True Hermaphroditism Research Articles

A Lack of Association between Polymorphisms of Three Positional Candidate Genes (CLASP2, UBP1, and FBXL2) and Canine Disorder of Sexual Development (78,XX; SRY-Negative)

A disorder of sexual development (DSD) of dogs with a female karyotype, missing SRY gene, and presence of testicles or ovotestes is quite commonly diagnosed. It is suggested that this disorder is caused by an autosomal recessive mutation; however, other models of inheritance have not been definitely ruled out. In an earlier study it was hypothesized that the mutation may reside in a pericentromeric region of canine chromosome 23 (CFA23). Three positional candidate genes (CLASP2, UBP1, and FBXL2) were selected in silico in the search for polymorphisms in 7 testicular or ovotesticular XX DSD dogs, 8 XX DSD dogs of unknown cause (SRY-negative, with enlarged clitoris and unknown histology of gonads), and 29 normal female dogs as a control group. Among the 15 molecularly studied dogs with enlarged clitoris there were 3 new cases of testicular or ovotesticular XX DSD and 4 new cases of XX DSD with unknown cause (histology of the gonads unknown). Altogether, 11 (including 10 novel) polymorphisms in 5′- and 3′-flanking regions of the studied genes were found. The distribution analysis of these polymorphisms showed no association with the DSD phenotypes. Thus, it was concluded that the presence of the causative mutation for testicular or ovotesticular XX DSD in the pericentromeric region of CFA23 is unlikely.

Transverse Testicular Ectopia: A Rare Anomaly

Crossed Testicular Ectopia (CTE)/Transverse Testicular Ectopia (TTE) is a rare but well known congenital anomaly, in which both gonads migrate toward the same hemiscrotum. It is usually associated with other abnormalities such as persistent Mullerian duct syndrome, True Hermaphroditism, Inguinal Hernia, Hypospadias, Pseudohermaphroditism, and scrotal anomalies. We report a case of 10 month old male child with left inguinal hernia with suspicious left inguinal swelling and empty right scrotum. Diagnosis was confirmed preoperatively by ultrasound followed by diagnostic laparoscopy and open inguinal exploration for orchiopexy.

Impact of laparoscopy for diagnosis and treatment in patients with disorders of sex development

ObjectiveTo review laparoscopy in patients with disorders of sex development (DSD) in order to clarify its usefulness in diagnosis, devising subsequent therapeutic strategies and managing patients with various conditions. Patients and methodsBetween April 1992 and December 2012, 29 laparoscopic surgeries were performed in 25 DSD patients. Among them, ten were diagnostic laparoscopy including gonadal biopsy, and 19 were therapeutic laparoscopy. Surgical procedures and complications were evaluated. ResultsFor diagnostic laparoscopy, laparoscopic gonadal biopsy was performed in three patients. Inspection, with or without open gonadal biopsy, was performed on four out of seven patients with 46XY DSD or mixed gonadal dysgenesis (MGD). Additional surgery was planned and performed based on diagnostic laparoscopic findings in six out of seven patients. In the three patients with ovotesticular DSD, the gonadal pathology was diagnosed as: testis/ovary in one, testis/ovotestis in one and ovary/ovotestis in one – this was from the laparoscopic inspection and/or gonadal biopsy. However, the final diagnoses were bilateral ovotestis in two patients and ovary/ovotestis in one patient.For therapeutic laparoscopy, surgical procedures were: gonadectomy in 17 patients (bilateral in 13, unilateral in three, partial in two); hysterectomy in two patients; orchiopexy in one; and sigmoid vaginoplasty in one patient (included multiple procedures). There were no severe perioperative complications. In the four patients with a history of diagnostic laparoscopy, no severe intra-abdominal adhesions that would disturb therapeutic laparoscopic surgery were observed. ConclusionWhile diagnostic laparoscopy was helpful in devising a therapeutic surgical strategy in most of the patients with DSD who were suspected as having complex gonadal status or Müllerian duct derivatives, attention must be paid to precisely diagnosing the gonadal status in ovotesticular DSD. On the other hand, therapeutic laparoscopic surgeries were valuable procedures in treating DSD patients, even with a history of previous diagnostic laparoscopy.

