ECE2013 Poster Presentations Clinical case reports – Pituitary/Adrenal (57 abstracts)
Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, most commonly caused by CYP21A2 mutations, and characterized by disturbed cortisol and androgen synthesis. Clinical manifestations of classical 21-hydroxylase deficiency are virilisation and salt-waisting syndrome in both sexes. Adrenal tumors may appear in untreated CAH patients, but very rarely following adequate long-term therapy.
Case report: The 17-years-old male patient was diagnosed with the salt-waisting form of CAH shortly after birth by biochemical (severe hyponatraemia 108 mEq/l and hyperkalaemia 7.8 mEq/l) and echographic findings (both adrenal glands almost 3 cm in diameter) after presenting two episodes of severe dehydration. He is under steroid replacement therapy since then. 21-Hydroxylase deficiency was confirmed by genetic testing in March 2011 (homozygote splice mutation in the 2nd intron). He has normal physical and mental development (in August 2012 weight 72.4 kg, height 172.2 cm, BMI 24.54 kg/m2). Blood pressure, natrium (136 mEq/l) and potassium levels (4.4 mEq/l) were normal under hydrocortisone 40 mg/day. Repeated DHEA-S level is normal (2010: 63.4 mg/dl, n: 20357; 2012: 90.9 mg/dl, n: 80560), whereas 17-OH-progesterone levels remained high (2010: >19.20 ng/ml, n: 0.22.3; 2012: 41.53 ng/ml, n: 0.52.1). On the yearly follow-up cortisol levels were low (2010: 2.58 μg/dl, n: 6.219.4; 2012: 0.95 μg/dl) but ACTH levels got gradually higher (in 2010: 115.7 pg/ml, n: 7.263.3; 2011: 706 pg/ml; 2012: 2000 pg/ml). In 2012 abdominal CT showed a 21×15 mm oval-shaped nodule, with solid density (43 HU) on the left adrenal gland, pituitary MRI was suggestive for a 3 mm microadenoma, and cortisolemia was high (1.083 nmol/l, n: 171536), besides high ACTH (452.2 pg/ml, n: 7.263.3) and 17-OH-progesterone (129 ng/ml, n: <1.39) level, that rose the suspicion of an ACTH-producing adenoma. The possible causes of these changes are discussed.
Conclusion: This case represents a very rare evolution of classical CAH that after 17 years of proper glucocorticoid therapy complicates with a left adrenal tumor and a pituitary microadenoma.