Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2013) 31 P309 | DOI: 10.1530/endoabs.31.P309

SFEBES2013 Poster Presentations Pituitary (71 abstracts)

A case of persistent Mullerian duct syndrome

Una Graham , Emma McCracken & Karen Mullan


Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast, UK.


A 45-year-old man who works as a psychotherapist was referred with an incidental finding of a rudimentary uterus and bilateral pelvic gonads on pelvic computerized tomogram and magnetic resonance imaging. This was performed for investigation of abdominal pain which has since settled. As far as he is aware he was born without complications and developed normally through childhood. He progressed through puberty uneventfully with voice changes by 13 years and shaving by 16 years. He was investigated at 20 years for undescended testes confirmed on ultrasound. Surgical exploration of the abdomen revealed no testes and testicular implants were inserted at that time. He has one child with his wife through IVF with donated sperm. He reported good libido, no erectile dysfunction and regular shaving.

On examination he was phenotypically male. Morning biochemistry: testosterone low at 8.6 nmol/l (10.5–30), FSH 39 U/l (1.5–9), LH 12 U/l (1.5–8), oestradiol <50 pmol/l, androstenedione 9.3 nmol/l (3–15), dehydroepiandrosterone sulphate DHEAS 3.5 μmol/l (2–14.5), 17 hydroxyprogesterone 7.3 nmol/l (2–15) and prostate specific antigen 0.8 ng/ml (0–2.5). Karyotyping of 30 lymphocytes demonstrated 46 XY and the sex-determining region Y (SRY) gene was present. He had osteopaenia on bone density scanning. A diagnosis of persistent Mullerian duct syndrome was made. He was counselled, started on testosterone replacement and referred to urology for consideration of abdominal re-exploration. The limited literature currently available suggests that the intra abdominal testes have more malignant potential than the Mullerian structures in this syndrome.

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