July - September 2015, Volume 11, Issue 3

Lichiardopol C

Cryptorchidism and Precocious Puberty in a Patient with Noonan Syndrome and 21-Hydroxylase Deficiency

Acta Endo (Buc) 2015, 11 (3): 356-362
doi: 10.4183/aeb.2015.356

Noonan syndrome is an autosomal dominant, variably expressed, developmental disorder with unilateral or bilateral cryptorchidism in up to 80% of boys and usually delayed puberty. Thus, precocious puberty is unexpected and intriguing in such a patient. A 4.6 year old boy was found to have pubic hair, penile enlargement, increased height velocity, with advanced bone age, bilateral cryptorchidism, dysmorphic facial features typical for Noonan syndrome, pectus deformity, brachydactyly, clinodactyly, camptodactyly, hyperpigmentation, acne and hypertrichosis. Hormonal assessment revealed 21-hydroxylase deficiency - more than 100 fold increase of 17 hydroxyprogesterone level, normal hCG, estradiol, FSH, LH. This previously unreported association of Noonan syndrome and congenital adrenal hyperplasia is challenging regarding diagnosis and management.

Keywords: Noonan syndrome, cryptorchidism, congenital adrenal hyperplasia, precocious puberty.

Correspondence: Corina Lichiardopol MD, University of Medicine and Pharmacy, Endocrinology, 4-6 Petru Rares, Craiova, 200349, Romania, E-mail: corinalich@gmail.com