Investigation and initial management of ambiguous genitalia.
Infants rarely present with truly ambiguous genitalia and such children should be evaluated by experts who work within a multidisciplinary team that is dedicated for evaluation and management of children and adults with suspected and confirmed disorders of sex development. The paediatric endocrinologist who is a vital and often the central member of this clinical team not only needs to lead the clinical evaluation of the infant systematically but also needs to be sensitive to the needs of the infant, the parents and the rest of the team. A thorough knowledge of the underlying pathophysiology and the strengths and weaknesses of the investigative tools that are available for reaching a diagnosis is crucial.
Ahmed
S Faisal
SF
Department of Child Health, Royal Hospital For Sick Children, University of Glasgow, Yorkhill, Glasgow G3 8SJ, United Kingdom. s.f.ahmed@clinmed.gla.ac.uk
Rodie
Martina
M
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis; D054304:Anti-Mullerian Hormone / Q000097:blood; D002648:Child; D002675:Child, Preschool; D006063:Chorionic Gonadotropin; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000523:psychology / Q000628:therapy; D005260:Female; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010290:Parents; D010348:Patient Care Team; D011375:Progesterone Reductase / Q000172:deficiency; D013252:Steroid 11-beta-Hydroxylase / Q000378:metabolism; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics; D013255:Steroid 21-Hydroxylase / Q000378:metabolism; D013739:Testosterone / Q000096:biosynthesis
D006063:Chorionic Gonadotropin; D013739:Testosterone; D019326:17-alpha-Hydroxyprogesterone; D054304:Anti-Mullerian Hormone; C533068:3 beta-hydroxysteroid dehydrogenase type II; D011375:Progesterone Reductase; D013255:Steroid 21-Hydroxylase; C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase; D013252:Steroid 11-beta-Hydroxylase