Endocrine Abstracts

Introduction: Congenital Adrenal Hyperplasia (CAH) results from enzymatic defects caused by autossomal recessive hereditary mutations characterized by deficient cortisol synthesis and, in most cases, increased androgen synthesis. 90–95% of the cases are originated by deficits in 21-hydroxylase and, in about 75% of the cases, there is evidence of mineralocorticoid deficiency.

Case report: A 37-year-old patient was referred to an Endocrinology department due to class III obesity and insulin resistance. He had assistance in another institution for leukocytoclastic vasculitis under therapy with prednisolone 20 mg once a day, with irregular compliance. The patient had history of precocious puberty with appearance of secondary sexual characters at an early age, short stature and familiar consanguinity. Additionally, he had history of infertility. At the age of 35, the patient performed nephrectomy and right adrenalectomy for suspected renal tumour formation. Histological study revealed ectopic adrenal cortical adenoma with 3 cm and a 3 cm adrenal myelolipoma in the right adrenal gland. In the physical examination at endocrinology department, the patient had cervical and axillary acanthosis; skin hyperpigmentation; centripetal obesity; retractable, small and hard testicles; small penis with little hairiness. Initial biochemical and hormonal evaluation showed the following results: 17-OHP 57 ng/ml (0.6–3.4); renin 181 µU/ml (7–76); ACTH 1351 pg/ml (9–52), cortisol 1.7 µg/ml (5–25), Na+ 138 mEq/l e K+ 4.5 mEq/l, FSH 0.5 mUI/ml (<15); LH <0.1 mUI/ml (<9) and testosterone 0.7 ng/ml (2.7–11). These results were consistent with CAH and hypogonadotrophic hypogonadism. An abdominal CT was performed, identifying a 28 mm myelolipoma and two adenomas in the left adrenal gland. Additionally, a scrotal ultrasound revealed an 8 mm hypoechogenic nodular formation in the left testis. This finding, in association with a negative measurement of βhCG and α-fetoprotein, established the diagnosis of testicular adrenal rest tumor (TART). A genetic analysis confirmed the diagnosis of CAH with the identification of the variant g.655C>G of the CYP21A2 gene in homozygosity, with an enzymatic activity of 0–1%. The patient is monitored under hydrocortisone, fludrocortisone and testosterone replacement therapy.

Conclusion: The present case report illustrates the possibility of a late-diagnosed CAH in the context of bilateral adrenal incidentalomas and infertility. The patient developed chronic complications related to late diagnosis and undertreatment. The association of adrenal nodular lesions (mainly myelolipomas) and TART in undertreated CAH patients seems to be related with chronic hyperstimulation by elevated androgens and ACTH. Both fertility and adrenal glands could be preserved with early diagnosis and glucocorticoid treatment.