Endocrine Abstracts

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency.

Introduction: Congenital adrenal hyperplasia is a heterogenic group of disorders. Shared feature is a deficiency of one of the enzymes which are necessary for steroid synthesis. Due to wide clinical spectrum and rarity of the disease diagnosis can be challenging. Hereby we present the case of the patient, who after prolonged period of time was finally diagnosed with 3-beta-hydroxysteroid dehydrogenase deficiency.

Case report: 23-year old patient was admitted to endocrinology clinic due to hypogonadal hypogonadism. Pubic and axillary hair developed after unknown treatment commenced by urologist at the age of 11. Due to the lack of other signs and symptoms of puberty 17-year old patient was referred to endocrinology outpatient clinic. The diagnosis was not established. Patient did not continue diagnostic process. At the age of 23, he underwent appendectomy. Surgeon noticed typical features characteristic for hypogonadism and ordered endocrinologist consultation. Hypogonadal hypogonadism was diagnosed. Semen analysis results were within the norm. On physical examination performed during admission to hospital female-type fat distribution and pubic hair pattern was noticed. On ultrasonography size of testes was normal. CT of the adrenal glands revealed thickening of medial crus of left adrenal gland. Both LH, FSH and testosterone were decreased. On simulation test with GnRH, LH raised 12-times, while FSH 2-times. DHEAs and androstenedione were markedly elevated. Bone densitometry revealed osteoporosis. Urine steroid profile analysis was performed. It showed elevated levels of: delta 5 steroids, especially pregnentriol. On the basis of laboratory and clinical findings 3-beta-hydroxysteroid dehydrogenase deficiency was diagnosed. Treatment with dexamethasone 1 mg daily and testosterone 1 injection per 3 weeks im was commenced. We noticed normalization of hormonal profile. Patient developed male secondary sex characteristics.

Conclusions: Diagnosis of non-classic form of congenital adrenal hyperplasia is challenging. In presented case proper treatment was vital to induce puberty, improve sexual function and quality of life.