Endocrine Abstracts

A 23 year-old male was assessed for recommencement of growth hormone replacement therapy. He had discontinued treatment a year ago but not experienced any adverse symptoms since.

The patient had been born with multiple congenital malformations. Midline defects included oesophageal atresia, imperforate anus and partial sacral agenesis. Urogenital abnormalities required a left nephro-ureterectomy soon after birth and an orchidopexy was performed at the age of 8 years. A ventricular septal defect, which was associated with aortic incompetence, was closed 6 years later.

Both parents were healthy and non-consanguineous. Growth hormone deficiency had been diagnosed in late childhood during evaluation for growth impairment and replacement therapy commenced at the age of 12. Primary hypogonadism was established two years later and testosterone treatment initiated. Both drugs were discontinued in 2005 at another hospital to allow formal endocrine re-evaluation.

The patient’s height was 154 cm, his arm span 158 cm and he weighed 41 kg. Blood pressure was normal, his pubertal development at Tanner stage 3 and he had 4 mL atrophic testes. The karyotype was confirmed as 46, XY. The IGF-1 level was 17.8 (25–69 nmol/l), testosterone 1.3 (10–28 nmol/l), LH 65 (1–9 IU/l), FSH 87 (1–10 IU/l), and PRL 345 (86–324 mU/l). Thyroid and renal function was normal, as were the electrolytes.

Stratton and Parker in 1989 first described the combination of growth hormone deficiency with imperforate anus and complex cardiac, urogenital and skeletal defects. Only three further patients have been reported since. All cases to date were male and occurred sporadically, which raises the possibility of an X-linked recessive mode of inheritance. The patient described may represent another case of Stratton-Parker syndrome.