A Descriptive Study on Children with Congenital Adrenal Hyperplasia Attending Assiut University Children Hospital

Introduction: Congenital adrenal hyperplasia is a group of autosomal recessive disorders that result from the deficiency of one of several enzymes involved in the steroidogenic pathway for cortisol biosynthesis. The most common cause of CAH, accounting for 90% of cases, is 21- hydroxylase deficiency resulting from mutations or deletions in the CYP21A gene [1]. Less common causes of CAH are deficiencies in the enzymes 11β-hydroxylase, 3β- hydroxysteroid dehydrogenase, 17α-hydroxylase, steroidogenic acute regulatory protein, cholesterol sidechain cleavage enzyme and P450-oxidoreductase [2]. The symptoms of disease vary depending on the nature and severity of the enzyme deficiency as well as the sex of the individual. Approximately 75% of infants with classical CAH have the severe salt-wasting form of the disease with shock, dehydration, hyponatremia, and hyperkalemia leading to death [3]. Affected females have varying degrees of virilization of the external genitalia. The remaining 25% have the simple virilizing form of disease which is less severe. Non-classical CAH is generally late onset with symptoms such as hirsutism, infertility, acne and alopecia arising from androgen excess [4]. Untreated babies with classic CAH could experience a life threatening adrenal crisis. However, treatment in the form of replacement hormone therapy (hydrocortisone or dexamethasone to replace cortisol and fludrocortisone to replace aldosterone) corrects the hormone deficiencies [3]. Life-long medication is required to prevent the return of symptoms in individuals with classic CAH. In addition, newborns with ambiguous genitalia in CAH should undergo an appropriate work-up by a medical team consisting of a pediatric endocrinologist, urologist, surgeon, geneticist, and psychologist who should assist parents in making fully informed decisions regarding gender assignment and treatment options such as genital reconstructive surgery [5]. Patients and methods: A descriptive study included children from 1 day to 18 years of age with congenital adrenal hyperplasia attending Assiut University Children Hospital over one year in the period from the 1st of June, 2016 to the 30th of May, 2017. Full thorough history and clinical examination were done to all cases: name, age, sex, residence, consanguinity, history of similar cases in the family, history of previous death due to neglected similar disease, methods of presentation as poor weight gain, poor feeding, persistent vomiting, dehydration and/or shock, convulsions, weight, height, blood pressure, signs of ambiguous genitalia, signs of dehydration, hyperpigmentation and signs of precocious puberty. All cases had been subjected to the following investigations: blood sugar, Na+, K+, blood gases, kidney function tests, karyotyping, hormonal analysis(17 OH progesterone, cortisol a.m and p.m testosterone, ACTH), pelvi-abdominal ultrasonography and magnetic resonanse imaging of the abdomen and pelvis. Results: 34 cases of congenital adrenal hyperplasia were included, of whom 8 cases were newly diagnosed on admission while 26 cases were previously diagnosed and came for follow up, 41.2% were males, 58.8% were females.