Endocrine Abstracts

We present the case history of a 48-year-old man with anxiety and depression, who was referred for evaluation of absent libido, long standing erectile dysfunction and reduced body hair. There was no history of orchitis, pituitary problems or low impact fractures. He was always single and did not father children. Clinical examination revealed obesity (BMI 31 kg/m2), absent facial hair, reduced body, axillary and pubic hair. There was bilateral gynaecomastia. The phallus was normal, but the testes were not palpable. He appeared euthyroid and did not have features of cortisol or growth hormone excess. Visual fields were normal to confrontation. He was not diagnosed to have any congenital malformations but had an atrophic right kidney on a routine ultrasound scan of the abdomen. Biochemical profile revealed undetectable testosterone <1.5 nmol/l (nr 10 -28) and raised FSH 49.8 u/l (1.0 – 12) and LH 20.9 u/l (2.0 – 9.0) consistent with primary hypogonadism. Oestradiol, alpha-fetoprotein, beta HCG, prolactin, IGF1 and thyroid function tests were normal. Ultrasound scrotum revealed small testes in the lower inguinal canal. Karyotyping revealed 46XX disorder of sexual differentiation (DSD), SRY positive. Testosterone supplementation was initiated. He was referred to the urologist for orchidectomy given risk of malignant transformation in the undescended testis. He was also referred for genetic counselling and clinical psychologist. Patient chose to remain on testosterone and requested testicular implants. DEXA bone mineral density scan revealed osteoporosis.

Discussion: 46XX DSD is a rare disorder occurring in about 1:20,000 males. These patients commonly present in adulthood with infertility and have various phenotypical presentations, ranging from severe impairment of external genitalia to cryptorchidism to a normal male phenotype. Our case history highlights the importance of external genitalia examination in those presenting with hypogonadism. Further karyotyping is important in the evaluation of such patients, especially in those with phenotypical abnormalities.