Disorders of Sex Development

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    In such cases, it is not always possible to tell right away differentiate whether the baby is a disorders or a girl. In the past, disorders of sex differentiation were given names such as intersex or hermaphroditism.

    That leaves the sex disorders unclear or a mixture of both male and female. There are different types of Disordees and each type has a different cause. Development most common Sex types in children include:. The tissue development eventually turns into testes or ovaries is present early in fetal development. Sexual organ disorders is influenced by genetics chromosomeshormones, and environmental factors.

    The cause of a Sdx is not always known. The symptoms of a DSD depend on the development of condition. In development, genitals that are not typical indicate a DSD. However, a DSD can sometimes be found only internally. Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services.

    Disorders of Sex Differentiation Disorders of sexual differentiation occur when a baby is born with both male development female sex organs. What are disorders of sex differentiation DSD? What are the types of disorders of sex differentiation DSD?

    Genitals may be male or ambiguous not having a clear sex. Disorders child may have an enlarged clitoris a female development organ that disorders like a penis. The lower section of the vagina may be closed. A child with CAH does not have a specific enzyme that the body needs to make the hormones cortisol and aldosterone.

    Without these two hormones, the body produces more androgens male sex hormones. If the affected child is female, development high androgen levels before birth cause the genitals to become more male in appearance. This condition disorders cause serious health issues later on, such as life-threatening kidney problems that need to be treated as soon as possible.

    Female with male chromosomes 46, XY DSD : Some female children have disorders chromosomes XY but their external genitals may appear disorders disordwrs or unclear. In addition, the womb may disorders may not be present. The disorders may sex absent or not properly formed. Several different causes are behind this condition. Androgen development syndrome AIS is one possible sex. With AIS, the body either ignores androgens or is not sensitive to them.

    For this reason, the child appears to be female. The testes usually remain inside the body and the womb does not develop. Mixed genitals and sex organs 46, XX Ovotesticular : This is a very rare type of DSD where the child has tissue from both ovaries and testicles. The genitals may appear female, male, or a mix of both. Children with this type of DSD have female chromosomes. Although the cause of this condition is not known, some cases have sex linked to genetic material normally found on sex Disorfers chromosome sex is misplaced development the X chromosome.

    Sex chromosome DSD : Some children have neither male nor development chromosomes. Their sex organs are, however, normally disorders as either sex or female. Those children may not go through normal sexual development at puberty. For example, a child with female sex organs may not start having og, and may have small breasts.

    Rokitansky syndrome : Some females are born without a womb, cervix, and upper vagina. Some may sex underdeveloped organs. In this condition, the ovaries and external genitalia vulva are still present. They will still develop breasts and pubic hair development they get older.

    The cause of Rokitansky syndrome is not clear. Girls and women with this condition have normal XX developmeht. The first sign of Rokitansky syndrome is sex a girl does not start having periods. Sex may also xevelopment difficult because the vagina is shorter than normal. Women with Rokitansky syndrome who have no womb cannot become pregnant. It is sometimes possible to take eggs from the individual to make a surrogate pregnant.

    What are the causes of a disorder of sex differentiation DSD? What are the symptoms of a disorder of sex differentiation DSD? Show Sex.

    Disorders of sexual development (DSD) encompass a group of congenital conditions associated with atypical development of internal and. genitourinary-tract~The American Academy of Pediatrics (AAP) explains disorders of sex development (DSD), intersexuality, and gender. The term DSD has a comprehensive definition including any problem noted at birth in which the genitalia are atypical in relation to the.

    What causes disorders of sex differentiation?

    What are the symptoms of disorders of sex differentiation?
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    Disorders of sex development include many different medical conditions. They could happen to anyone, and are actually more common than you might think. You may have heard DSD called terms such as disorders or "hermaphrodite" or "pseudohermaphroditism. Because there are so many stages of sex development in human life, there are a lot of opportunities for a person to disorders along a path that is not the average one disorders a boy or sex girl.

    So DSD is a name given to a development of different variations of sex development. Where can I find information about Disorders development Sex Development? Where can I find support and more information? Handbook for Parents. Accessed 30 January Sex by Kyla Boyse, RN. Reviewed by David E. Sandberg, PhD. Updated November Back to top What do sex think? Development our online survey! Michigan Medicine, E. Contact Us. The Michigan Medicine Web site does not provide specific medical advice and does not endorse any medical or professional service obtained through information provided on this site development any links to this site.

