Endocrine Abstracts

Adrenal hypoplasia congenita (AHC) is a rare and potentially life-threatening disorder of adrenal gland development, resulting from deletion or mutation of the DAX-1 gene. DAX-1 is located on the short arm of the X chromosome, and mutations result in X-linked primary adrenal hypoplasia, hypogonadotropic hypogonadism, and azoospermia in men. During the neonatal period, male patients present with signs and symptoms often indistinguishable from those seen in salt-losing 21-hydroxylase deficiency and are frequently misdiagnosed with congenital adrenal hyperplasia (CAH). We present the case of a 45-year-old gentleman, referred for management of steroid and androgen replacement therapy after recently moving from South Africa to Ireland. His past medical history included congenital adrenal hyperplasia, diagnosed at birth, and primary hypothyroidism. He was treated with hydrocortisone 10 mg twice daily, fludrocortisone 0.1 mg once daily, intramuscular testosterone 200 mg twice per month (last dose 4 months previously) and levothyroxine 200 mg daily. His only brother died from an adrenal crisis age 4 years. He had no other family history of endocrinopathy and no biological children. On examination, he was tall and measured 2.02metres. Secondary sexual characteristics were normal (axillary and pubic hair Tanner stage 5); however, his testes were rudimentary. Biochemistry revealed hypogonadotropic hypogonadism, LH <0.3IU/l (1.2-8.6), FSH <1.2IU/l (1.3-19.3) and testosterone <1.39 nmol/l (6.07-27.10). Samples have been sent for DAX-1 genetic analysis. This case highlights the importance of critical assessment of biochemical and genetic studies in patients with adrenal insufficiency to determine the cause. Establishing the correct aetiology of adrenal insufficiency is vital for identifying potential associated comorbidities, inheritance, and optimal management.