Final Height in Patients With CAH

Overview

Congenital adrenal hyperplasia (CAH) is the most common inherited disorder in the adrenal gland in children. Growth is usually affected in CAH patients either due to the disease itself or treatment consequences.

CAH comprises a group of autosomal recessive disorders caused by a deficiency of one of five enzymes needed for the synthesis of cortisol leading to defect in cortisol synthesis with or without aldosterone deficiency and an increase in the production of adrenocorticotropic hormone through negative feedback. The most common form is 21-hydroxylase deficiency (21OHD), which forms more than 90 % of the cases. In classic CAH, 75% of the patients have the salt wasting (SW) and 25% have the non salt-wasting phenotype (NSW).There are no clinical signs at birth in male infants and in female patients, CAH is suspected shortly after birth if there is genital ambiguity, ranging from slight clitromegaly to complete masculinization with acceleration of growth and pubertal development. The non-classic (late onset) form of CAH is a less severe form of 21OHD, and is diagnosed later in life. Final height in early and late onset patients has been reported as diminished (Hauffa et al, 1997).This could be attributed to androgen excess or treatment with steroids. Androgen excess can occur at any age leading to accelerated growth, early epiphyseal closure and compromised final adult height. Despite that all forms of CAH differ in their degree of enzymatic deficiency, they all represent a therapeutic challenge to pediatric endocrinologists attempting to optimize growth.

Conditions

Eligibility

Outcomes

Central Contacts