Ambiguous Genitalia A normal genital examination in newborn girls includes a fully opening vagina (without posterior labial fusion), clitoris width of to mm, and absence of gonads in the labia majora or inguinal region In boys, the urethral opening should be at the tip of the glans, with a stretched penile length of 2.5 to cm, and bilateral testes in the scrotal sacs Patients with male-appearing genitalia but micropenis, moderate to severe hypospadias or bilateral cryptorchidism, or patient with female-appearing genitalia but posterior labial fusion, clitoromegaly, or a labial/inguinal mass, require further evaluation for an intersex disorder Diagnostic evaluation includes peripheral blood karyotype, serum testosterone and 17-OH progesterone levels, and pelvic US The most immediate concern is when ambiguous genitalia results from CAH Typically, adrenal insufficiency will present between and 21 days Females with CAH are more easily recognized by abnormal masculinization of the external genitalia Early signs of adrenal insufficiency may include lethargy, decrease oral intake, increased emesis, failure to thrive, and weight loss In severe cases, patients will present with obtundation, hypotension, gray appearance, cardiac arrhythmias (due to hyperkalemia), or seizures (due to hyponatremia or hypoglycemia) For patients with suspected CAH, serum electrolytes and glucose should be checked, and any abnormalities corrected, and cortisol replacement should be instituted In the salt-wasting form of CAH, patients may also require mineralocorticoid replacement and salt supplementation NEONATAL NEUROLOGIC EMERGENCIES Goals of Treatment Neurologic findings in neonates are subtle Seizures are easily missed Irritability or lethargy may be the only signs of systemic infection The goals of treatment are to recognize these subtle findings and to aggressively treat underlying causes, such as hypoglycemia, hyponatremia, and infections RELATED CHAPTERS Signs and Symptoms Apnea: Chapter 14 Medical, Surgical, and Trauma Emergencies Neurologic Emergencies: Chapter 97