Endocrine Abstracts

Introduction: Deficiency of 11-beta hydroxylase (11-HD) accounts for 5% of the causes of congenital adrenal hyperplasia (CAH), with an incidence of 1:100,000. The classic form phenotype consists in an excess of androgens and mineralocorticoids, which clinically translates into hypertension and hypokalaemia. In boys, there may be an increase in penis size, early adrenarche, increased growth velocity, and advancing bone age.

Clinical case: We present a case of a 31-year-old male diagnosed with HCS due to 11-beta-hydroxylase deficiency. At the age of 4, he presented with early penile development (penis 7 cm long) and pubarche, hypertension, with an increase in bone age of 6 years compared to chronological age. At diagnosis, he had an increase in 11-deoxycorticol, 17-hydroxyprogesterone (OHP), and androgens, with low cortisol. A Synacthen test was carried out highlighting the HCS (at 60 minutes cortisol 8.1 mg/dl). The genetic study confirmed the diagnosis, with a reference to his parents and 2 siblings as carriers. Medicated and symptomatically controlled with prednisolone and fludrocortisone. With a personal history of osteoporosis, generalized anxiety, social phobia, and nocturnal facial paresis followed in Rheumatology, Psychiatry, and Neurology, respectively. Medicated with calcium carbonate, D vitamin, and ibandronic acid. At the age of 23, he started manifesting symptoms of decreased libido, loss of appetite, adynamia, epigastralgia, diarrhea, and significant weight loss (14 kg, more than 10% of his weight). Blood tests showed a decrease in dihydroepiandrostenedione sulphate, free and total testosterone. Also, a decreased follicle-stimulating hormone and luteinizing hormone was noted, highlighting hypogonadotropic hypogonadism. Subclinical hypothyroidism was also diagnosed. An upper gastrointestinal endoscopy was performed due to his gastrointestinal complaints, with no alterations. Finally, a magnetic resonance imaging of the sella was also performed to exclude space-occupying lesions, without alterations, and a scrotal ultrasound scan, also normal. He started supplementation with levothyroxine and testosterone. Later, he was admitted to the psychiatry department for anorexia nervosa, indicating hypogonadotropic hypogonadism secondary to eating disorders.

Conclusions: This case highlights the complexity of the overlap between two extremely rare pathologies: HCS due to 11-HD deficiency and anorexia nervosa in men.