Congenital Adrenal Hyperplasia in Adults

摘要: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting steroid synthesis. More than 95% of CAH cases are caused by reduced 21hydroxylase function leading to variable extent cortisol and aldosterone deficiency in addition androgen excess. The foundation treatment the use glucocorticoids. However, overtreatment leads Cushing’s syndrome undertreatment hyperandrogenism Addisonian crisis. aims this thesis has been evaluate impact its on some factors that could lead a quality life increased morbidity or mortality during adult life. In total 93 patients (32 males) with ageand sex-matched controls were studied. Subgroups different ages (<30 years older), phenotypes three most common genotype groups (null, I2 splice I172N) Focus was cardiovascular metabolic risk, bone health females fertility males. Cardiovascular risk: Younger female male had similar waist/hip ratio, lean fat mass insulin values. Older higher values controls. Fat but younger patients. Lipid profiles slightly more favourable older Gestational diabetes Few hypertension, disease diabetes. Despite moderate glucocorticoid doses, suppressed androgens. Serum liver enzymes elevated compared patients, correlated waist circumference body trunk fat. Liver even non-obese mainly attributed ≥30 who also demonstrated levels HOMA-indices. males, mass, gamma-glutamyl transpeptidase heart rate faster Insulin oral glucose tolerance test all Homocysteine lower which may be cardioprotective. Adverse found mild I172N. This group normal urinary epinephrine concentrations whereas severe genotypes null low levels. old no patient Bone females: Patients mineral density (BMD) at measured sites. 73% osteopenic osteoporotic vs 21% BMD two classic forms obvious relationship genotypes. fractures reported Fertility males: Compared national data impaired lifetime number partners smaller group. Testicular tumours (TARTs) 86% 47% pathological semen. Those semen truncal fat/lean ratio rate. FSH negatively sperm count concentration. Conclusions: Adult males have issues due corticoid supplementation. findings positive many previous reports CAH. Many parameters studied our individuals <30 not from likely reflect improvements management. LIST OF PUBLICATIONS I. Falhammar H, Filipsson Holmdahl G, Janson PO, Nordenskjold A, Hagenfeldt K, Thoren M. Metabolic profile composition women congenital 21-hydroxylase deficiency. J Clin Endocrinol Metab 2007 92:110-116 II. Increased Endocr 2009 56:601-608 III. Nystrom Wedell profile,