ABSTRACT
We report a case of a 16 years old girl who presented sequentially with primary amenorrhoea, hypertension and hypokalaemia. Eight years later, she was finally diagnosed with 17alpha-hydroxylase deficiency congenital adrenal hyperplasia. Previous antihypertensive medications were stopped. Hydrocortisone alone successfully maintained normotension and normokalaemia.
Subject(s)
Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/etiology , Diagnosis, Differential , Hypertension/etiology , Hypogonadism/etiology , Hypokalemia/etiology , Steroid Hydroxylases/deficiencyABSTRACT
Congenital adrenal hyperplasia is a disorder occurring in both sexes and is the commonest cause of ambiguous genitalia. It is a group of autosomal recessive disorders in which, on the basis of an enzyme defect the bulk of steroid hormone production by adrenal cortex shifts from corticosteroids to androgens. Autosomal recessive mutations in the CYP21, CYP17, CYP11B1 and 3betaHSD genes that encode steroidogenic enzymes, in addition to mutations in the gene encoding the intracellular cholesterol transport protein steroidogenic acute regulatory protein StAR can cause CAH. Each of the defects causes different biochemical consequences and clinical features. Deficiencies in 21 hydroxylase (21-OH) and 11beta-Hydroxylase (11beta-OH) are the two most frequent causes of CAH. All the biochemical defects impair cortisol secretion, resulting into compensatory hypersecretion of ACTH and consequent hyperplasia of the adrenal cortex. Research in recent years has clarified clinical, biochemical and genetic problems in diagnosis and treatment of the disorders. Expanding knowledge of the gene mutations associated with each of these disorders is providing valuable diagnostic tools in addition to the biochemical profile and phenotype. Genotyping is useful in selecting instances to provide genetic counseling and to clarify ambiguous cases.
Subject(s)
Adrenal Hyperplasia, Congenital/enzymology , Humans , Mutation , Phosphoproteins/deficiency , Steroid Hydroxylases/deficiencySubject(s)
Cholesterol/metabolism , Chromosome Aberrations/genetics , Chromosome Disorders , Female , Genes, Recessive/genetics , Humans , Infant, Newborn , Male , Pregnancy , Disorders of Sex Development/enzymology , Sex Differentiation/physiology , Steroid Hydroxylases/deficiency , Testosterone/biosynthesisABSTRACT
Basal and post-ACTH levels of 17 alpha hydroxy-progesterone (17 OHP) were determined in 53 subjects with hirsutism. Late onset congenital adrenal hyperplasia (LOCAH) was detected in five (10.6%) on the basis of elevated basal and/or ACTH stimulated levels of 17 OHP. Of the five patients, two were considered to have a heterogygous state on account of a small rise in stimulated 17 alpha OHP. Screening tests for LOCAH are essential as the clinical diagnosis is not otherwise possible for this treatable and often familial disorder.