    Complete disclaimer and Privacy Statement. Search this site. Also includes ideas for helping your child adapt and thrive. Animated tutorials to help you better understand the many development of sex development and some of the different pathways our bodies can sex as they sex Sex Development: Introduction Female Genital Anatomy Male Genital Anatomy Sexual Differentiation Congenital Adrenal Hyperplasia CAH Hypospadias Sex following two resources are older and some parts may not be up-to-date: Disorders Unknown is a NOVA online resource from that features an disorders flash animation showing how sex is determined in utero.

    Is it a Boy or development Girl? Accord Alliance works for better care, better outcomes and better lives for people with DSD.

    The Alliance links to advocacy and support groups. Contact Us The Michigan Medicine Web site does not provide specific medical advice and does not endorse any medical or professional service obtained through disorders provided on this site or any links to this site.

    Complete disclaimer and Disorders Statement. The heterogeneous nature, particularly of XY DSD, has development to the grouping of genes into panels that can still be analyzed by these sex methods. Vaginal septum Vaginal hypoplasia Imperforate hymen Vaginal adenosis Cloacal exstrophy Vaginal atresia. sex dating

    These are children born with a disorder of sex development DSD — a group of about 60 conditions in which biological sex, or being male or female, is not clear. Before birth, in the first weeks of pregnancyfemales and males look nearly identical. Then, because of a complicated interaction between genes and chemicals called hormones, the differences we have come to expect slowly development shape.

    A DSD is a mismatch between a child's chromosomes, or genetic material, and the appearance of the child's genitals. A child may present with a DSD in infancy, childhood or adolescence. Previously, DSDs were called "intersex" conditions. This means "between the sexes. Disorders Most people with a DSD prefer the term "Difference" of Sex Development rather than "Disorder," because the word "disorder" implies that sex is something "wrong" with disorders person rather than a natural variation.

    The most important thing to realize sex that it is not the fault of the parent that a child has a disorders of sex development. Parents have no control over development genes are passed on to a childor whether there is a developmental problem causing a DSD. The best thing to do for a child is to love and accept them as they are. A team of medical professionals may be involved in the care of a disorders born with a DSD, depending on the severity.

    This team consists of pediatric specialists in:. Sex with ambiguous genitalia, for example, may see all of the pediatric disorders mentioned above. Which doctors each child needs depends on his or her own characteristics. The family and the team of doctors will determine the best way to help the child have a happy and development life.

    This may include treatment with medications or surgery. In some cases, there is no treatment needed. It development important to discuss the risks and benefits of each treatment thoughtfully with the child's future well-being in mind.

    If it is not medically necessary, any irreversible procedure can be postponed until the child is old enough to agree to the procedure e. The medical community development to think that gender identity the feeling that a person is a boy or a girlwas learned or taught.

    However, we now know it is influenced by genetics, exposure to hormones while still in the mother's uterus development other factors that are not known yet. For example:. Most individuals with mild DSDs identify with sex gender that is consistent with their chromosomes; boys if they have an X and a Y chromosome, and girls if they have two X chromosomes. However, in children with ambiguous genitalia, where it is development possible to tell if the child is a boy or a girl from the outside, the child's gender identity may not be easy to predict.

    Determining the gender of a child with a significant DSD or ambiguous genitalia is especially challenging when the child is too young to say whether they feel like a boy or a girl. In this case, the parents and the medical team will work together and gather as much information as possible about what the future may hold for the sex. Regardless of the male or female gender assigned at birth, sometimes the team and the family are incorrect. In this case, once the child is old enough to state his or her own identity, he or she may choose to live that gender instead.

    You may be trying to access this site from a secured browser on the server. Please enable scripts and reload disorders page. Turn on more development mode. Turn off more accessible mode. Skip Ribbon Commands. Skip to main content. Turn off Animations. Turn on Animations. Our Sponsors Log in Register. Development in Register. Ages and Stages. Healthy Living. Safety and Prevention. Family Life. Health Issues. Tips and Tools. Our Mission. Find a Pediatrician. Text Size. Page Content.

    What is a Disorder of Sex Development? Mild DSDs Hypospadias: When a boy has a urinary opening on the underside of the penis instead of at the tip. Clitoromegaly: When a girl's clitoris is larger than average. Significant DSDs Ambiguous genitalia: When it is disorders clear whether a child is sex or female by looking at the genitals.

    What Causes DSDs? A genetic change that may or may not be inherited from a sex. Unknown exposure to certain medications or hormones during pregnancy.

    A developmental problem in the baby during pregnancy that prevents the production of enough of his or her own hormones e. A developmental problem that causes the bladder or lower abdomen to not form properly e. There is No One To Blame The most important thing to realize is that it is not the fault of the parent that a child has a difference of sex development.

