PRIMARY ADRENAL INSUFFICIENCY AND PRECOCIOUS PUBERTY IN A BOY 12 MONTHS OF AGE

Abstract

Case report: Child prematurely born after suspected placental insufficiency (low estriol output). 2 1/2 weeks of age diarrhoea and vomi ting. Increased pigmentation. Na 110 meq/1, K 8,5 meq/1. Treatment with DOCA and Hydrocortisone for suspected CAH-syndrome. Biochemical work-up: Urinary steroid analysis shows no evidence of any known adrenal enzyme deficiency. Salt losing syndrome with low cortisol and high ACTH-plasma-concentrations. No stimulation of plasma-cortisol after prolonged (3 weeks) ACTH-stitnulation. Urinary steroid output (gaschromatography): No increased excretion of any metabolite after prolonged ACTH-stimulation. Normal renin and low aldosterone-plasma-concentrations. Diagnosis: Congenital adrenal hypoplasia. At 12 months pubarche, increased penis-size, testes>2 ml. Bone age more than 4 SD advanced. Supine length crossing from P 25 over P 97: Height velocity well over P 97 for age. Plasma and urinary testosterone in the adult male range, non-suppressable with Dexamethason. A combined insulin-TRH LH-RH-stimulation reveals a complex hypothalamo-pituitary disorder. Hypothesis: Congenital adrenal hypoplasia with true precocious puberty due to congenital hypothalamic defect.