– by anomaly of the androgen receptor;
– or by isolated 5α-reductase deficiency.
We report the case of a patient aged 37, 2nd of 7 children and sibling from a consanguineous marriage, similar case in an unexplored brother, married for 2 years who consults for bilateral cryptorchidism and micropenis and a procretation desire. He was 182 cm,weighed 79 kg, BMI: 23.85 bilateral cryptorchidism, scrotal hyperpigmentation micropenis, erectile dysfunction, no ejaculation, total absence of axillary thoracic facial hair, pubic P2 level, bilateral gynecomastia. No dysmorphic syndrome or neurosensory disorders. Hormonal balance: testo: 57.2 nmol/L (10–41); 17 ng/L (3–10) high, DHT: 1.96 nmol/L N (1–13) FSH: 11.52 mu/L (1–8), LH: 7.91 ml/L (0.6–12), PRL: 7.1 ng/L (1–15). Pelvic echo (after orchidopexy): bilateral testicular hypotrophy still at the bottom inguinal (short cord according to the surgeon) viewed normal prostate volume. In front of the hormonal results, the diagnosis of androgen insensitivity was suspected which could be androgen receptor abnormality or is a 5-alpha reductase deficiency. To find out, a long HCG test was performed. The test results: ratio testo/DHT frankly over 20, in favor of a 5-alpha reductase deficiency.
Although 5-α-RD2 with ambiguous genitalia is relatively scarce and not frequently encountered in daily practice. In our community, the diagnosis is often delayed, compromised by the lack of diagnostic and therapeutic facilities, of trained surgeons and multidisciplinary management.