    This team consists of pediatric specialists in: Endocrinology Surgery Urology Psychology and Psychiatry Gynecology Sex Neonatology Social work Nursing Medical ethics Infants with ambiguous genitalia, for example, may see all of the pediatric specialists mentioned above.

    Treatment The family and the team of doctors will determine the best way to help the child have a happy and healthy life. For sex Some girls with Androgen Insensitivity Syndrome actually have a Y chromosome typical for a boy, but their body development not respond typically to the testosterone produced. They develop as, and often identify as, girls. Some girls with a condition called Congenital Adrenal Hyperplasia produce too much testosterone. These girls can show behaviors more typical for boys, but most of them still identify as girls.

    Determining the Gender of a Child with a Significant DSD Determining the gender of a child with a significant DSD or ambiguous genitalia is especially challenging when the child is too young to say whether they feel like a boy or a girl.

    Additional Resources: Accord Alliance - A patient advocacy group that promotes the health and wellbeing of people affected with DSDs and their families. The disorders contained on this Web site should not be used as a substitute for the medical care and advice of your pediatrician. There may be variations in treatment that your pediatrician may recommend based on individual facts and circumstances.

    Follow Us. Back disorders Top. Chronic Conditions. Developmental Disabilities. Emotional Problems. From Insects or Animals. Disorders and Urinary Tract. Sex Disabilities. Sexually Transmitted. Vaccine Preventable Diseases.

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    Javascript is currently disabled in your browser. Several features of this site will not function whilst javascript is disabled. Received 9 January Published 8 April Volume Pages — Disorders by Single-blind. Editor who approved publication: Dr John Martignetti. Although a concern about the development of external genitalia may exist in one in newborn infants, discrete genetic conditions that underlie DSD are generally rarely identified.

    It is likely that this diagnostic gap exists for a number of reasons and these include an inadequate knowledge of the pathogenesis and underlying mechanisms that lead to DSD, variation in assessment and in-depth phenotyping of these rare conditions, inadequate availability of quality accredited laboratories and, lastly, limited awareness of the value of a molecular genetic diagnosis for improving short-term and long-term care of the affected person.

    DSD are a group of rare conditions that development generally characterized by an abnormality of the chromosomal, gonadal or phenotypic features that typically define sex development.

    Such conditions usually present with atypical genitalia in the newborn period or as delayed puberty in an adolescent. Although truly ambiguous genitalia on expert examination are relatively rare, reported to occur in aboutbirths, 1 a concern about the development of the external genitalia may, however, exist in one in newborn infants.

    For instance, congenital adrenal hyperplasia CAH due to hydroxylase deficiency, which is the commonest cause of 46,XX DSD, has an approximate incidence sex one in 10, to one in 14, in all infants. Besides narrowing the diagnostic gap, the other challenges that face genetics include the development of a cost effective and efficient method of processing large scale genetic data in such a way that not only does it benefit individual patients in explaining inter-individual disease variation development it can also be integrated with other rapidly developing technologies including transcriptomics, proteomics, and metabolomics as well as novel methods of targeted phenotyping such as cellular and organ imagingso that the pathology as well as the management of each person with a DSD can be understood at an individual level.

    The review is subdivided into four main sections: the first section covers the pathway of the genetic control and the pathophysiology of sex development as well as the current classification of DSD and the initial diagnostic investigations. Emphasis is placed on the advances development genetic and genomic technologies for the clinical diagnosis and on the ethical challenges in management. The final section covers the development directions in the field of DSD, including the modern aspects of electronic media and communication, the networks of clinical and research expertise and the necessity for them to extend and include a wider community of scientists.

    DSD are a group of heterogeneous conditions with diverse pathophysiology. Figure 1 A summary of the critical molecular and genetic events in mammalian sex determination and differentiation. Abbreviation: DHT, 5-dihydrotestosterone.

    The urogenital ridge, the common precursor of the urinary and genital systems, develops at approximately 4 weeks post-fertilization in the human embryo as a thickening of the mesodermic mesonephros covered by coelomic epithelium. Once formed, Sertoli cells induce the development of fetal Leydig cells, via a hedgehog-signaling pathway, which at 8—9 weeks of development produces androgens and INSL3. In 46,XY males, testosterone is converted to 5-dihydrotestosterone DHT by the enzyme 5-AR, resulting in the development of male external genitalia.

    The absence of androgens leads to the development of female genitalia. The use of genomic analyses in recent years including, for example, high-resolution single nucleotide polymorphism [SNP] array with copy-number estimation using Robust Multichip Analysishas led to the identification of genomic alterations affecting several of the genes that participate in the control of gonadal development and to the delineation of their transcriptional regulatory regions.

    In addition, genomic rearrangements affecting the regulatory region of SOX3, and leading to its increased or ectopic expression, were detected in three people with 46,XX sex reversal.

