SEXUAL PRECOCITY IN ASSOCIATION WITH SEPTO-OPTIC DYSPLASIA (SOD) AND HYPOTHALAMIC HYPOPITUITARISM
نویسندگان
چکیده
منابع مشابه
Septo-optic Dysplasia
The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative...
متن کاملVariations in PROKR2, But Not PROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia
CONTEXT Loss-of-function mutations in PROK2 and PROKR2 have been implicated in Kallmann syndrome (KS), characterized by hypogonadotropic hypogonadism and anosmia. Recent data suggest overlapping phenotypes/genotypes between KS and congenital hypopituitarism (CH), including septo-optic dysplasia (SOD). OBJECTIVE We screened a cohort of patients with complex forms of CH (n = 422) for mutations ...
متن کاملSepto-optic Dysplasia
The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative...
متن کاملSepto-optic dysplasia.
Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystag...
متن کاملSEPTO-OPTIC DYSPLASIA: EDUCATIONAL ISSUES Septa-Optic Dysplasia (SOD): Educational Issues in Literature for Teachers and Parents
Ninety-nine articles published in professional journals related to septa-optic dysplasia (SOD) or the education of young blind children were reviewed by a special education teacher and parent of a blind one year old boy diagnosed with the SOD. The articles were classified by publication type (e.g., research studies, descriptive articles, guides, position papers, reviews of literature). Fifty-th...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1977
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197704000-00341