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The descent of the testis: the ascent of man (#3)

James Nolan 1 , Bronwyn Stuckey 1 2 3 , David Hurley 3 4 , Graeme Martin 5
  1. Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Perth , WA, Australia
  2. Keogh Institute for Medical Research, Perth, WA, Australia
  3. School of Medicine, University of Western Australia, Perth, WA, Australia
  4. Department of Endocrinology and Diabetes, Royal Perth Hospital , Perth, WA, Australia
  5. School of Agriculture and Environment, University of Western Australia, Perth, WA , Australia

Mr CJ was referred to the Keogh Institute for fertility treatment at the age of 33. He had bilateral cryptorchidism at birth. This had been treated in infancy with a 2-month course of pulsed GnRH delivered subcutaneously via a programmed pump, developed in a research protocol. At 2 years of age he had a right sided orchidopexy. At the age of 14 years he required induction of puberty with intramuscular testosterone esters (Sustanon). Biochemistry revealed a subnormal testosterone, undetectable LH and FSH. He had anosmia and mirror movements on examination.

He was 193 cm tall and weighed 100.4 kg. He was clinically euthyroid. He was well androgenised, without gynaecomastia. The penis and scrotum were normal. A small left testis was palpable at the external inguinal ring. The right testis was located in the scrotum and 6 ml in volume. Semen volume was 1.1 ml with azoospermia. Testosterone (on treatment) was 12 nmol/L (10-35) and LH and FSH were undetectable.

Testosterone was ceased and he was treated with regimen of hCG (Pregnyl, Organon Pharma Pty Ltd) 1500 units 3 times weekly and recombinant FSH (Gonal-F, Merck Healthcare Pty Ltd) 150 units 3 times weekly, delivered subcutaneously by self-injection. The patient was counselled at the outset that induction of spermatogenesis was a “long project” and that the time course for the appearance of one sperm in the ejaculate was prolonged (around 15 months from the literature and our own experience) and fertility might require IVF. Gonadotrophin therapy resulted in an unexpectedly robust response compared to that of other patients with the same condition undergoing fertility treatment. What is the likely underlying diagnosis? Should patients with cryptorchidism be screened for hypogonadism? What do you think pulsed GnRH achieved? What is the postulated mechanism behind his rapid spermatogenic success?

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