Congenital X-linked adrenal hypoplasia.
Fetal adrenal hypoplasia should be considered in pregnant patients with family histories of the condition and/or following observation of drastically reduced maternal estriol excretion. Antepartum diagnosis is important in the clinical management of these infants since deteriorating adrenal function frequently follows an asymptomatic period during the early neonatal life. Antepartum and neonatal diagnostic studies can identify fetal adrenal hypoplasia.
D000309:Adrenal Insufficiency / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D003687:Dehydroepiandrosterone; D004964:Estriol / Q000652:urine; D004967:Estrogens / Q000652:urine; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome
D004967:Estrogens; D003687:Dehydroepiandrosterone; D004964:Estriol; D006854:Hydrocortisone