Intersex Disorders Research Articles

Paediatric urologic pathologies at the national teaching hospital in Cotonou: A etiological and therapeutic aspects

Urological pathologies of children are dominated by congenital malformations of the kidneys and urinary tract. Their management is often surgical. The objective of this survey was to study etiological and therapeutic aspects of urological presentations in children. Data for aetiology, treatment, and results in children hospitalized at the Paediatric Surgery service of National Teaching Hospital (CNHU) in Cotonou were retrospectively analyzed from January 1999 to December 2008. A total of 214 patients with complete data were evaluated. Urological pathologies represented 4.8% of the hospitalizations in paediatric surgery, with an incidence of 21 cases per year. The mean age was 4.9 ± 3.2 years (age 1 week to 14 years). The male to female ratio was 14:14. Cryptorchidism, hydrocele, nephroblastoma, the posterior urethral valves, ureteropelvic junction obstructions, post-circumcision haemorrhage and hypospadias were the most frequent pathologies. Congenital urological malformations represented 81.3%, followed neoplastic pathologies (7.9%), traumatic pathologies (6.1%) and others (4.7%). The disorders of male genitalia were more frequent and constituted 68.2% of the cases. The anomalies of the urinary tract were 30.8% and intersex disorders were 0.9%. The average age of the children urological pathologies at the time of consultation was 8.85 ± 4.6 years. The treatment was often surgical with a mortality of 2.8%.

Paediatric ¶Urologic Pathologies In Two Hospitals Of Reference In Cotonou (BENIN): ¶ ¦Etiologic¦ And Therapeutic Aspects ¶

Background. Urologic pathologies of children are dominated by congenital malformations of the kidneys and urinary tract. ¦¶Their management is often surgical.¶ Objective: The general objective of this survey was to study etiological ¦¦ and therapeutic aspects of urologic pathologies in children.Patients and methods: Data for aetiology, treatment and results in children hospitalized at the Paediatric Surgery services of two National Teaching Hospitals ¦in ¦Cotonou were retrospectively analyzed from January 2002 to December 2011.¶ ¶Results. A total of 257 patients with complete data were evaluated. Urologic pathologies represented 4.8% of the hospitalizations in paediatric surgery, with an incidence of 26 cases per year. ¶The mean age was 4.9 ± 3.2 years (age between one 1 week and 14 years). ¶The sex-ratio was equal to 14.14. Cryptorchidism, ¶ ¦hydrocele¦, ¦nephroblastoma¦, the posterior ¦urethral valves¦, ureteropelvic junction obstructions¦ ¦, post-circumcision haemorrhage and ¦hypospadias¦ were the most frequent pathologies. Congenital urologic malformations ¶¦represented 81.3 %, followed neoplastic pathologies (7.9 %), traumatic pathologies (6.1 %) and others (4.7 %). The disorders of male genitalia were more frequent and constituted 69.3 % of the cases. ¶The anomalies of the urinary tract were 30.7 % and intersex disorders 1.2%. ¶ The mean consultation’s duration of children with urologic pathologies was 8.85± 4.6 weeks. ¶The treatment was often surgical with a mortality of 2.8 %. ¶

Problématique de la prise en charge des anomalies de la différenciation sexuelle dans le service d’urologie : CHU Point G

Abnormal sexual development causes unconformity between gender identity and gender role. In countries with low socio-economic level, the optimal management is difficult. The aim of this study was to evaluate the frequency, the genital anatomy appearance, the diagnostic and the surgical management of disorders of sex development (DSD) discovered during the adolescence. Between January 2005 and November 2006 (23 months), five patients with abnormal sexual development were identified in Point G Hospital. First-line testing included biology measurement and imaging. A surgical management was systematically offered. Median age was 19.5±11.8 years (6-31). All patients were initially assigned male. Sexual dimorphic with genital ambiguity was the first reason of consultation (three children to five). One patient had male breast development and one had pelvic pain. All clinical evaluation suggested genital ambiguity. The diagnostic was female pseudohermaphrodism in three cases, true hermaphrodism in one case and hypogonadism for one patient. A masculinizing genital surgery was performed in three cases. The other patients refused the treatment or were out of sight. Intersex disorders are relatively rare in Mali with a prevalence of 2.30‰ in our hospital. This study highlighted the lack of financial means and local resources for optimal clinical management of individuals with DSD.

