ESPE Abstracts

Background: A 3.6-year-old Caucasian male presented with rapid onset of deep voice, facial hair, Tanner stage 2 testes, Tanner stage 3 pubic hair, penile length 9.5 cm, growth velocity (GV) 13.1 cm/year, and bone age 7 years. Evaluation was consistent with central precocious puberty and ruled out other pathology. Standard weight-based gonadotropin-releasing hormone agonist (GnRHa) therapy was initiated. GV increased to 16.6 cm/year, puberty advanced further, and bone age was 1...

Background: The children had normal 21-hydroxylase screening. An atypical form of congenital adrenal hyperplasia was initially suspected. The first child (female) had hyponatremia, hyperkalemia, elevated ACTH, and elevated androgens at birth. The second child (male) presented at 16 days with hyponatremia, hyperkalemia, normal cortisol, very elevated renin, low aldosterone, and elevated deoxycortisol. The third (female) and fourth (male) siblings had similar electrolyte abnorma...