Clinical aspects and definitive management of 15 cases with true hermaphroditism

Abstract EN

Background : True hermaphroditism (TH) is a rare form of intersexuality describing individuals who have both unequivocal ovarian tissue and testicular elements regardless of their karyotypes.

It is usually diagnosed in the newborn period during the evaluation of ambiguous genitalia ; however, diagnosis can be delayed or even missed (TH) also posses some difficulty in management regarding appropriate sex of rearing, sexual function and fertility in adult life Objective : is the evaluation of the clinical presentation and management of 15 cases of (TH) diagnosed at the Diabetic Endocrine and Metabolic Pediatric Unit (DEMPU) till 2004, to highlight the criteria of this rare condition and emphasize the need for meticulous evaluation of any genital abnormality.

Subjects and Methods : 15 cases of(TH) diagnosed at DEMPU till 2004 based on the finding of histological evidence of testicular and ovarian tissues: seminiferous tubules and / or spermatozoids defining testicular tissue ; ovarian follicles and / or corpora albicantia defining ovarian tissue.

Evaluation of cases included : age at presentation, social sex, family history, general and genital examination with Prader and Tanner staging, hormonal analysis [basal and HCG stimulated testosterone and its precursors, estradiol and gonadotrophins (LH and FSH)], abdomino-pelvic sonography, karyotype, laparotomy / laparoscopy and gonadal biopsy.

Detection of SRY (the sex determining region of the Y chromosome) in peripheral lymphocytes by PCR amplification was done in 6/15 cases.

Patients were referred for psychiatric evaluation of masculinity / femininity index and gender identity in cases of sex reversal.

Results : True hermaphroditism represents 7.

4 % of all intersex disoders at DEMPU.

Ten presented with genital ambiguity, 2 with gynecomastia and delayed puberty, and one with urine retention.

Two presented typel diabetes.

All patients had some degree of genual ambiguity, bilateral impalpable gonads or gonadal asymmetry.

Most of the cases presented late after establishment of social sex, and were reared as males.

Only 3 came before establishment of social sex, but only one case had sex reversal to female sex.

Ovotestis was the commonest gonad found, followed by the testis then the ovary Nature of gonad wasn V related to its site.

Most frequent karyotype was 46XX, and testis wasn't always associated with Y chromosome or SRY.

Definitive surgical management ™ mostly hysterectomy ; g^nadectomy of ovotesies, correction of hypospadias with uretheroplasty, and hormonal therapy in pubertal cases.

Conclusion: True hermaphroditism represents 7.4% of all intersex disorders at DEMPU.

Most of the cases present late after establishment of social sex, and are reared as males.

The most frequently encountered gonad is the ovotestis, and the most frequent karyotype is 46 XX.

The presence of a testis is not necessarily associated with a Y chromosome or SRY.

TH should be considered in males presenting with asymmetry of gonads, gynaecomastia, or delayed puberty associated with any degree of genital abnormality.