Congenital Adrenal Hyperplasia

Overview

Congenital Adrenal Hyperplasia is a group of inherited genetic disorders that affect the adrenal glands causing a lack of one of the enzymes used to produce hormones that help regulate the metabolism, immune system and other functions

Signs and Symptoms

In females, enlarged clitoris or genitals that look more male than female, Very early appearance of pubic hair, Rapid growth during childhood but shorter than average final height, Irregular or absent menstrual periods, Severe acne, Masculine characteristics such as facial hair, excessive body hair and a deepening voice in females, Vomiting

Common Causes

Genetically inherited from the parents

Risk Factors

Parents who both have Congenital Adrenal Hyperplasia, Parents who carry the genetic defect for the disorder, People in certain ethnic groups such as : Ashkenazi Jews, Hispanics, Italians, Yugoslavians, Yupik Inuits

Investigation Techniques

Full blood count, Serum creatinine, Serum urea, Plasma renin activity, Blood glucose, Electrolytes, Serum 17-hydroxyprogesterone, Serum 11-deoxycortisol, Urinalysis, Corticotrophin stimulation test, Pelvic ultrasound, CT scan of the adrenals, Urogenitography , Bone age study, Karyotype, Genetic analysis, Microfilter paper radioimmunoassay for 17-hydroxyprogesterone

Treatment and Prevention

Keep hydrated, Avoid fasting, Ensure intake of carbohydrates and glucose increased during exercise or illness. , Carry medical emergency identification specifying congenital adrenal hyperplasia, Steroid replacement therapy, Oral contraceptive pill, Be aware of the symptoms of low blood glucose level