Therapeutic Challenge of Preserving Adult Height in a Patient with Langer Mesomelic Dysplasia and Non-Classic Congenital Adrenal Hyperplasia: A Case Report Pages 45-49

Anna S. Nam1, Judith Ross2 and Bert Bachrach1

1University of Missouri Children’s Hospital, Columbia, MO; 2Thomas Jefferson University, Philadelphia, PA, USA


Abstract: Congenital adrenal hyperplasia (CAH), including the non-classic subtype (NCCAH), predisposes patients to adult height (AH) deficit. The effects of glucocorticoid treatment for asymptomatic NCCAH patients on growth remains inconclusive. There is no discussion in the literature on steroid treatment to optimize height in an NCCAH patient predisposed to severe AH deficit due to another condition e.g. Langer mesomelic dysplasia (LMD) caused by the absence of functional SHOX (short stature homeobox) protein. We present a case of an 8 year old female diagnosed with LMD and NCCAH. Hydrocortisone therapy was administered with regular assessments of her height, serum 17OHP, and bone age to optimize adult height. Hydrocortisone dosage ranged from 5-19 mg/m2/day. Currently, TJ’s height is 97.7 cm (-6.5 SD) with a bone age of 10 years and growth velocity of 4.5 cm/year. This represents the first reported case of combined diagnoses of LMD and NCCAH. Treatment dilemmas surrounding glucocorticoid and growth hormone therapies for NCCAH in the context of severe short stature, specifically LMD, are discussed.

Keywords: Corticosteroid therapy, short stature, height deficit. Read more