A case report of Non-Classical Congenital Adrenal Hyperplasia of 2 year old male child

Abstract

Non-Classical Congenital Adrenal Hyperplasia (NCCAH) is a relatively common autosomal recessive disorder characterized by partial deficiency of 21-hydroxylase enzyme, resulting in excessive adrenal androgen production. This case report presents a rare early onset manifestation of NCCAH in a 2 year old male child who was brought to endocrinology emergency department with premature pubic hair development and increased penil length. Laboratory investigations disclose elevated levels of luteinizing hormone, ACTH, 17-hydroxyprogesterone, progesterone, and testosterone, while other hormonal and imaging studies were within normal range. Based on clinical features and biochemical findings, a diagnosis of NCCAH was made. Hormonal therapy with oral hydrocortisone was initiated, which led to partial improvement in androgen levels over a 3 month follow up. The patient history included high risk of supported pregnancy with growth injections and prior miscarriage. This case highlight need for early recognition of atypical presentation of NCCAH to prevent complications such as precocious puberty, compromised adult height, and fertility issues by timely therapeutic interventions.