Endocrine Abstracts

A 29 year old gentleman presented to Urology with scrotal pain. He had renal calculi but examination also revealed small testicles for which he was referred to Endocrinology. He achieved normal developmental milestones. He had no history of mumps or testicular torsion or surgery. He had no history of hypospadias or undescended testicles. He was not on any regular medication and denied anabolic steroids use. He reported a normal sense of smell. His body weight was 72 Kg with height 1.75 m and BMI 23.5. Blood pressure was normal. He had full male secondary sexual characteristics with stage IV Tanner pubic hair and normal external genitalia. Testicular volume was 3-4 ml bilaterally. There was no evidence of gynaecomastia. He scored 1/10 on ADAM questionnaire. Blood results showed raised LH (16 IU/l~ reference range: 0.6-1.2) and FSH (43 IU/l ~ reference range: 1-12.1) with low Testosterone (8.8 nmol/l~ reference range: 7.0-27.0) and normal SHBG at 34 nmol/l (reference range:13.5-71.4). Prolactin was 161 mU/l (reference range 73-407) and oestradiol was 118 (reference range : 40-162). Thyroid function was normal. Semen analysis revealed azoospermia. His Haemoglobin, liver and renal functions were normal. Interestingly Karyotype analysis revealed SRY positive,46 XX Testicular disorder of sexual development (DSD). After appropriate counselling, he was offered Testosterone gel replacement and referred to a Clinical Geneticist. SRY positive 46 XX testicular DSD is seen with frequency of 1: 20,000 in male population and usually arises from paternal meiotic recombination event leading to translocation. The presence of SRY gene and absence of major regions of Y chromosome still leads to the expectance of completely masculinised phenotype. Patients often only present in adulthood with infertility but may also exhibit hypogonadism or gynaecomastia. This case highlights the role of karyotyping in patients with primary hypogonadism and azoospermia.