Living Reference Work Entry

Handbook of Gynecology

pp 1-15

Date: Latest Version

Congenital Adrenal Hyperplasia in the Adolescent

  • Mimi S. KimAffiliated withCenter for Endocrinology, Diabetes and Metabolism, Children’s Hospital Los Angeles, University of Southern California Email author 
  • , Teresa TsengAffiliated withCenter for Endocrinology, Diabetes and Metabolism, Children’s Hospital Los Angeles, University of Southern California
  • , Christina M. KoppinAffiliated withCenter for Endocrinology, Diabetes and Metabolism, Children’s Hospital Los Angeles, University of Southern California
  • , Mitchell E. GeffnerAffiliated withCenter for Endocrinology, Diabetes and Metabolism, Children’s Hospital Los Angeles, University of Southern California

Abstract

Congenital adrenal hyperplasia (CAH) is a primary adrenal insufficiency and an autosomal recessive disorder that ranges in clinical severity from a classical, severe salt-wasting form to a mild, nonclassical form. In all patients, CAH involves adrenal hormone deficiencies and androgen excess. Females with CAH can have hyperandrogenism symptoms. Classical CAH presents in the newborn period with ambiguous genitalia in females and can be detected early in males with newborn screening. Clitoroplasty and vaginoplasty are surgical procedures that can correct ambiguous genitalia in females with CAH. Nonclassical CAH has a broader spectrum of clinical presentations, including premature pubarche, menstrual irregularities, and infertility. Glucocorticoid replacement therapy remains the mainstay of treatment, with the use of mineralocorticoid replacement in some classical patients and antiandrogen therapies in select female patients. Medication dosages, hormone levels, growth, and puberty need to be carefully monitored during childhood and adolescence, and hypercortisolism should be avoided in order to optimize final adult height and reduce potential morbidity. Long-term considerations of cardiovascular disease risk, bone mineral density, and fertility in adults remain under investigation.

Keywords

Congenital adrenal hyperplasia Adrenal insufficiency Cortisol deficiency Cardiovascular risk CAH NCAH Adolescent Hyperandrogenism 21-Hydroxylase deficiency Childhood