The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience.

OBJECTIVE: To describe the clinical characteristics, biochemistry, histopathology, and long-term outcomes in subjects with ovotesticular (OT) disorder of sex development (DSD). STUDY DESIGN: This is a retrospective subset analysis of 64 cases of histologically confirmed OT DSD. RESULTS: All subjects were South African; 97% (n = 62) were African and 92% (n = 59) were of Zulu ethnicity. The most common karyotype was 46,XX (88%; n = 56), followed by 46,XY (8%), 46,XY/45,X (3%), and 46,XX/46,XY (1%). The median age at presentation was 7 months (0.5 months to 5.1 years). Sixty-one of the subjects (95%) presented with DSD. The ovotestis was the most frequent gonad (56%), followed by the ovary (23%) and the testis (16%). Testes were more commonly located on the right and ovaries on the left (p < 0.0001). The male gender was the predominant sex of rearing in two-thirds of the subjects. Gender dysphoria was noted in 8 subjects (11%) at a median of 6.4 (4.3-9.3) years. Long-term follow-up (n = 14) revealed spontaneous puberty in 5 subjects, gender dysphoria in 2 subjects, and neuropsychiatric disorders in 4 subjects. CONCLUSION: OT DSD is an important differential diagnosis in Black South Africans with 46,XX DSD.

Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre.

BACKGROUND: The objective of the study was to describe the prevalence, clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSDs) presenting to a tertiary referral centre. METHODS: This is a retrospective review of all cases of DSD referred to the Paediatric Endocrine Unit in Inkosi Albert Luthuli Central Hospital (IALCH) from January 1995 to December 2014. RESULTS: A total of 416 children (15.1%; CI: 13.8%-16.5%) were diagnosed with DSD. The aetiological diagnosis based on the current classification [Lawson Wilkins Paediatric Endocrine Society (LWPES) and European Society for Paediatric Endocrinology (ESPE)] was sex chromosome DSD in 9.5% (n=33), 46 XX DSD in 33% (n=114) and 46 XY DSD in 57.5% (n=199). The most common diagnoses in descending order were a disorder in androgen synthesis and action (not classified) in 53% (n=182), ovotesticular DSD in 22% (n=75) and congenital adrenal hyperplasia (CAH) in 10% (n=36). Overall the median age of presentation was 10 months (IQR: 1 month-4.5 years). There was a significant relationship (p<0.001) between the age of presentation and aetiological diagnosis. The majority (97%) of African patients had a diagnosis of 46 XX DSD. Prematurity was present in 47% (n=83) of children with 46 XY DSD (p<0.001). CONCLUSIONS: DSD is not an uncommon diagnosis in African patients in sub-Saharan Africa. The most common aetiological diagnosis is 46 XY DSD in androgen synthesis and action, followed by ovotesticular DSD. CAH is only the third most common disorder.

The gonads of 111 South African patients with ovotesticular disorder of sex differentiation.

PURPOSE: The aims of this study were to describe the gonadal tissue found in the Southern African true hermaphrodite and establish if there was a correlation between the clinical and histopathologic findings and if these findings were similar to patients with this condition elsewhere. MATERIALS AND METHODS: A retrospective study at the University of KwaZulu-Natal, Durban, South Africa, looked at all patients diagnosed with true hermaphroditism seen between 1984 and 2006. For this 23-year period, 111 consecutive true hermaphrodite patients were diagnosed on clinical findings, internal genital assessments, and the histologic examination of 217 gonadal biopsy specimens. All gonadal tissue taken from these patients was sent for histopathologic evaluation. The results were correlated to the clinical and internal genital evaluations of the patients. RESULTS: Five patients only had a single gonad. Analysis of the gonadal biopsy specimens showed that there were 118 (54%) ovotestes together with 59 ovaries and 40 testes. The ovotestes were divisible on gross appearance into 11% bipolar and 89% mixed types. Histologically, the mixed-type ovotestes have an outer mantle consisting of ovarian tissue, which encapsulated an inner core of 2 distinct types. The first is an admixed ovotestis (constituting 44% of the mixed ovotestes), the central core consisted of gonadal stroma, with scattered foci of separate ovarian and testicular tissue. The second type was the compartmentalized ovotestis (constituting 56% of the mixed ovotestes); here, the outer mantle was thickened in the upper pole and encapsulated a large core of testicular tissue in the lower pole of the gonad. The bipolar ovotestis had a strictly polar distribution of ovarian and testicular tissue, which had an irregularly interdigitating junction between the 2 types of tissue. Statistical analysis showed that no correlation could be found between the type of gonadal tissue and any of the clinical or genital features. CONCLUSION: Three distinct ovotesticular types are identified in the Southern African true hermaphrodite, which have not been described previously. The structure of these gonads has bearing on the type of biopsy done and the subsequent management of the ovotestes.

Overview of bladder exstrophy: a third world perspective.

INTRODUCTION: Bladder exstrophy is an uncommon condition, and the ramifications for patients living in a Third World environment are extensive. PATIENTS AND METHODS: This was a retrospective study of 57 patients, managed between 1983 and 2006. The review looked at the home environment, clinical findings, treatment provided, and short-term outcome. RESULTS: Of the 57 patients, 19 were born in metropolitan and 38 in rural hospitals. Twenty-four patients (42%) were referred on the first day of life, 21 (37%) within the first week, and 12 patients (21%) were older than 1 week of life. Associated congenital anomalies were seen in 18 patients (32%). Twelve patients died in hospital, the remaining 45 were discharged. Thirty three patients returned for review; their ages ranged from 2 to 17 years (median, 3 years). The overall mortality was 42%. On follow-up, urinary incontinence was the main complaint, which greatly affected the child's schooling and social life. CONCLUSION: Bladder exstrophy is an uncommon condition. The associated congenital abnormalities together with the impoverished environment result in a poor prognosis. Antenatal screening, early referral, and establishing urinary continence are factors that will improve the outcome in children with this condition in a Third World environment.