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Ambiguous Genitalia
A normal genital examination in newborn girls includes a fully opening vagina
(without posterior labial fusion), clitoris width of 2 to 6 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 5 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 3 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