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Analytical Case Study on Early Diagnostic Markers and Hormonal Management in a Neonate with Classical Congenital Adrenal Hyperplasia (CAH)

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Title: Analytical Case Study on Early Diagnostic Markers and Hormonal Management in a Neonate with Classical Congenital Adrenal Hyperplasia (CAH)

Authors: Parvathy Sathees, Shanthi Ramesh, Ajay Dilip, Sreeya Sathees

Journal: Journal of Neonatal Surgery

HEC Recognition History
Category From To
Y 2023-07-01 2024-09-30
Y 2022-07-01 2023-06-30

Publisher: EL-MED-Pub Publishers

Country: Pakistan

Year: 2025

Volume: 14

Issue: 32S

Language: en

Keywords: Hormone Therapy

Categories
Diagnostic Markers (19) Hormonal Management (1) Congenital Adrenal Hyperplasia (4) Endocrinology (11489) Pediatrics (13616)

Abstract

Congenital adrenal hyperplasia (CAH), primarily due to 21-hydroxylase deficiency, can present at birth with ambiguous genitalia and adrenal insufficiency. We describe a term female neonate born via cesarean section who presented with ambiguous genitalia and was later diagnosed with classical CAH. Investigations revealed elevated 17-hydroxyprogesterone and low cortisol levels. Genetic analysis confirmed CYP21A2 mutation. Hormonal therapy with hydrocortisone and fludrocortisone was initiated early. Electrolyte imbalances were corrected. The child remained stable with regular follow-up and dosage adjustments. Early identification and initiation of hormone therapy in neonates with CAH is crucial to prevent adrenal crises and optimize long-term outcomes.

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