PD20-11 RESULTS OF VAGINOPLASTY

You have accessJournal of UrologySexual Function/Dysfunction/Andrology: Surgical Therapy1 Apr 2014PD20-11 RESULTS OF VAGINOPLASTY christoper wright and Moneer Hanna christoper wrightchristoper wright More articles by this author and Moneer HannaMoneer Hanna More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2014.02.1701AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail Introduction and Objectives The use of bowel for vaginal construction is a well established procedure. The purpose of this presentation is to review the outcomes of vaginoplasty using either a segment of small bowel or the sigmoid colon, in the form of a pedicled tube or in a detubularized reconfigured fashion. We will discuss the lessons learned from 35 vaginoplasties over a 32 year period. Methods Between 1980 and 2012 thirty-five children and young adults between 1-21 years old underwent vaginal construction. The diagnoses were Meyer-Rokitansky Syndrome (19), micropenis (5), complete androgen insensitivity (3), 46XY cloacal exstrophy (3), aphallia (3), 46XY bladder exstrophy (1) and true hermaphrodite (1). The sigmoid colon was used in (22), small bowel (12) and urothelium (1). In 12 patients (5 ileum and 7 sigmoid) the bowel segments were detubularized and reconfigured into a pouch. This technique was advocated in cases where the mesentery was short and did not allow the distal end of the bowel to reach the perineum without tension. This surgical method was helpful in avoiding traction on the vascular mesenteric pedicle, but added some operative time. An inverted V-shaped perineal skin flap was incorporated into the posterior wall of the neo-vagina in 26/35 patients. In 9 patients the sigmoid colon was anastomosed in a circumferential manner to the short blind ending vaginal dimple. Results 28 patients were followed for at least one year, 10 for 5 years, 7 for 17 years and 1 for 30 years. Seven patients from abroad were followed by their local surgeon for at least 1 year. 2/9 sigmoid vaginas in which the perineal skin flap was omitted developed stenosis. Both underwent Y-V plasty, one restenosed and a second revision was done followed by daily dilation. Both had patent introitus when last seen. One patient with an ileal pouch vagina developed stenosis 10 years after the onset of puberty and was successfully corrected. One child developed mucosal prolapse and is awaiting revision. 19/28 are sexually active and report no dyspareunia. Conclusions Intestinal segments can be used to provide a cosmetic self-lubricating neovagina. Detubularization and reconfiguration to form a pouch reduces the traction on the mesentery of the bowel segment, which ensures adequate blood supply to the distal entero-cutaneous junction. The inverted V-shaped perineal skin flap should be incorporated in the anastomosis to avoid circumferential suture line and introital stenosis. © 2014FiguresReferencesRelatedDetails Volume 191Issue 4SApril 2014Page: e615 Advertisement Copyright & Permissions© 2014MetricsAuthor Information christoper wright More articles by this author Moneer Hanna More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...

Long-Term Followup of a Large Cohort of Patients with Ovotesticular Disorder of Sex Development

We present the followup of a large cohort of patients with ovotesticular disorder of sex development treated at a single tertiary center. We reviewed the records of 20 patients with ovotesticular disorder of sex development. We retrospectively evaluated clinical and surgical characteristics. A prospective study was also performed, including evaluation of surgical results, gonadal function, sexual activity and voiding symptoms of these patients during adulthood. All patients had ambiguous genitalia, including 18 with a 46,XX karyotype and 2 with a 46,XX/46,XY karyotype. Gender assignment at birth was male in 13 patients and female in 7. Three females were later reassigned to the male gender. Bilateral gonadectomy was performed in 10 patients. Testicular tissue was preserved in 8 males and ovarian tissue was preserved in 2 females. Average followup was 25 years (range 4 to 46). Puberty started spontaneously in 14 patients between ages 11 and 14 years. Seven patients showed spontaneous puberty after conservative gonadal surgery and 4 required hormonal replacement during adulthood. The most frequent complications in males were urethral fistula in 6 and late urethral stenosis in 3. Two patients with urethral stenosis had symptoms 10 years postoperatively. One female presented with temporary dyspareunia. In adulthood 8 males and 2 females reported sexual activity. All male patients reported orgasm and 2 reported ejaculation. Male gender assignment was more prevalent. Long-term followup revealed adequate pubertal development and sexual activity. Complications involving the urethra developed frequently in male patients.