Juvenile granulosa cell tumour of testis in a 9-week-old infant: a case report

Background Juvenile granulosa cell tumour (JGCT) is a rare benign neoplasm of testicular stroma that accounts for 1–5% of tumours arising in prepubertal testis. JGCT is uncommon in older children and adults. Occasional JGCT have occurred in undes-cended testis of infants with intersex disorders. Case report We present a case of 9-week-old infant with a mass in the right testis for which right orchidectomy was performed. Macroscopically, there was a 1 cm cystic lesion confined to the testis. Microscopically, the lesion was multicystic with a follicu-lar pattern. Follicles were lined by single to multiple layers of large cells with oval nuclei, inconspicuous nucleoli and abundant pale eosinophilic to clear cytoplasm. Follicles contained baso-philic secretions which were PAS and mucicarmine positive. There were frequent mitoses. The tumour showed positive staining for inhibin and S100. There was no staining for AFP and PLAP. Discussion JGCT usually presents in the first 6 months of life. Common differential diagnosis is yolk sac tumour, particularly when the tumour has a reticular pattern with brisk mitotic activity. AFP and alpha-inhibin immunostains are helpful in distinguishing these entities. JGCT follows a benign clinical course with no reports of metastasis. Some case series have advocated partial orchiectomy in management of these tumours.

Does Intratubular Germ Cell Neoplasia, Unclassified Type Exist in Prepubertal, Cryptorchid Testes?

Six of 276 prepubertal testicular specimens had atypical germ cells. Specimens from 3 intersex patients met the criteria for intratubular germ cell neoplasia, unclassified type (IGCNU). Of the remaining 3 specimens (2 patients), 1 from a Down syndrome patient had centrally positioned germ cells with mild nuclear enlargement and hyperchromasia and expressed fetal germ cell markers (Oct3/4, placental alkaline phosphatase, CD117); it was classified as "delayed germ cell maturation". The remaining 2 specimens (1 patient) were diagnosed as IGCNU but, in retrospect, the patient had an undiagnosed intersex disorder. We therefore did not find a bona fide case of IGCNU in prepubertal testes apart from an intersex disorder.

Etiological Classification and Clinical Assessment of Children and Adolescents with Disorders of Sex Development - Original Article

Objective: In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published a consensus statement on management of intersex disorders. The aim of our study was to determine the etiological distribution of disorders of sex development (DSD) according to the new DSD classification system and to evaluate the clinical features of DSDs in our patient cohort. Methods: We retrospectively reviewed the records of patients followed up during the past three years. The subjects were divided into three etiologic groups according to their karyotypes. The definite diagnosesin each subgroup were established by clinical and laboratory investigations including abdominopelvic imaging as well as basal and stimulated hormone measurements. Molecular genetic testing, except for CYP21A2 gene, could not be performed. Results: Out of a total of 95 patients, 26 had sex chromosome DSD, 45 had 46,XY DSD and 24 had 46,XX DSD. The most common causes of DSDs were Turner’s syndrome (TS), congenital adrenal hyperplasia (CAH) and androgen insensitivity syndrome (AIS). There was a wide variation in age of presentation ranging from 1 day to 17.5 years with a mean of 6.5±6.5 years. The most frequent complaints at presentation were ambiguous genitalia, isolated perineal hypospadias and short stature. Conclusion: The results of our study demonstrate that the new DSD classification system leads to a major change in the distribution of etiological diagnoses of DSDs, which is exemplified by the significant frequencies of TS and vanishing testes syndrome. This alteration expands the clinical spectrum and increases the mean age at diagnosis. However, the most common causes of ambiguous genitalia, such as CAH and AIS, remain unchanged. Further studies using molecular genetic analyses are needed to give a more precise distribution of etiologies of DSDs, especially in 46,XY patients.Conflict of interest:None declared.

Androgen insensitivity syndrome: Risk of malignancy and timing of surgery in a paediatric and adolescent population

