Endocrine Abstracts

Disorders of sex development create medical and social dilemma. Maleness with XX genotype is a rare genetic condition affecting one in 24,000 new-born males. Characterized by a spectrum of clinical presentation, ranging from normal male genitalia to ambiguous sex.

Case report: A 31 years old patient with ambiguous genitalia raised as a male. He came to our endocrinology clinic to stabilize his male identity by surgical correction, no parental consanguinity. The patient has five brothers. Two of them were born with sexual ambiguity and both died at the age of 6 months due to asthenia, weakness and, failure to thrive. His medical suffering started since birth when his mother discovered that he was born with an empty scrotum. He underwent a surgery for undescended testes at the age of 2. The surgeon didn’t find the testes, but when the ultrasonography was done, it revealed the presence of a uterus. He had his adrenarche at the age of 12 (well developed axillary, pubic and chest hair). His male type of boldness at the age of 17. Physical examination showed Height: 162 cm, Weight: 63 kg, BMI: 24.0 kg/m². He possessed coarse hair all over his body including auxiliary, pubic and chest area. Genital examination revealed Microphalus (enlarged clitoris: size is 7 cm) with penoscrotal hypospadias empty Scrotum. The results of laboratory analyses were as follows: follicle-stimulating hormone: 4.6 mIU/ml (N:0.7–11.1), luteinizing hormone: 3 mIU/mL (N: 0.8–7.6), and testosterone: 2.2 ng/mL (N: 2.5–8.4 mg/mL). Estradiol (E2): 24.2 pg/ml (N:15–56), Serum DHEA: 7.1 ng/ml (M&F 0.2–9.8). Androstenedione: >10 ng/ml (N:0.75–2.05), 17 hydroxyprogesterone: >4000 ng/dl (N: <77 ng/dl) Serum sodium: 144.0 mmol/L (N:132.0–145.0),Serum potassium: 3.6 mmo/L (N:3.5–5.1). karyotype analysis showed 46,XX. Abdominal pelvic U/S non visualized testis, Both ovaries are seen functioning with follicles noted, The uterus seen with endometrial line. Bulky right supra renal gland, MRI abdomen revealed Both suprarenal glands are diffusely enlarged: eliciting intermediate T1 and T2 signal intensity with no focal lesions. Classic congenital adrenal hyperplasia (21-hydroxylase deficiency) was diagnosed, the patient received a one month course of 15 mg hostacortin however he refused to continue treatment.

Conclusion: 21-hydroxylase deficiency should be considered in the differential diagnosis of cases presented with ambiguous genitalia in early childhood, treatment decision must be made for each individual. Considering social, psychosexual development, psychological and cultural factors.