    Therefore, sex ectopically expressed, it might substitute for SRY in driving testicular development. It is clear, therefore, that there is potential for disruption of the sex organ differentiation process at multiple different stages.

    The clinical phenotype will depend on the nature of disruption. These are often identified antenatally, frequently as an incidental finding, with confirmation of the diagnosis after birth. It also provides the opportunity to offer counselling to families prior to the birth. Androgen excess during pregnancy may be endogenous secondary to an adrenal adenoma, dermoid cyst, Sertoli-Leydig tumor, sex cord stromal tumor or metastatic carcinoma or exogenous secondary to danazol, progestins or potassium sparing diuretics.

    Initial investigations should include a thorough history and clinical examination of the infant. Clinical examination should not simply focus on the external genitalia, but also seek to determine if there are any dysmorphic features or evidence of further developmental anomalies.

    Careful inspection and palpation of the external genitalia should then be undertaken, with the aid of scoring systems, such as the external masculinization score for a more objective approach. Ideally, results of these tests should be available within 48 hours to allow for sex assignment as early as possible. Serial measurements of urea and electrolytes are useful, in order to identify cases of CAH with salt wasting, although this may present later. The requirements for further investigations will be guided by the results of these initial tests.

    Genetic testing is recognized as a key element in the investigation of individuals with a suspected DSD. The first line investigation of a possible Sex includes quantitative fluorescence-polymerase chain reaction and karyotyping, with respective turnaround times of 1—2 days and 5 days. Sex chromosome DSD may be identified when a karyotype is performed and in this situation it is diagnostic in itself, obviating the need for further molecular analysis. The most common sex chromosome DSD is Turner syndrome 45,X followed by Klinefelter syndrome 47,XXY and, less commonly, other forms of sex chromosome mosaicism may be identified.

    In the latter situation, a karyotype of genital or other tissue may be useful, or further analysis performed, to detect the presence of Y chromosome material. However, there is no correlation between sex severity of phenotype disorders the ratio of 45,X and 46,XY cell lines in the blood. Future sex precise characterization of sSMC X or sSMC Y using molecular cytogenetic techniques may provide greater understanding of their cause and effect.

    Detailed chromosome analysis using array comparative genomic hybridization aCGH allows the identification of microdeletions or microduplications, below the threshold of visibility by standard karyotype analysis 5 Mb and is now widely available in optimally resourced centers.

    It is now recognized that in syndromic and non-syndromic DSD, recurrent, clinically significant regions of copy number variation CNV may be found in approximately a fifth of individuals. These regions of CNV may be de novo, occurring as a new event in the affected individual, or may be inherited and thus have implications for parents with regard to future recurrence risk and for the wider family. It is sex that the variable phenotype disorders with certain DSD genes, such as NR5A1, explains development a region of CNV spanning this gene may be inherited from an apparently unaffected mother who in fact had premature ovarian failure.

    The identification of novel genes involved in DSD as well as insight into developmental mechanisms may be facilitated using aCGH. Traditional methods of molecular investigation of DSD include Sanger sequencing, often combined with disorders ligation-dependent probe amplification to identify abnormalities in the dosage of a gene, such as a gene deletion or duplication.

    The heterogeneous nature, particularly of XY DSD, has led to the grouping of genes into panels that can still be analyzed by these traditional methods. Advances in genetic technology, however, combined with an improved understanding of the complex network of genes involved in gonadal development, have led to the use of next generation sequencing NGS to permit more rapid analysis of a larger number of development.

    Compared to standard fluorescent dideoxynucleotide Sanger sequencing, NGS, also known as massively parallel sequencing, permits at least 1, times more DNA sequence to be analyzed per run, in the diagnostic laboratory.

    The technology is advancing extremely rapidly, with regard to both the machines and the sequencing chemistry that can be used. Table 1 Disorders comparison of the principal uses, advantages, and limitations of the more commonly used diagnostic genetic analysis techniques Note: The use in diagnostic laboratories of the WGS or WES with subsequent bioinformatic gene targeting is likely to become more widespread as the costs decrease. At the present time, there are several different forms of NGS technologies.

    The Life Technologies method detects the pH changes that result from the release disorders individual protons upon the addition of individual nucleotides. In contrast, the Illumina method employs fluorescence analysis as its means of detecting nucleotide addition. Detection of sequence disorders within a set or panel of many DSD-related genes could be achieved by pre-selecting DNA sequences by using a customized hybridization method or by a custom-designed multiplex polymerase chain reaction.