Management of female phenotype XY disorders poses a series of problems for the treating clinician. Even after a series of investigations and imaging modalities, there are lingering doubts about the exact nature of the disease and the correct management option. Optimal timing and necessity for removal of their testes have been a debated issue by physicians. There is a generally accepted opinion among physicians that the risk of malignancy in androgen insensitivity syndrome (AIS) is considerably lower than with other intersex disorders and occurs at a later age. The highlight of this presentation is to reinforce the value of laparoscopic gonadectomy in management of AIS in correlation with data suggesting higher risk of malignancy. A retrospective review of 11 phenotypic females with XY karyotype was carried out. The patients were evaluated by a diagnostic protocol which included clinical, hormonal, sonographic and cytogenetic examinations. Patients/parents were counselled by the team concerning the different treatment modalities and contrary to the assigned gender, laparoscopy was offered to them. Uneventful bilateral gonadectomy was performed in all the patients and gonads submitted for histopathological examination. A total of 11 patients (mean age, 10.4 ± 4.1 years), including six with complete AIS and five with partial AIS (PAIS) were reviewed. In two patients with PAIS (18.1%), histopathology revealed malignancy (bilateral seminoma and gonadoblastoma) and in an additional patient, a benign hamartoma was found. Literature evidence suggests that AIS female phenotype patients retaining their testes through puberty have a 5% chance for developing malignant tumours. Reviewing our results in correlation with literature, we found that PAIS patients may harbour a higher risk of malignancy. In complementation to hormonal tests and cytogenetic techniques, laparoscopic gonadectomy is required to complete the diagnostic work up for AIS as it also adds a final therapeutic approach with low risk and huge benefit. Since laparoscopy is now a well-tolerated and widely accepted gold standard, it should be included in routine management for patients with AIS. Risk of malignancy in PAIS should be investigated in larger cohort of these patients.

Ethics for the Pediatician: Disorders of Sex Development: Optimizing Care

1. Katrina Karkazis, PhD, MPH* 2. Wilma C. Rossi, MD† 1. *Center for Biomedical Ethics, Stanford University, Palo Alto, Calif. 2. †Department of Pediatrics, Children's Hospital of Philadelphia, University of Philadelphia School of Medicine, Philadelphia, Pa. Disorders of sex development (DSD) are “congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical.” (1) Standard practice from the 1950s to the 1990s had been to identify the cause, assess intervention possibilities, and determine the optimal gender assignment for the child. Surgery usually was performed to make the infant's genitals more typical for the sex of rearing and to remove gonads discordant with the sex of rearing. Traditional practice also tended toward paternalistic decision-making and incomplete disclosure to parents and affected individuals about the condition and its treatment. Beginning in the 1990s, adults cared for as children voiced concerns about their care, citing problems with sexual function due to surgical complications, feelings of being on medical display, lifelong struggles with depression and shame, incomplete information about their condition, and insufficient attention by medical caregivers to quality of life issues. Based on patients' criticisms of care, medical experts and patient advocates convened to revise the model of care for DSD, resulting in the “Consensus Statement on the Management of Intersex Disorders.” (1) The Consensus Statement reflects the current standard of care for DSD and is used as the basis for the following discussion, highlighting important shifts from previous treatment paradigms. Children born with DSD need a specialized approach to facilitate the highest quality of decision-making required to achieve the best possible care. ### Team Approach Care for children who have DSD requires an experienced multidisciplinary team comprised of a range of pediatric subspecialists (eg, endocrinology, urology/surgery, psychology/psychiatry, social work, nursing, bioethics, and child life). (1)(2) The team also should include the child's pediatrician (or other primary medical …

How should we classify intersex disorders? authors’ response

How should we classify intersex disorders? authors’ response

Should Male Gender Assignment be Considered in the Markedly Virilized Patient With 46,XX and Congenital Adrenal Hyperplasia?

We assess the outcome in 46,XX men with congenital adrenal hyperplasia who were born with Prader 4 or 5 genitalia and assigned male gender at birth. After receiving institutional review board approval and subject consent we reviewed the medical records of 12 men 35 to 69 years old with 46,XX congenital adrenal hyperplasia, of whom 6 completed social and gender issue questionnaires. All subjects were assigned male gender at birth, were diagnosed with virilizing congenital adrenal hyperplasia at age greater than 3 years and indicated a male gender identity with sexual orientation to females. Ten of the 12 subjects had always lived as male and 2 who were reassigned to female gender in childhood subsequently self-reassigned as male. Nine of the 12 men had long-term female partners, including 7 married 12 years or more. The 3 subjects without a long-term female partner included 1 priest, 1 who was reassigned female gender, married, divorced and self-reassigned as male, and 1 with a girlfriend and sexual activity. All except the priest and the subject who was previously married when female indicated a strong libido and frequent orgasmic sexual activity. Responses to self-esteem, masculinity, body image, social adjustment and symptom questionnaires suggested adjustments related to the extent of familial and social support. Outcome data on severely masculinized 46,XX patients with congenital adrenal hyperplasia who were assigned male gender at birth indicate male gender identity in adulthood with satisfactory male sexual function in those retaining male genitalia. In men who completed questionnaires results were poorer in those lacking familial/social support. Male gender of rearing may be a viable option for parents whose children are born with congenital adrenal hyperplasia, a 46,XX karyotype and male genitalia, although positive parental and other support, and counseling are needed for adjustment.