A parthenogenetic maternal and double paternal contribution to an ovotesticular disorder of sex development

BackgroundAn ovotesticular disorder of sex development (OT-DSD) was rarely found in human. The mechanism causing such condition is poorly understood. We hereby reported a 11-year-old child with OT-DSD and a karyotype 46,XX/46,XY, a single maternal and double paternal genetic contribution to the patient.ResultsFluorescence in situ hybridization (FISH), blood grouping, HLA (human leukocyte antigen) haplotyping and a genome-wide scanning of lymphocytes with 398 short tandem repeat microsatellite markers were performed to investigate the origin of the cell lines concerned. ABO typing revealed that two populations of red cells were in the patient, which were group A and group B, both from paternal alleles. HLA haplotyping showed the patient had three haplotypes. Haplotype 1 was inherited from maternity, haplotype 2 and 3 were from paternity. The STR microsatellite analysis showed 25 of the 74 fully informative markers in both parents, three alleles were inherited: one of them was from mother, another two were from father. Seventeen of the thirty-eight paternal markers, the patient inherited two paternal alleles. For 121 informative maternal markers, the patient had a single maternal allele. There were two distinct alleles in locus DXS6810 and DXS1073 on X-chromosome, in which one was from the mother and the other from the father.ConclusionsThe patient was a single maternal and double paternal genetic, which was a type of a parthenogenetic division of a maternal haploid nucleus into two identical nuclei, followed by fertilization by two spermatozoa and fusion of the two zygotes into a single individual at the early embryonic stage. To the best of our knowledge, this is the oldest OT-DSD case of parthenogenetic chimerism. These data provide additional evidence that a parthenogenetic maternal and double paternal contribution causes 46,XX/46,XY OT-DSD.

Gender identity shows a high correlation with Prader score in patients with disorders of sex development (DSD) presenting in mid childhood

In developing countries like Bangladesh, delayed presentation for disorders of sex development (DSD) is common, and provides some special problems for management. There remains significant controversy about appropriate sex assignment in this group. We aimed, therefore, to assess gender identity (GI) in 50 consecutive patients with DSD presenting to a referral centre in Chittagong, Bangladesh, and correlate it with Prader score, to see if the latter could be used to predict GI. A cross-sectional, case-control study of 50 consecutive children with DSD and 50 children with vascular anomalies was conducted in the Pediatric Surgical Clinic, Chittagong Medical College and Hospital. After informed consent, patients and controls provided oral answers to a GI questionnaire and had a detailed history and physical examination. Sex-typed activities were assessed by observations of a structured toy play and the child's selection of a toy to keep. Both patients and parents then completed the Child Game Participation Questionnaire. There were no differences in age (2-16years, mean 8.74) between controls and DSD patients (11 46, XX DSD, 32 46, XY DSD, 4 MGD, 3 ovo-testicular DSD). Fifteen of the DSD patients (30%) came from consanguineous marriages and only 2 of the control patients had consanguinity of their parents. For the 13-question GI interview, there was no overall difference between DSD cases and controls. For the 46, XX DSD subgroup, there was a significantly higher score (11.1±7.1) compared with control girls (4.5±4.7) (p<0.05), while for DSD and control boys, there was a positive correlation with age and GI (p<0.01). Prader score correlated with GI score in both control (r=0.91) and DSD patients (r=0.75) (p<0.01), DSD girls played significantly less with girls' toys than controls (p<0.01), but there was no differences for the boys. Composite scores on GI and gender-related behaviour correlated with Prader score for DSD patients (r=0.61) (p<0.01). This study supports the view that GI and gender-role behaviour should be assessed routinely in DSD patients presenting after the neonatal period, so that sex assignment is in accordance with behaviour. Prader scores showed a good correlation with GI and gender role behaviour.