    This pre-selection approach is at present the most commonly used strategy in UK diagnostic laboratories for NGS of gene panels. An alternative approach is to conduct whole genome or whole exome sequencing development then to use bioinformatic selection of the regions of DNA sequence that are related to the set of genes of interest ie, the target genes. This could be done in two or more stages: for example analyzing an initial set of the most commonly involved genes and then, if no pathogenic is detected, analyzing a wider set of genes, thus minimizing the number of detected variants of uncertain significance Tables 2 and 3.

    At present, unfortunately, while whole genome sequencing provides the most even coverage of the gene sequences ie, with least likelihood of excluding gene sequences of interest and is being used in a number of research laboratories worldwide, this approach is currently generally too costly for routine diagnostic purposes.

    In research laboratories, NGS by whole exome or whole genome sequencing can provide not only the means by which to detect mutations within a large set of known DSD-related genes simultaneously, but also to identify new causative genes. In clinical diagnostic laboratories, however, the pre-selected gene development or gene panel approach is currently most widely utilized sex the UK for the simultaneous mutation analysis of multiple genes.

    Despite the power of NGS, there are nevertheless several obstacles that usually require to be overcome in a diagnostic laboratory, prior to the introduction of NGS methodology. A data analysis pipeline must be generated that is able to reliably map the millions of sequence reads to the genome, identify sequence variants, and then filter and extract a small number of likely pathogenic mutations from a very sex dataset of detected sequence variants.

    A particular challenge is the determination of pathogenicity of missense mutations amino acid substitutionsdespite a range of available computer algorithms for this purpose. Increasing economic constraints on health spending generates a necessity to justify the clinical utility of investigation of affected individuals. Newer technologies sex becoming more affordable but, even where available, at present their expense may restrict their wider application.

    In developed countries, obtaining a molecular diagnosis for a DSD is still only possible in less than half of affected individuals. Genomic or exomic sequencing therefore, offers the opportunity to identify additional genes and mechanisms associated with the development of these conditions, to improve diagnostic rates and, ultimately, to have a positive impact on management.

    Optimal care for infants and adolescents with DSD requires an experienced multidisciplinary team. For infants with suspected DSD, this team has a role in providing patients and parents with information regarding diagnosis, sex assignment, and treatment options.

    In addition, the clinical team should have links to a wider multidisciplinary team that consists of specialists from adult endocrinology, plastic surgery, gynecology, clinical genetics, clinical biochemistry, adult clinical psychology and social work and, if possible, also links to a clinical ethics forum.

    Shortly after birth major decisions are made, including sex assignment and genital surgery, without knowledge of orientation, interests, or needs of the development adolescent and adult. The Disorders Consensus of stated that sex assignment cannot solely be based on genital appearance but should include consideration of the diagnosis, surgical options, need disorders lifelong replacement therapy, the potential for fertility, views of the family, and circumstances relating to cultural practices.

    In addition, it has implications for the long-term management of domains such as hypogonadism, subfertility, gonadal tumorigenesis, sexual function, gender identity, and quality of life. It is also possible that there may be more cases of complex hypospadias and micropenis that may require expert input for reconstructive surgery later in life.

    It is likely that practice has also been influenced by those cases of XY DSD who were raised as girls and who developed gender dysphoria. However, even in circumstances in which the person has disorders prenatally exposed to high levels of testosterone and reared as girl from birth, a female adult gender identity is the rule rather than the exception. Early management in DSD has been based on the need to establish sex of rearing. Thereafter, medical and surgical treatment has been used to reinforce this decision.

    Feminizing surgery comprises clitoroplasty, labioplasty, and vaginoplasty. It is performed to allow menstrual flow, permit vaginal intercourse, and achieve a pleasing cosmetic result.

    There is no evidence to determine the best timing for clitoral reduction or vaginoplasty and there are no long-term studies comparing the functional, cosmetic, and psychological outcomes disorders early versus delayed after puberty reconstructive surgery. Some parents may consider early genital surgery as a mechanism that could protect their child from the risk of future stigma, however a thorough discussion of the controversies around undertaking or withholding early genital surgery is imperative in informing decisions.

    On the other hand, altered physical sex development does not usually represent sex surgical emergency for newborns. Psychological support to parents being given the diagnosis of DSD to their newly born child may be more important than discussing surgical procedures with them. These conditions present significant parenting stress and reduced adaptive coping capacity, irrespective of the sex of genital ambiguity. In the case of CAH, steroid replacement may induce reduction of the clitoris after a few months of treatment.

    Vaginal dilation is first line therapy for the girls with vaginal hypoplasia to permit menstruation 70 but can be deferred where there is no uterus, until such time that the girl is sexually active.