The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma

Gonadoblastoma is a rare gonadal neoplasm that occurs almost exclusively in individuals who are phenotypically females. Most cases develop in women who have an abnormal karyotype in which at least a portion of the centromeric region of the short arm of chromosome Y is present, a region often referred to as the GBY locus. Of the several genes present in the GBY locus, the TSPY1 gene (which encodes testis-specific protein, a protein thought to have a role in cell cycle regulation) appears to be the most likely to have a critical role in the pathogenesis of gonadoblastoma. To evaluate the association of TSPY1 with the tumor, we developed an interphase fluorescent in situ hybridization assay that uses probes that target the region of the GBY locus that contains TSPY1 and a commercially available chromosome X CEP probe. Using this set of probes in a dual-color approach, we evaluated 6 cases of gonadoblastoma identified from our files and found that both TSPY1 and chromosome X were present in 5 (84%) of 6 cases; in these 5 cases, the adjacent nonneoplastic gonadal parenchyma showed the same genotype as the tumor. Of 6 cases, 1 (16%) showed no evidence of TSPY1; in this case, which occurred in a gravida 2 para 2 woman, 2 X chromosomes were present in the nonneoplastic ovary, the gonadoblastoma, and associated dysgerminoma and granulosa cell tumors. From a basic science perspective, our data demonstrate that the TSPY1 gene is present in most gonadoblastomas, supporting the hypothesized role for TSPY1 in gonadoblastoma tumorigenesis; the lack of TSPY1 in a fertile woman suggests that other loci can, however, substitute for TSPY1 in the development of the tumor. From a clinical perspective, our data show that interphase fluorescence in situ hybridization targeting TSPY1 is a straightforward approach that can be used in the evaluation of Y-associated intersex disorders in women who develop gonadoblastoma.

Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals

There have been considerable advances concerning understanding of the early and later stages of ovarian development; a number of genes have been implicated and their mutations have been associated with developmental abnormalities. The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 (WT1) and steroidogenic factor 1 (SF1). Four genes are likely to be involved in the subsequent stages of ovarian development (WNT4, DAX1, FOXL2 and RSPO1), but none is yet proven to be the ovarian determining factor. Changes in nomenclature and classification were recently proposed in order to incorporate genetic advances and substitute gender-based diagnostic labels in terminology. The term "disorders of sex development" (DSD) is proposed to substitute the previous term "intersex disorders". Three main categories have been used to describe DSD in the 46,XX individual: 1) disorders of gonadal (ovarian) development: ovotesticular DSD, previously named true hermaphroditism, testicular DSD, previously named XX males, and gonadal dysgenesis; 2) disorders related to androgen excess (congenital adrenal hyperplasia, aromatase deficiency and P450 oxidoreductase deficiency); and 3) other rare disorders. In this mini-review, recent advances concerning development of the genital system in 46,XX individuals and related abnormalities are discussed. Basic embryology of the ovary and molecular pathways determining ovarian development are reviewed, focusing on mutations disrupting normal ovarian development. Disorders of sex development according to the revised nomenclature and classification in 46,XX individuals are summarized, including genetic progress in the field.

How should we classify intersex disorders?

It is a tall order to expect 50 experts on a subject in medicine to reach unanimity when tasked with devising an alternative nomenclature and classification system for a set of conditions that manifest as intersex at birth or at puberty with somatic sex characteristics discordant with sex assignment. Yet, that was attempted in 2005 and realized as what has now become known as the Chicago Consensus on management of intersex disorders [1]. The task was approached using the strategy of consensus decision making, which involves reaching general agreement or an accord amongst a group of individuals. While it is acknowledged that some participants may express divergent views, they are nevertheless willing to accede to the ethos that the sum of the parts is more important than the individual components. This enables a concordat to be reached for which the group as a whole is responsible. When such a consensus document reaches the public domain, it is inevitable that experts in the subject area will exercise their right to dissent over certain elements. Such debate is to be welcomed, for which an opportunity has arisen in this issue of the Journal based on the paper by the Aaronsons [2]. The authors acknowledge that the acronym DSD for disorders of sex development, a generic term that was never intended to have the same connotation as the term intersex, has been rapidly and widely accepted. That is indeed the case, based on a recent survey of 60 centres in Europe who care for families with DSD and evidence of widespread usage of the acronym in the medical and scientific literature [3,4]. However, their dissent focuses on the proposed classification system, which merely uses DSD as a handle on which to hang just three simple starting

How should we classify intersex disorders?

