title: [Hypoplasia adrenal congenita of anencephalic type: two cases with pituitary abnormalities and review of literature].
abstract: Hypoplasia adrenal congenita is an extremely uncommon disease of early onset. This condition can be lethal in the absence of treatment. Some forms are due to the congenital adrenal hypoplasia of anencephalic type whose origin is even unknown. Here, we present two cases of congenital adrenal hypoplasia of anencephalic type with pituitary abnormalities. The two male newborns died because adrenal insufficiency in the neonatal period. The adrenal glands were hypoplastic with a histological structure of anencephalic type Immunocytochemical study of the pituitary revealed an absence of the gonadotrophs. No mutation of DAX 1 and SF-1 was found.
authors.affiliation: Laboratoire d'histologie et embryologie moléculaires, faculté de médecine Lyon-Est, rue Guillaume-Paradin, 69372 Lyon cedex 08, France.
authors.forename: K
authors.initials: K
authors.lastname: Folligan
authors.forename: J
authors.initials: J
authors.lastname: Roume
authors.forename: F
authors.initials: F
authors.lastname: Razavi
authors.forename: S
authors.initials: S
authors.lastname: Sepaniak
authors.forename: R
authors.initials: R
authors.lastname: Bouvier
authors.forename: Y
authors.initials: Y
authors.lastname: Morel
authors.forename: J
authors.initials: J
authors.lastname: Trouillas
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000311:Adrenal Glands / Q000648:ultrastructure; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics / Q000473:pathology; D000309:Adrenal Insufficiency; D000757:Anencephaly / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology; D052680:Corticotrophs / Q000737:chemistry / Q000648:ultrastructure; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology; D005836:Genitalia, Female / Q000473:pathology; D005837:Genitalia, Male / Q000473:pathology; D052681:Gonadotrophs / Q000473:pathology; D006801:Humans; D000075262:Hypoadrenocorticism, Familial; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010902:Pituitary Gland / Q000002:abnormalities*; D010903:Pituitary Gland, Anterior / Q000737:chemistry / Q000648:ultrastructure; D010904:Pituitary Gland, Posterior / Q000002:abnormalities; D000072260:RNA Splicing Factors; D027724:Reproductive Techniques, Assisted; D014157:Transcription Factors / Q000235:genetics; D014617:Vacuoles / Q000648:ultrastructure
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D000072260:RNA Splicing Factors; C107467:SF1 protein, human; D014157:Transcription Factors