Document Detail


Familial congenital hypopituitarism with central diabetes insipidus.
MedLine Citation:
PMID:  8157716     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Congenital hypopituitarism (CH) presenting with central diabetes insipidus is typically associated with midline facial deformities or ophthalmological abnormalities. We present three brothers with CH and central diabetes insipidus not associated with any of these predisposing conditions. All three subjects presented with clinical features typical for CH (neonatal hypoglycemia, short stature, protruding forehead, and microgenitalia). All had hypoplastic genitalia indicating in utero gonadotropin deficiency, and all had complete GH deficiency. One represented low levels of thyroid hormones and TSH, indicating central hypothyroidism. Water deprivation examination in two of the brothers demonstrated complete arginine vasopressin deficiency in one and partial deficiency in the other. Magnetic resonance imaging indicated absence of the pituitary stalk, severe hypoplastic anterior pituitary in all three brothers, and absence of any posterior pituitary gland in two of the three. The other sibling had an ectopic posterior pituitary. This first report of familial CH with central diabetes insipidus may represent a previously unknown midline anomaly and provide new insights into the genetic control of pituitary and hypothalamic development.
Authors:
H Yagi; K Nagashima; H Miyake; S Tamai; K Onigata; S Yutani; T Kuroume
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  78     ISSN:  0021-972X     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  1994 Apr 
Date Detail:
Created Date:  1994-05-19     Completed Date:  1994-05-19     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  884-9     Citation Subset:  AIM; IM    
Affiliation:
Department of Pediatrics, Gunma University School of Medicine, Japan.
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MeSH Terms
Descriptor/Qualifier:
Antibodies / analysis,  immunology
Child
Child, Preschool
Diabetes Insipidus / blood,  etiology*
Family Health
Gene Deletion
Growth Hormone / genetics,  immunology
Humans
Hypopituitarism / blood,  complications*,  congenital*
Infant
Magnetic Resonance Imaging
Male
Pituitary Gland / pathology
Thyrotropin / blood
Thyroxine / blood
Triiodothyronine / blood
Water Deprivation
Chemical
Reg. No./Substance:
0/Antibodies; 6893-02-3/Triiodothyronine; 7488-70-2/Thyroxine; 9002-71-5/Thyrotropin; 9002-72-6/Growth Hormone

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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