ESPE Abstracts

Introduction: Congenital Adrenal Hyperplasia (CAH) encompasses a spectrum of genetic disorders resulting from enzyme deficiencies that impair adrenal steroidogenesis. The most common forms are due to 21-hydroxylase and 11-beta-hydroxylase deficiencies, each presenting with distinct clinical and hormonal profiles.

Aim: This study aims to compare the clinical presentations and laboratory findings in Egyptian pediatric patients with CAH attending pediatric endocrine clinic in Alexandria University due to these two enzyme deficiencies to better understand the implications for patient management.

Methods: We retrospectively analyzed medical records of pediatric patients diagnosed with either 11-beta-hydroxylase (n = 18) or 21-hydroxylase deficient (n = 54) CAH. Data were collected on age at presentation, NICU admission, salt-losing crises, ambiguous genitalia, and signs of electrolyte imbalances. Hormonal evaluations included 17(OH) Progesterone, Testosterone, Cortisol, and ACTH levels.

Results: Patients with 21-hydroxylase deficiency had a higher incidence of NICU admissions (n = 29,96.7 %) anssxsxsd salt-losing crises (n = 39), with laboratory tests frequently showing hyponatremia and hyperkalemia. The 11-beta-hydroxylase deficiency group, while also exhibiting adrenal hyperplasia, had cases of hypokalemia unique to this enzyme defect. Elevated ACTH and altered sex steroid levels were common to both groups.

Discussion: The more severe salt-wasting and electrolyte disturbances in the 21-hydroxylase deficiency group are indicative of the significant loss of both cortisol and aldosterone synthesis. In contrast, the 11-beta-hydroxylase deficiency presents with mineralocorticoid excess, leading to distinct clinical challenges.

Conclusion: The comparison elucidates the differential impact of 21-hydroxylase and 11-beta-hydroxylase deficiencies on the clinical presentation and hormonal milieu in CAH patients. These findings highlight the importance of a tailored approach in the management of CAH, considering the specific enzymatic deficiency and its associated endocrine profile.