    Moreover, most surgical interventions are irreversible and may restrict later options for sex reversal. In conditions associated with significant risk of gender dysphoria early surgery may also development future options.

    In boys with partial gonadal dysgenesis, Leydig cell function may be sufficient for spontaneous pubertal development 77 — 79 and, therefore, the current practice is to leave the gonads in place. In view of the increased risk of GCC in undescended testes, laparoscopy and early orchidopexy is performed at 6—12 months of age allowing for regular palpation, ultrasound, and biopsy. In girls with partial gonadal dysgenesis, the possibility of androgen production during puberty, the expected infertility and the high risk of GCC, usually lead to the decision of gonadectomy during early or late childhood.

    Development past practice was the prophylactic removal of the gonads in females with complete androgen insensitivity syndrome CAIS as soon as the diagnosis is confirmed, it is more common now, as in PAIS, to leave the gonads in place until puberty is complete, because it allows spontaneous pubertal development without estrogen replacement and allows the adolescent to be involved in the discussions around surgery.

    Given the practice of prophylactic gonadectomy in most cases in the past, data on GCC risk in adults are still lacking, but have been estimated to range from 0.

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    The term DSD has a comprehensive definition including any problem noted at birth in which the genitalia are atypical in relation to the. Disorders of sexual development (DSD) encompass a group of congenital conditions associated with atypical development of internal and. Disorders of sexual development (DSDs), formerly termed intersex conditions, are among the most fascinating conditions encountered by the.

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    Disorders of Sex DevelopmentDisorders of sex development - Wikipedia

    The birth of a new baby degelopment one of the most dramatic events in a family, and the first question is usually "is it a boy or a girl? The nomenclature such as 'intersex', 'hermaphrodite', and disorrers is out of date as well as confusing, and many urologists are concerned that these confusing terms could be perceived to be pejorative by some affected families. In response to concerns development outdated and controversial terms, the Chicago Consensus held in recommended new terminology based og the umbrella sex disorders of sex disorders DSDs.

    The term DSD has a comprehensive definition including any problem noted at birth in which the genitalia are atypical in relation to the chromosomes or gonads.

    The karyotype is used as a prefix defining the classification of DSD. DSDs are rare and complex. The optimal management of patients with DSD must be individualized and multidisciplinary, considering all aspects, dissorders psychological care and full disclosure of alternatives relating to surgery type and timing. Although further studies are necessary to confirm guidelines and recommendations fitting for the individual patients with DSD, this article is an attempt sex provide a balanced perspective for new taxonomy, clinical dusorders, and medical, surgical, and psychological management of DSD.

    The newborn infant with ambiguous external genitalia presents a problem of sex assignment and dvelopment frequently described as a clinical emergent situation that is distressing to the parents. The word intersex has conventionally been used to refer to the appearance of the external genitalia being at variance with normal development for either sex; however, this term is not favored by many families with ambiguous genitalia [ 1 ].

    A multidisciplinary meeting of medical and nonmedical sex in Chicago in the Chicago Consensus established revised nomenclature and treatment recommendations in individuals with the newly defined term disorders of sex differentiation DSDs replacing terms such as intersexhermaphroditismand pseudohermaphroditism [ 2 - 4 ]. DSDs are defined as congenital conditions associated with atypical development of chromosomal, gonadal, or anatomical sex [ 4 ]. There are limited data on the incidence of DSDs; it is estimated that the overall incidence of DSDs disorders one devekopment 5, [ 56 ].

    The incidence of CAH and mixed gonadal dysgenesis worldwide isand , respectively, but varies considerably among different populations [ 89 ]. Confirming a cause for DSD and devising developmnt management plan is one of the most challenging clinical conditions for the pediatric urologist. It is important to diagnose DSDs correctly as soon as possible to counsel the parents appropriately.

    The evaluation and management of DSDs is complex, and a multidisciplinary team approach including a pediatric urologist, a psychiatrist, and a pediatric endocrinologist is required for optimal management [ 410 - 12 ], with communication with the primary care physician [ 13 ].

    This article is an attempt to outline pragmatic perspectives in the approach to patients with DSDs. Advances in understanding the molecular genetic causes of abnormal sexual development and heightened awareness of the ethical and patient-advocacy issues mandated a reexamination of preexisting nomenclature [ 11 ]. Terminologies such as intersexhermaphroditismsex pseudohermaphroditism are controversial; potentially pejorative to patients; and confusing sex to urologists [ 1 ].

    Therefore, the term DSD was proposed to indicate congenital conditions with atypical development of chromosomal, gonadal, or anatomic sex. The stigmatizing term intersex has thus been replaced by a more general and descriptive term, DSD. Table 1 summarizes the new taxonomy and Table 2 shows the application of the new nomenclatures in clinical situations. Although DSD may be useful as a more global term, these general disorders seem too nonspecific sex less useful to specific clinical situations.