Elucidation of Distinctive Genomic DNA Structures in Patients with 46,XX Testicular Disorders of Sex Development Using Genome Wide Analyses

Although several genes, including the SRY gene, are involved in testicular differentiation, the entire mechanism of this differentiation remains unclear. We performed genome wide analysis in patients with 46,XX testicular disorders of sex development to comprehensively elucidate the mechanisms oftesticular differentiation. Whole genomic DNA was extracted from the peripheral blood of 4 patients with 46,XX testicular disorders of sex development who were SRY negative. Genomic DNA was hybridized to a GeneChip® human mapping 250K array set. Compared to normal female data, we detected common loss of heterozygosity and copy number variation regions in 4 patients using Genotyping Console™ software. Loss of heterozygosity was detected in 19 regions of 11 chromosomes. Atotal of 27 genes or nearby genomic areas were included in the applicable regions. Copy number loss was recognized in 13 regions of 10 chromosomes, and these regions included 55 genes. Copy number gain was detected in 6 regions of 4chromosomes, which included the upstream region of the SOX3 gene. The regions with loss of heterozygosity did not contain genes associated with testicular differentiation. However, the upstream area of the SOX3 gene, which is located in Xq27.1, was included in the region of copy number gain. These results suggest that high expression of the SOX3 gene led to testicular differentiation despite SRY gene loss. As this applicable area is not within a coding region, genome wide analyses were valuable for detecting thenovel regions associated with testicular differentiation.

Summary of surgical experience of 14 cases hermaphroditism

Objective To evaluate the surgical therapy for hermaphrodites.Methods Retrospective analysis the clinical data of 14 cases of different types of hermaphrodites treated in our hospital from Jan.1995 to Dec.2012,including 4 cases of female pseudohermaphrodite,2 cases of male sex reversal syndrome,3 cases of male pseudohermaphrodite and 5 cases of true hermaphrodites.The gender selection and the following surgical treatment were provided according to patients' protopathy,age,social gender,their desires and their parents' wishes.Results Out of 14 cases,10 cases were operated to women (4 cases of female pseudohermaphrodite,1 case of male pseudohermaphrodite,5 cases of true hermaphrodites),4 patients were operated to men (2 cases of male sex reversal syndrome,2 cases of male pseudohermaphrodite).The operation is relatively easy for the patients who are operated to female,and they all have well developed secondary sexual characteristics and satisfied sexual function after 3 to l0 years of follow-up.For the 4 patients who were operated to male,their penis and testicles are well developed,and 1 case had already entered adolescent period,whose morning erection can be seen normally but no spermatorrhea detected.Further observation is necessary to decide whether he has reproductive function.Conclusions The diagnosis and treatment for children external genitalia malformations should be taken as early as possible.A reasonable choice of gender,the appropriate surgical correction,and hormone replacement therapy in some cases,are feasible treatment with satisfactory effect. Key words: Hermaphroditism; Surgical procedures, elective

Fertility issues in the management of patients with disorders of sex development.

Fertility potential is one of the issues that should be considered by the multidisciplinary team when addressing gender assignment, surgical management, the process of disclosure to patients and their families, and prospective long-term outcomes of individuals with disorders of sex development (DSD). In this article, we review the current evidence of the fertility potential of patients with: (1) dysgenetic DSD, including pure and partial gonadal dysgenesis, asymmetric gonadal differentiation, ovotesticular DSD and 46,XX testicular DSD; (2) 46,XY DSD due to abnormal testicular hormone production or action, including testosterone production deficiencies, dihydrotestosterone deficiency, androgen insensitivity and defects in anti-Müllerian hormone or its receptor, and (3) 46,XX DSD due to excessive androgen exposure in individuals with no testicular tissue, i.e. congenital adrenal hyperplasia and aromatase deficiency.

Genetic analysis in a true hermaphrodite: A case report

Background: True hermaphrodite is one of the rarest variety of disorders of sexual differentiation (DSD) and represents only 5% cases of all. True hermaphroditism is characterized by the development of ovarian and testicular tissue in the same individual. Müllerian and Wolffian structures are usually present, and external genitalia are often ambiguous. The most frequent karyotype is 46, XX or various forms of mosaicism. We report a 8yrs old child of a serving soldier reared as male. He underwent orchidectomy for right undescended testis at 18 months of age. The biopsy of the testis showed presence of granulosa cells. The external genitalia were clearly identified as male penis with hypospadius. The patient reported to us for cyto-molecular analysis. Methods: 8ml of venous blood was collected, 5ml in heparin and 3ml in EDTA. The blood in heparin was processed for lymphocyte culture for 72h followed by Trypsin Giemsa banding of cells arrested in metaphase using standard protocol. Cytogenetic analysis of peripheral blood revealed mosaic karyotype with 90% 46, XX and 10% 47, XXY cell line. Genomic DNA was isolated from blood sample in EDTA and then subjected to PCR amplification of SRY gene which showed desired band at 500 bp (SRY gene). Conclusion: An early gender assessment of true hermaphrodites is of utmost importance for proper psychosocial development of child. Though phallic size is the single most important criteria for gender assessment, a multidisciplinary team of specialists in consultation with parents must assign sex of the child on basis of genitalia, gonads and genetic factors.

