Congenital Adrenal Hyperplasia (CAH) Diagnosis and Management

Clinical Recognition and Diagnosis

• A phenotypic male newborn with bilateral nonpalpable testes is potentially a genetic female (46,XX) with congenital adrenal hyperplasia until proven otherwise, requiring immediate specialist consultation 1, 2
• Lethargy and low activity in a newborn indicate adrenal crisis with cortisol and aldosterone deficiency 1
• Bilateral nonpalpable testes with normal-length phallus in a phenotypic male newborn is a classic presentation of virilized 46,XX infant with CAH 1, 2
• The constellation of findings pointing to a disorder of sex development, including hyperpigmentation and bilateral nonpalpable gonads, is specific to CAH 1, 2

Immediate Management and Treatment

• Failure to diagnose congenital adrenal hyperplasia can result in serious harm, as a high proportion of patients with this condition are unable to regulate their electrolyte levels and may present with shock, hyponatremia, and hyperkalemia 1, 2
• Immediate specialist consultation (pediatric endocrinology) is necessary for newborns with suspected CAH 1, 2
• The American Urological Association (AUA) guidelines recommend that newborns with bilateral nonpalpable testes should not be circumcised until after evaluation for disorder of sex development is complete 1