According to clinical practice guidelines, for newborns found to have bilateral inaccessible gonads, CAH evaluation should be considered. If virilizing CAH cannot be identified and treated, both boys and girls may undergo rapid postnatal growth and virilization. Nonclassic
In addition to the salt-wasting and simple-virilizing forms of CAH diagnosed in infancy,  a mild or "nonclassic" form exists, which is characterized by varying degrees of postnatal androgen excess, but is sometimes asymptomatic. The nonclassic form may be noticed in late childhood and may lead to accelerated growth, premature sexual maturation, acne, and secondary polycystic ovary syndrome. In adult males, early balding and infertility may suggest the diagnosis. The nonclassic form is characterized by mild subclinical impairment of cortisol synthesis; serum cortisol concentration is usually normal. Signs and symptoms
The symptoms of CAH vary depending upon the form of CAH and the sex of the patient. Symptoms can include:
Due to inadequate mineralocorticoids:
Vomiting due to salt-wasting, leading to dehydration and deathDue to excess androgens:

In extreme virilization, an elongated clitoris with a phallic-like structure is seen. Ambiguous genitalia, in some infants, occurs such that initially identifying  external genitalia as "male" or "female" is difficult. Early pubic hair and rapid growth occurs in childhood. Precocious puberty or failure of puberty to occur (sexual infantilism: absent or delayed puberty)
Excessive facial hair, virilization, and/or menstrual irregularity in adolescence
Infertility due to anovulation
Clitoromegaly, enlarged clitoris and shallow vaginaDue to insufficient androgens and estrogens:
Undervirilization in XY males can result in apparently female external genitalia.
Encephalocraniocutaneous lipomatosis (ECCL), is a rare condition primarily affecting the brain, eyes, and skin of the head and face. It is characterized by unilateral subcutaneous and intracranial lipomas, alopecia, unilateral porencephalic cysts, epibulbar choristoma and other ophthalmic abnormalities. It was named after Haberland and Perou who first described it. Signs and Symptoms
Eighty to ninety percent of those with encephalocraniocutaneous lipomatosis are  unable to produce and keep fat tissue and have multiple lipomas. Other types of growths, including jaw tumours, may also occur.Approximately two thirds of individuals with Encephalocraniocutaneous lipomatosis have intracranial and/or intraspinal lipomas. They also have an increased risk of developing a form of brain cancer known as a glioma. Other neurological issues that can occur include seizures, spasticity and variable intellectual disability. However, approximately one third of effected individuals have typical intelligence.The most common ocular abnormality in encephalocraniocutaneous lipomatosis is a form of benign growth called a choristoma which can occur in one or both eyes. These may effect vision. Other ocular symptoms include  abnormally small eyes, small pupils, iris hypoplasia, sclerocornea, hypertrophic conjunctivae, an absent macular reflex and anterior chamber anomalies. There may be eyelid colobomas and short or abnormal palpebral fissures. Skin tags often grow around the eyelids. Cause
History
This condition was first described in 1970. See also
Nevus psiloliparus

References


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