The term disorders of sex development (DSD) has achieved widespread acceptance as replacement for the term intersex, but how to classify these conditions remains problematic. The LWPES-ESPE (Lawson Wilkins Pediatric Endocrine Society and European Society of Paediatric Endocrinology) Consensus Group proposed using the karyotype as a basis for classification; however, this is but a crude reflection of the genetic makeup, is diagnostically non-specific, and is not in itself relevant to subsequent clinical developments. The historical classification of intersex disorders based on gonadal histology is currently out of favor, being tainted by association with the terms hermaphroditism and pseudohermaphroditism. We believe this is regrettable, for the histology of the gonad remains fundamental to the understanding of normal and aberrant sexual development by medical students and residents in training, as well as being a major determinant of clinical outcome for the patient. We propose a comprehensive classification of those DSD conditions generally regarded as belonging under the heading of intersex, based on gonadal histology. Biopsy will not be required when the diagnosis is clearly established biochemically or by gene studies as the histology can be confidently predicted. It will only be required when an ovotestis or dysgenetic gonad is suspected in order to determine the definitive diagnosis.

ORIGINAL RESEARCH—INTERSEX AND GENDER IDENTITY DISORDERS: Neuroimaging Differences in Spatial Cognition between Men and Male-to-Female Transsexuals Before and During Hormone Therapy

Neuropsychological abnormalities in transsexual patients have been reported in comparison with subjects without gender identity disorder (GID), suggesting differences in underlying neurobiological processes. However, these results have not consistently been confirmed. Furthermore, studies on cognitive effects of cross-sex hormone therapy also yield heterogeneous results. We hypothesized that untreated transsexual patients differ from men without GID in activation pattern associated with a mental rotation task and that these differences may further increase after commencing of hormonal treatment. The present study investigated 11 male-to-female transsexual (MFTS) patients prior to cross-sex hormone therapy and 11 MFTS patients during hormone therapy in comparison with healthy men without GID. Using functional magnetic resonance imaging at 3-Tesla, a mental rotation paradigm with proven sexual dimorphism was applied to all subjects. Data were analyzed with SPM5. Patterns of brain activation associated with a mental rotation task. The classical mental rotation network was activated in all three groups, but significant differences within this network were observed. Men without GID exhibited significantly greater activation of the left parietal cortex (BA 40), a key region for mental rotation processes. Both transsexual groups revealed stronger activation of temporo-occipital regions in comparison with men without GID. Our results confirmed previously reported deviances of brain activation patterns in transsexual men from men without GID and also corroborated these findings in a group of transsexual patients receiving cross-sex hormone therapy. The present study indicates that there are a priori differences between men and transsexual patients caused by different neurobiological processes or task-solving strategies and that these differences remain stable over the course of hormonal treatment.

