Dr Kola Tytler MBBS CertHE MBA MRCGPClinical Lead • iatroX
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 NICE NG243 Demirci & 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 NICE NG243 Witchel & 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 NICE NG243 Sharma & Seth 2014.
- Hyperpigmentation: Increased ACTH stimulation can cause generalized skin darkening, which may be subtle but is a useful clinical clue NICE NG243 Demirci & Witchel 2008.
- Family history: A history of CAH or unexplained neonatal deaths may raise suspicion and prompt early investigation NICE NG243 Witchel & Azziz 2011.
- Biochemical abnormalities: Elevated 17-hydroxyprogesterone levels are diagnostic, but clinical suspicion should guide testing in symptomatic children NICE NG243 Sharma & 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 NICE NG243 Demirci & Witchel 2008Witchel & Azziz 2011Sharma & Seth 2014.
Key References
- NG243 - Adrenal insufficiency: identification and management
- CKS - Addison's disease
- CKS - Polycystic ovary syndrome
- (Demirci and Witchel, 2008): Congenital adrenal hyperplasia.
- (Witchel and Azziz, 2011): Congenital adrenal hyperplasia.
- (Sharma and Seth, 2014): Congenital adrenal hyperplasia: issues in diagnosis and treatment in children.