Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that is caused by mutations of genes involved with adrenal steroidogenesis. The mutations mostly occur in the 21-hydroxylase gene and rarely in the 3β-hydroxysteroid dehydrogenase gene or 11β-hydroxylase genes. Our aim is to present a series of 3 cases of patients with late onset CAH, probably due to 21-hydroxylase deficiency, after 50 years of age.

Case series: Patient 1 - The first patient was initially diagnosed with a 6.4/4.5 cm right adrenal adenoma and left micronodular adrenal hyperplasia. He underwent right adrenalectomy due to the large size of right adrenal adenoma. After surgery the lab tests showed: low serum cortisol; ACTH=2000 pg/ml (3-66); very high LH, FSH and progesterone; normal DHEAs; testosterone=3.06 ng/ml (1.75-7.81); basal 17-hydroxyprogesterone=254 ng/ml; 17-hydroxyprogesterone 1h after administration of ACTH=1154 ng/ml. After the diagnosis was established, the patient was treated with Prednisone and Fludrocortisone. Patient 2 - The patient was diagnosed with hypospadias at the age of 3 for which he underwent multiple surgeries, which has only recently been corrected. He presented to our department after having a pelvis MRI which detected the presence of a hypoplastic uterus, vagina (opening to the urethra), ovaries and a hypoplastic prostate. The abdominal CT showed right macronodular adrenal hyperplasia and left micronodular adrenal hyperplasia. He had very high LH, FSH and progesterone; normal DHEAs; testosterone=1.71 ng/ml (1.75-7.81); basal 17-hydroxyprogesterone=720 ng/ml; 17-hydroxyprogesterone 1h after administration of ACTH=1320 ng/ml. Unlike the first patient the lab tests showed minimal adrenal insufficiency, therefore this patient did not require glucocorticoid and mineralocorticoid replacement. Patient 3 - This patient presented hypospadias in the first years of life similar the second patient. He had bilateral macronodular adrenal hyperplasia with minimal adrenal insufficiency; high progesterone; basal basal 17-hydroxyprogesterone=36 ng/ml; 17-hydroxyprogesterone 1h after administration of ACTH=1002 ng/ml; testosterone=1.52 ng/ml (1.75-7.81). The mean age at diagnosis for these patients was 53.3 years. The karyotype of these patients was 46XX. On clinical examination all three patients had missing testicles in the scrotum and hypoplastic penis.

Conclusion: Although CAH is a very rare condition, the clinical signs and lab tests leading to the diagnosis of these three patients were different and polymorphic. The diagnosis after the fifth decade of life of these 46 XX patients with congenital adrenal hyperplasia has numerous psychosocial implications, as they have a male gender identity.