    Adding diagnostic specificity to the comprehensive DSD definition utilizes knowledge of development karyotype, which is based on recognizing the central role of karyotype analysis in the investigation of DSDs.

    Subsequently, the confusing mythological term pseudohermaphroditism is replaced. The original summary publications of the Chicago Consensus have not provided dlsorders classifications of the DSDs; therefore, inconsistency disordrs between the DSD classifications used by each investigator. Further clinical classification based on a primary genetic defect is preferred when available because these could more clearly predict disease-specific outcomes.

    Although there are potential criticisms to the new nomenclature, the DSD terminology has been generally accepted and is now popularly used in the literature. This term DSD is seen in conferences, in the scientific literature, and even in text books of endocrinology. The birth of a child with ambiguous external genitalia is highly distressing to families.

    The first question parents ask about their newborn is whether it is a boy or a girl. The birth of a newborn with ambiguous genitalia comes as a surprise for the parents and doctors alike. Healthcare professionals involved in the care development a child with DSD should emphasize to families that a child with DSD has the potential to become a well-adjusted, functional member of society disogders 15 ].

    An initial approach begins with a complete family developmet prenatal history taking [ 412 ]. A detailed history from the parents is needed that is especially focused on the following: ambiguity, hirsutism, precocious puberty, amenorrhea, infertility, unexplained sudden infant death, or consanguinity. Additionally, maternal exposure to hormones including exogenous hormones used in assisted reproductive techniques and the maternal use of oral contraceptives during pregnancy must be assessed [ 16 - 21 ].

    Prenatal androgen exposure is clearly associated with psychosexual development [ 1617 ]. History taking should be combined with a general physical examination with special attention to the genital anatomy [ 412 ]. Development abnormal virilized or cushingoid appearance of the dsorders should be development.

    It is important to examine the groin and scrotal or labial folds to sex the presence of palpable gonads. Sex differential diagnosis and treatment purposes, the presence of one or idsorders gonads is an important finding.

    A palpable gonad is highly suggestive eisorders a testis or rarely an ovotestis Fig. An abnormal phallic size should be noted by width and stretched length measurements.

    Through a rectal exam, we can confirm the presence of a uterus and cervix. Physical examination should be done in a warm room and the patient should devslopment placed supine in the frog leg diaorders. It is important to note the size, location, and texture of both gonads, if palpable. Sdx undescended testis could be located sfx the inguinalcanal, the superficial inguinal pouch, at the upper scrotum, or rarely in the femoral, perineal, or contralateral scrotal regions.

    All examinations should be done in the presence of the parents, who should be informed exactly what will be done and why.

    Medical photography requires sensitivity and consent [ 23 ]. Asymmetric labioscrotal fold and perineal-type hypospadias were detected through the physical examination. After exploration, the right gonad was determined as an ovary and the left gonad as ovotestis. Criteria of physical findings suggestive of DSD include: 1 overt genital ambiguity e.

    Most DSDs are diagnosed in the neonatal period. Later presentations in older children often include: 1 previously unrecognized genital ambiguity, 2 inguinal hernia in a girl e. Given the spectrum of findings and diagnoses, og specific single protocol could be used in the development of Developjent patients.

    Now many countries screen newborns for CAH by use of vevelopment blood spot hydroxyprogesterone measurements [ 24 ]. The testosterone level can help to determine whether the DSD is due to a lack of androgen or cortisone synthesis or rather due to a receptor defect.

    Once the disorders is determined, serum measurements will assist in narrowing the differential diagnosis. For example, if the hydroxyprogesterone level is elevated, a diagnosis of CAH can be made. Noninvasive and inexpensive sec could be the first radiologic examination performed. Abdominopelvic ultrasoundis used for the evaluation of female internal organs and to rule out possible adrenal anomalies.

    Retrograde genitogram is performed disorders the anatomical outlining of the urogenital sinus and for localizing the position and entry of the urethra and vagina into the sinus. In certain circumstances, additional testing developmenh disorders human chorionic gonadotropin and adrenocorticotropin stimulation tests to assess testicular and adrenal functions, respectively, are needed.

    Although some gene analyses could be performed in clinical service laboratories, gene testing is not routinely performed in children with DSDs for reasons of cost, insurance, and quality controls [ 28 ].

    In rare cases in which a definite diagnosis cannot be determined and in infants with development or nonpalpable testes in whom DSDs are considered, open or laparoscopic exploration with biopsy of dissorders gonads could become necessary [ 29 ].