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

BackgroundPartial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,XY, whereas a 45,X/46,XY mosaicism or its variants (more than two lineages and/or structural abnormalities of the Y chromosome) is generally found in MGD. Such mosaics are also compatible with female phenotype and Turner syndrome, ovotesticular disorder of sex development, and infertility in men with normal external genitalia. During the last few years, evidences of a linkage between Y microdeletions and 45,X mosaicism have been reported. There are also indications that the instability caused by such deletions might be more significant in germ cells. The aim of this work was to investigate the presence of Y chromosome microdeletions in individuals with PGD and in those with 45,X/46,XY mosaicism or its variants and variable phenotypes.MethodsOur sample comprised 13 individuals with PGD and 15 with mosaicism, most of them with a MGD phenotype (n = 11). Thirty-six sequence tagged sites (STS) spanning the male specific region (MSY) on the Y chromosome (Yp, centromere and Yq) were analyzed by multiplex PCR and some individual reactions.ResultsAll STS showed positive amplifications in the PGD group. Conversely, in the group with mosaicism, six individuals with MGD had been identified with Yq microdeletions, two of them without structural abnormalities of the Y chromosome by routine cytogenetic analysis. The deleted STSs were located within AZFb and AZFc (Azoospermia Factor) regions, which harbor several genes responsible for spermatogenesis.ConclusionsAbsence of deletions in individuals with PGD does not confirm the hypothesis that instability of the Y chromosome in the gonads could be one of the causes of such condition. However, deletions identified in the second group indicate that mosaicism may be associated with Y chromosome abnormalities detectable only at the molecular level. If patients with mosaicism and Y microdeletions reared as males decide to undergo in vitro fertilization, Y chromosomes which tend to be unstable during cell division may be transmitted to offspring.

Girl? Interrupted

Girl? Interrupted

Etiology and clinical profile of children and adolescents with disorders of sex development (DSD) presenting with ambiguous external genitalia

Results 42 patients (age-neonate to 18 years, 14 (46 XX DSD), 26(46XY DSD) and 2(sex chromosome DSD) were evaluated.46 XX DSD was due to Congenital Adrenal Hyperplasia (CAH) (12/14) and SyndromicDSD(2/14). All presented with clitoromegaly and labioscrotal fusion. 5/12presented in infancy, with Adrenal crisis and severe (prader stage ≥3) virilization(Salt Wasting CAH), 7 had Simple VirilizingCAH. Hypospadias was the most common presentation in 46XY DSD. Partial Androgen Insensitivity syndrome (PAIS) (8/26, 30%) was the most common etiology.4 had 5 alpha reductase deficiency, (1 had isolated micropenis and1 cryptorchidism with PraderWilli Syndrome while other 2 had hypospadias). 4 patients had Complete Androgen insensitivity Syndrome, 2(Pure Gonadal dysgenesis), 1 (SyndromicDSD),1 (CAH, 21 hydroxylase deficiency with peripheral precocious puberty), 1 (Vanishing testis syndrome). 5 patients had inconclusive biochemical profile. 6 patients presented with virilization at puberty. Though gender identity prior to puberty was female, history suggestive of conflict regarding the gender role was present. 4/6 were reassigned a male gender, while 2 continued as females. 1 patient of Sex Chromosome DSD, had Ovotesticular DSD with rare mosaic karyotype of 46XX(p-)(P21-23)/45X 80%/20%, while other had 46XY/46XX 58%/42%chimerism.