V1106 USE OF AUTOLOGOUS BUCCAL MUCOSA VAGINOPLASTY IN CHILDREN: SURGICAL TECHNIQUE

You have accessJournal of UrologyPediatrics1 Apr 2010V1106 USE OF AUTOLOGOUS BUCCAL MUCOSA VAGINOPLASTY IN CHILDREN: SURGICAL TECHNIQUE Juan Prieto, Nicol Bush, and Linda Baker Juan PrietoJuan Prieto Corpus Christi, TX More articles by this author , Nicol BushNicol Bush Dallas, TX More articles by this author , and Linda BakerLinda Baker Dallas, TX More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2010.02.2303AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Complex vaginal replacement surgeries often require donor materials such as skin grafts, myocutaneous flaps, or bowel, each with significant disadvantages. As an alternative, we present our technique using autologous buccal mucosa grafting for primary construction and secondary repair for partial or complete vaginoplasty. METHODS From 2004 to present, 20 females have presented with primary or secondary post-surgical vaginal abnormalities requiring complex vaginoplasty. Our indications for buccal mucosa vaginoplasty have included: 1) primary repair of vaginal agenesis (Mayer-Rokitansky syndrome), cloacal abnormalities, and intersex disorders, and 2) secondary postsurgical vaginal repair of vaginal stenosis or vaginal foreshortening after vaginoplasty. This video demonstrates our surgical technique in a Mayer-Rokitansky syndrome patient. RESULTS For total neovagina creation, a transverse incision is made over the mucosal prominence at the level of the expected location of the hymen. Blunt dissection and electrocautery are used to dissect between the urethra and anorectum to depth 8 cm and width 3 fingerbreadths. Bilateral buccal mucosa is harvested, prepared on the bench and sewn end to end. The graft mid-portion is secured with interrupted 4-0 chromic to the apex of the previously dissected vaginal vault. The meshed graft is then stretched and tacked into position with interrupted 4-0 chromic sutures to achieve 360 degree coverage of the entire neovaginal area. A spongy vaginal mold is left in-situ for 5-7 days. CONCLUSIONS Buccal mucosa generates a moist, hairless, nonkeratinized neovaginal mucosa with excellent color and texture matching the genital/vaginal skin. It leaves no visible surgical scars, avoids abdominal bowel surgery and has no excess mucous production. It is an ideal replacement material for primary or secondary vaginoplasty with excellent early results. © 2010 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 183Issue 4SApril 2010Page: e429-e430 Advertisement Copyright & Permissions© 2010 by American Urological Association Education and Research, Inc.MetricsAuthor Information Juan Prieto Corpus Christi, TX More articles by this author Nicol Bush Dallas, TX More articles by this author Linda Baker Dallas, TX More articles by this author Expand All Advertisement Advertisement PDF DownloadLoading ...

Cytogenetic Analysis of 1400 Referral Cases: Manipal Experience

Karyotypes were examined in 1400 cases, suspected of having chromosomal abnormalities. A total of 343 (24.5 per cent) had abnormal karyotypes including 43 (3.07%) polymorphic variants; 14.28% of children exhibited chromosome abnormalities including 12.07% of Down syndrome, 2.21% of congenital anomalies including global developmental delay, 0.5% with intersex disorders. Chromosomal abnormalities were observed in individuals with pubertal failures including short stature and amenorrhea in females (3.35%), and were recorded in 0.43% males. Cases of reproductive failures (3.64%) included recurrent miscarriages, bad obstetric history and infertility. Of these 2.28% were instances of polymorphic variants. Fifty seven patients who diagnosed of various symptoms of cancer were studied and found to have 56% structural variations including Philadelphia chromosome. Cytogenetic analysis is found to be useful in providing genetic counseling.

Ambiguous Genitalia: A Case Study Involving a 24-Week-Gestation Twin B

When recognized in the extremely premature infant in the delivery room, ambiguous genitalia is a devastating diagnosis. It can be even more so, if the diagnosis is made several weeks later. The case study reported here illustrates this point. A 24-week Twin B infant born with multiple congenital anomalies was originally thought to be a male. After two weeks, assessment by an astute bedside nurse revealed that the infant's genitalia were not consistent with those of other 24-week males. A complete workup followed. Twin B was indeed a female with ambiguous genitalia and a high cloacal anomaly. Faced with the uncertainty of ambiguous genitalia, many parents feel emptiness, grief, and guilt. This article differentiates among the various intersex disorders and their treatments, and discusses physical findings, embryologic development, incidence, and treatment plans for male pseudohermaphroditism, true hermaphroditism, gonadal dysgenesis, and female pseudohermaphroditism. Current management strategies are contrasted with protocols of the 1950s to show changes over time.

Gender Identity in a Female With Intersex Disorder of Sexual Development Due To Congenital Adrenal Hyperplasia: A Management Dilemma

Gender Identity in a Female With Intersex Disorder of Sexual Development Due To Congenital Adrenal Hyperplasia: A Management Dilemma

Complete androgen insensitivity syndrome: diagnosis and management

Complete androgen insensitivity syndrome (CAIS) is an X-linked genetic disorder affecting 46,XY individuals, characterized by the loss of function of the androgen receptor gene resulting in complete peripheral androgen resistance. Patients have a nonambiguous female phenotype with normal female external genitalia. Gonads are undescended testes (either intra-abdominal or inguinal), there is no uterus and the length of the vagina is usually very short. Gender identity is always female. This review focuses on the importance of accurate diagnosis of CAIS versus partial androgen insensitivity syndrome and other disorders of sex development by genotyping the androgen receptor, and raises issues of the optimal management of these patients. In the era of the Consensus Statement on Management of Intersex Disorders, we provide new insights into CAIS screening, surgical management of the gonads (balancing between hormonal production and malignancy risk) and of vaginal adequacy, and the ethics concerned with the disclosure to patients and their families.