What are the key clinical features to consider when diagnosing Congenital Adrenal Hyperplasia (CAH) in children?

Key clinical features to consider when diagnosing congenital adrenal hyperplasia (CAH) in children include:

• Ambiguous genitalia in newborn females: This is often the earliest and most noticeable sign, characterized by clitoromegaly, labial fusion, or other virilization features due to excess androgen exposure in utero ¹ (Demirci and Witchel, 2008).
• Salt-wasting crisis: In classic 21-hydroxylase deficiency, infants may present within the first few weeks of life with vomiting, dehydration, hyponatraemia, hyperkalaemia, and hypotension due to aldosterone deficiency ¹ (Witchel and Azziz, 2011).
• Precocious puberty or rapid growth: In non-classic or milder forms, children may show signs of early pubarche, accelerated growth velocity, or advanced bone age ¹ (Sharma and Seth, 2014).
• Hyperpigmentation: Increased ACTH stimulation can cause generalized skin darkening, which may be subtle but is a useful clinical clue ¹ (Demirci and Witchel, 2008).
• Family history: A history of CAH or unexplained neonatal deaths may raise suspicion and prompt early investigation ¹ (Witchel and Azziz, 2011).
• Biochemical abnormalities: Elevated 17-hydroxyprogesterone levels are diagnostic, but clinical suspicion should guide testing in symptomatic children ¹ (Sharma and Seth, 2014).

Overall, the diagnosis relies on recognizing a combination of clinical signs of androgen excess, salt-wasting symptoms, and biochemical confirmation, with early identification critical to prevent life-threatening adrenal crises ¹ (Demirci and Witchel, 2008; Witchel and Azziz, 2011; Sharma and Seth, 2014).