La pesadilla de lindley - la biología sexual de &lt;i&gt;catasetum&lt;/i&gt; y &lt;i&gt;cycnoches&lt;/i&gt;

The sexual dimorphism of the genera Catasetum and Cycnoches is now common knowledge to orchid growers and investigators. Female flowers of Catasetum are all non-resupinate with a hooded lip, whereas the male flowers can be non-resupinate with a hooded lip or resupinate with a differently shaped lip, depending on the species. Only with male flowers present can the species of a Catasetum can be determined. In Cycnoches, flowers of both sexes are resupinate with a slender and long, curved column, resembling a swan’s neck. The lip of male flowers of C. sect. Heteranthae is provided with finger-like projections, but female flowers of that section and those of C. sect. Cycnoches have an entire lip. Female flowers of both genera observed in the Botanical Garden of Munich bear pollinaria, but they are without any function. Slight movements of the female inflorescences of Catasetum cause the pollinaria to fall off, and as a result their presence is often overlooked. In female pollinaria of Catasetum the caudicles are absent, making pollination impossible in nature. Their pollen is germinable, and application of the pollinia to the stigma of the same flower yields viable seeds. The seldomobserved intermediate forms have a stigmatic cavity as in the male flowers. Their pollinaria are similar to those of the female flowers, so they are also non-functional. They do not serve either as males or females. In female Cycnoches, the anther cap does not fall off, so preventing pollination by such a pollinarium. The pollinia are encapsulated by the anther cap and so cannot come into contact with the stigma of another flower. Here, too, germination tests of the female pollen were positive. It is suspected that selfing of the female flowers here also will result in viable seeds. In both cases the female flowers are true hermaphrodites, but because of their limited male function one should think of them as functional female flowers. Male flowers, however, do not develop precursors of ovules, and a stigma is not present. Given the different flower morphologies and the pollination processes, one assumes that the floral fragrances should differ among the sexes of Catasetum flowers. The battered pollinator will remember the negative experience with the male flowers. So different fragrances in the female flowers would be the way out of this dilemma. Floral fragrances of five Catasetum species and two Cycnoches species were investigated by gas chromatography. Only weak differences in the fragrance composition of the separate sexes were detected, begging several questions. What are the forces driving the pollinator from male to female flowers? Is the weight of the pollinarium sufficient to explain avoidance of the male flowers? Does the bee still remember the disagreeable episode? Is identification effected only by visual senses?

English

BACKGROUND: Ambiguous genitalia are currently defined as disorders of sexual development (DSD) and constitute a complex, major social and medical emergency which is fortunately very rare. In developed countries, abnormalities of external genitalia occur in 1.7% of new born. Worldwide, approximately 1 in 2000 children are born with disorders of sexual development. Of all the causes, congenital adrenal hyperplasia remains the most common Aetiology. AIMS AND OBJECTIVES: The present study aims to analyse the various disorders of sexual development, their clinical presentation, histopathological findings and their treatment modalities. MATERIAL AND METHODS: The present study was undertaken at the Department of Pathology, Paediatric referral Hospital, Hyderabad from June 2004 to May 2009, eleven specimens were from children who presented with disorders of sexual development. Detailed case history was taken and all the results were reviewed. The specimens received included Gonadectomies and biopsies from gonads. The Haematoxylin and eosin stained slides were histologically evaluated. RESULTS: This study included a total of 11 children with disorders of sexual development, aged between 1 day and 9 years. Among them 7 were being reared as males, 3 as females, 1 as ambiguous. Out of 11 cases studied, 3 were diagnosed as male pseudo hermaphroditism, 1 female pseudo hermaphroditism, 1 male gonadal dysgenesis, 3 True hermaphroditism and 3 abnormal gonadal development. CONCLUSION: Histopathological confirmation of the gonadal sex plays an important role in the management of these children .There should be no change in sex beyond the second year of life. In the gender assignment, the gold standard is that genetic females should be reared as females. In genetic males, gender assignment is based on size of phallus. Early gender assignment & precise diagnosis in disorders of sexual development is important. Surgical correction, hormonal supplementation and psychosocial management are the various treatment options available.

