title: Endocrinopathies associated with midline cerebral and cranial malformations.
abstract: We systematically reviewed a series of patients (n = 85) with midline cerebral and cranial malformations to correlate the endocrinopathy with the neuroanatomic defect. Midline cleft lip and palate was associated not only with growth hormone deficiency (GHD) but also with diabetes insipidus (DI); holoprosencephaly and optic nerve hypoplasia with absence of the septum pellucidum had a similar incidence of GHD and DI. Optic nerve hypoplasia with absence of the septum pellucidum had the highest incidence of multiple pituitary endocrinopathies and of neonatal hypoglycaemia. Unilateral, although more commonly bilateral, optic nerve hypoplasia was associated with GHD.
authors.affiliation: Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom.
authors.forename: Cristina
authors.initials: C
authors.lastname: Traggiai
authors.forename: Richard
authors.initials: R
authors.lastname: Stanhope
mesh_terms: D002648:Child; D002971:Cleft Lip / Q000150:complications*; D002972:Cleft Palate / Q000150:complications*; D003919:Diabetes Insipidus / Q000150:complications*; D004700:Endocrine System Diseases; D005260:Female; D016142:Holoprosencephaly / Q000150:complications*; D006801:Humans; D008297:Male; D009900:Optic Nerve / Q000473:pathology*; D012189:Retrospective Studies; D013687:Telencephalon / Q000002:abnormalities*