Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum

Meredith Wasserman,Serife Uysal,Angela Ganan-Soto,Erin M Mulvihill,Jose Bernardo Quintos

doi:10.1155/2017/4271978

Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height.

Highlights

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders characterized by the inability to synthesize cortisol from cholesterol in the adrenal cortex. 21hydroxylase deficiency is the most common cause of CAH and results in excess androgen production due to shunting of intermediates in the steroidogenic pathway toward androgen synthesis
We report the case of a 20-year-old male with simplevirilizing CAH and Prader-Willi syndrome (PWS), who probably had both periods of undertreatment and overtreatment of glucocorticoids and lack of growth hormone treatment for PWS, resulting in a significantly short adult height
He displayed aggressive behavior after being treated with testosterone for hypogonadism associated with PWS

Summary

Introduction

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders characterized by the inability to synthesize cortisol from cholesterol in the adrenal cortex. 21hydroxylase deficiency is the most common cause of CAH and results in excess androgen production due to shunting of intermediates in the steroidogenic pathway toward androgen synthesis. Final adult height in patients with CAH is 1.38 SD lower than the population norm and their corrected height (final height minus genetic height potential) is 1.03 SD lower than their genetic height potential [1] This short stature is seen in CAH patients even in the presence of early glucocorticoid treatment to suppress excess androgen production. In the absence of growth hormone treatment and subsequent pubertal growth spurt, average adult height in male and female patients with PWS is 155 cm and 148 cm, respectively [7]. We report a patient with PWS and CAH who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height

Case Report

Discussion

Findings

Conflicts of Interest