Imaging of disorder of sex development

BACKGROUND AND OBJECTIVESDisorders of sex development (DSDs), formerly termed ambiguous genitalia, are a group of conditions where the external genitalia appear abnormal. It represents a true medical and social emergency that needs a multidisciplinary team approach for elucidation. The pediatric radiologist plays an important role in defining the genital anatomy that remains one of the most important factors in sex determination, in addition to chromosomal analysis.DESIGN AND SETTINGSA retrospective study, conducted between January 1995 and December 2010.MATERIALS AND METHODSImaging studies (ultrasound, genitogram, and/or magnetic resonance imaging) were performed in patients with ambiguous genitalia, confirmed by chromosomal analysis and appropriate hormonal investigations.RESULTSThe sensitivity of ultrasound is 89.5%, while its specificity reaches 100%. Retrograde genitogram is more invasive and less sensitive, as the yield of determining the presence of a uterus ± vagina is 84.2%. However, magnetic resonance imaging (MRI) is more sensitive for gonadal tissue identification. Its specificity reaches up to 100% and can provide detailed internal structures (uterus, fallopian tubes, and gonads).CONCLUSIONUltrasound examination is still the main modality of choice for screening patients with ambiguous genitalia. It is cheap and readily available everywhere. In addition to elucidating the uterus in 89.5%, it can also give more information on the adrenal glands. However, genitography is good—84.2% in elucidating genital anatomy—but it gives no information of the gonads and it is time consuming and invasive. MRI is helpful in cases with equivocal ultrasound, reaches 100% in elucidating internal extractor, and therefore could be reserved for that.

Management of children with disorders of sex development: 20-year experience in southern Thailand

Disorders of sex development (DSD) is a group of sexual differentiation disorders resulting in genital anomalies with defects in gonadal hormone synthesis and/or incomplete genital development. These conditions result in problems concerning the sex assignment of the child. This study aims to describe the clinical features, diagnosis and management of children with DSD in southern Thailand. The medical records of 117 pediatric patients diagnosed with DSD during the period of 1991-2011 were retrospectively reviewed. Disorders of sex development were categorized into 3 groups: sex chromosome abnormalities (53.0%), 46,XX DSD (29.9%) and 46,XY DSD (17.1%). The two most common etiologies of DSD were Turner syndrome (36.8%) and congenital adrenal hyperplasia (29.9%). Ambiguous genitalia/intersex was the main problem in 46,XX DSD (94%) and 46,XY DSD (100%). Sex reassignment was done in 5 children (4.3%) at age of 3-5 years: from male to female in 4 children (1 patient with congenital adrenal hyperplasia, 1 patient with 45,X/46,XY DSD, and 2 patients with 46,XX ovotesticular DSD) and from female to male in 1 patient with 46,XX ovotesticular DSD. Of the total 20 children with 46,XY DSD, 16 (80%) were raised as females. Management of DSD children has many aspects of concern. Sex assignment/reassignment depends on the phenotype (phallus size) of the external genitalia rather than the sex chromosome.

Vaginoplasty using the inner surface or mucosa of the prepuce in children with congenital adrenal hyperplasia

ObjectiveTo describe and present the results of the use of the inner surface or mucosa of the prepuce in vaginoplasty for ambiguous genitalia. Patients and MethodsThis technique can be used alone in low vaginal insertion or associated with a total urogenital mobilization in cases of high vagina. During the past 7 years, we have performed 18 vaginoplasties using the described technique in 46, XX DSD (female pseudohermaphroditism). All patients had 21-hydroxylase deficiency; four had the simple virilizing form and 14 had additional salt loss. The age of the patients at surgery varied from 4 to 28 months (average 11.2). ResultsThe final cosmetic results were considered good by the parents and surgeon for the majority of our patients, and satisfactory in three cases. Clinical examination revealed stenosis of vaginal introitus in only one patient (which responded very well to one dilatation) and one urethra-vaginal fistula. ConclusionThis technique of vaginoplasty, simple in its realization and answering the purpose of treatment with few complications, can be used in the feminizing genitoplasty of young children with 46,XX DSD, ovotesticular DSD (true hermaphroditism), mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism.

Hernia Uteri Inguinalis in a Case of Ovotesticular Disorder of Sexual Differentiation

An 18-year-old phenotypic male presented with an irreducible left inguinal mass, gynecomastia, and hypospadias. This mass on exploration was found to be a nonfunctional uterus with ipsilateral ovary and was excised. Further investigation confirmed the presence of a contralateral testis and a genotype of 46, XX. This confirmed the diagnosis of ovotesticular disorder of sexual differentiation (formerly true hermaphroditism) with obstructed hernia uteri inguinalis. The patient was raised as a male. Subcutaneous mastectomy for gynecomastia and neourethra construction with full thickness skin graft for hypospadias were performed. Hernia uteri inguinalis is rarely seen in this condition with only 2 cases being reported worldwide thus far, including our case.