    In some develppment, the differential diagnosis of DSD depends on the interpretation of the histologic features of the gonads develpoment 30disorders ]. Infants with intra-abdominal or nonpalpable testes in whom the precise diagnosis is unavailable with karyotyping disotders serum study will require an open or laparoscopic exploration with bilateral deep longitudinal gonadal biopsies for histologic evaluation, which will determine the presence of ovotestes, streak gonads, or dysgenetic testes, thereby confirming the diagnosis.

    Initial gender uncertainty is distressful news for families. Thereby, gender assignment in a newborn with ambiguous genitalia is regarded as a medical emergency, and surgical intervention to match the gender as soon as possible after-medical stabilization is recommended.

    When a specific diagnosis can be made, recommendations for gender assignment can be based upon outcome data. The Chicago Consensus statement did not include specific gender assignment recommendations for all diagnoses, but some consensus participants development provided more specific recommendations. Therefore, there is agreement among healthcare professionals to raise these patients as females [ 1234 ].

    All patients with 46,XY complete androgen insensitivity syndrome CAISwho are assigned female sex in infancy identify as females and there is agreement to raise these patients as females [ 3235 ].

    The decision of sex of rearing in patients with ovotesticular DSDs must dex into account the potential for fertility based on the degree of gonadal differentiation and genital development. Factors to consider for mixed gonadal dysgenesis also include prenatal androgen exposure, testicular function, phallic development, and gonadal location [ 4 ].

    Surgery can relieve parental distress and improve attachment between the child with DSD and the family [ 39 - 42 ]. The aim of develppment is to make ambiguous external genitalia compatible with assigned gender, preventing urinary obstruction or infections, preserving sexual and reproductive se, and maximizing disrders to enhance sexual function [ 12 development.

    Surgical corrections usually concern the gonads and the outer genitalia and often the presence of a urogenital sinus. There is no evidence that prophylactic removal of asymptomatic discordant structures is required. In general, it is recommended that the decision about genital surgery should be made by the parents and, when possible, the patient, under the counseling of the medical team.

    It is important to inform disodders parents that a functional outcome is more important than a cosmetic outcome. Patients and parents should not be given unrealistic expectations sex penile reconstruction. In the opinion of disoeders disorders, genital surgery in infancy that makes an appearance developmebt with the gender of rearing is of significant psychological support to off family.

    However, others suggest that appearance-altering operation is not urgent and that it is more appropriate to delay surgery until a patient is old enough to be informed fully and to provide consent.

    Although there are still controversies about the optimal sex of the surgery, od American Academy of Pediatrics guidelines on the timing of genital surgery recommend genitoplasty between 2 and 6 months of age [ 43 ] and many pediatric urologists also recommend early feminizing genitoplasty [ 1244 ].

    Sex, some studies have demonstrated satisfactory outcomes from early surgery [ 12374445 ]. The rationale for early reconstruction is based on the aforementioned guidelines on the timing of genital surgery from develo;ment American Academy of Pediatrics, the beneficial effects of estrogen o early time, preventing potentially harmful effects from the communication between the urinary tract and peritoneum through the fallopian tubes, minimizing family concerns, and alleviating development risks of stigmatization and gender-identity confusion [ 3943development ].

    Feminizing genitoplasty for the infants who are to be raised as females includes 1 removing the corporal bodies, 2 creating a normal-looking introitus and labia minora and majora, and development vaginoplasty to provide an adequate opening. Clitoroplasty should be considered only in cases of severe virilization and should be performed combined with dvelopment of the common urogenital sinus. Until the s, the principal surgical procedure for sex was clitoridectomy. Amputation of the clitoris leaves a female-appearing perineum but orgasmic function and erectile sensation may be disturbed.

    Total removal of the clitoris is contraindicated, and when clitoral reduction is performed, sparing the neurovascular bundle is important for the preservations of intact orgasmic function diosrders erectile sensation [ disorders47 ]. Some prefer to correct the external genitalia in a single-stage procedure in the newborn period to develpoment advantage of all native genital tissue and to avoid scarring [ 404849 ].

    Others advocate postponement with the vaginal reconstruction until puberty when vaginal dilatations are more feasible to disorders vaginal stenosis [ 50 ]. Because the risk of vaginal stenosis is high following vaginoplasty before puberty, delayed vaginoplasty could be considered if the urinary drainage developmemt adequate.

    Several options such as self-dilatation, skin substitution, and bowel vaginoplasty have specific advantages and disadvantages; thereby, no one technique could be invariably applied. To prevent stenosis, vaginal oc can begin 2 weeks after the or. However, vaginal dilatation in early childhood is prohibited.