Congenital adrenal hyperplasia, 21-hydroxylase deficiency: classical and non-classical forms

21- hydroxylase deficiency is by far the commonest type of congenital adrenal hyperplasia. Both classical and non-classical forms of 21-hydroxylase deficiency have been recently recognized. Sixteen cases with classical form of 21-hydroxylase deficiency, and 7 cases with non-classical form were included in the study. Patients with classical form had their age ranging from 0.1-10.6 yr [4.3 +/- 3.1], 14 cases had 46 xx chromosomal constitution [11 reared as girls, 3 reared as boys] and 2 cases had 46 xy chromosomal constitution and were reared as boys. One third of cases were of salt-wasting type, and the rest of simple virilizing type. Mean serum level of testosterone was 1.9 +/- 1.5 ng/ml [0.1-5], 17-hydroxyprogesterone 12.4 +/- 10.7 ng/ml [2-42], delta4-androstenedione 13.5 +/- 9.6 nglml [4-28] and dehydroepiandrosterone sulphate 139.4 +/- 108.7ug/dl [16.4-320]. The age of non-classical form patients ranged from 2-20 yr [10.6+7.1] 2 were boys and 5 girls. Basal values of serum testosterone, 17 hydroxyprogesterone, delta 4- androsienedion and dehydroepiandrosterone sulphate were high. Delineation of genetic sex and diagnosis of the underlying enzymatic defect are essential to prevent ambiguity in sex assignment in cases of congenital adrenal hyperplasia. Non-classical form of congenital adrenal hyperplasia is not a rare disease, may present at variable age with variable presentation

Anthropometric and endocrine studies in short children and adolescents

Short stature is a common pediatric complaint that entails a large number of investigations. Short stature was investigated in 189 children and adolescents, with age range of 0.2-17.2 [8.1 +/- 4.5] years, 121 were males and 68 females. Medical history, clinical examination, anthropometric studies, skeletal maturation, kidney function and thyroid profile were routine. Pituitary function was evaluated in patients fitting clinically with the diagnosis of GH deficiency. Karyotyping was also done in short females. Four major groups are recognized namely: familial short stature [20.6 percent], constitutional delay of growth and puberty [6.9 percent]. endocrine disorders [38.1 percent] and genetic syndromes [18 percent]. Ten patients proved to have primary hypothyroidism with minimal symptoms and signs. GH provocative tests revealed GH deficiency in 34 patients and non-GH deficiency in 28 patients. Idiopathic GH deficiency was responsible for three-fourths of cases, and craniopharyngiomas are the commonest intracranial neoplasms responsible for GH deficiency, GH deficiency children were significantly shorter compared to normal variants, but were not different from other groups. Further workup is needed for the group of children with non-GH deficiency to probe for the mechanism of short stature in such cases. Familial short stature= FSS, Constitutional delay of growth andpuberty = CDGP, Growth hormone = GH, Standard deviation score =SDS