| Familial Kallmann syndrome with unilateral renal aplasia. | |
| | |
MedLine Citation:
|
PMID: 1080088 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
On the basis of studies in two brothers and their double first cousin, the Kallmann syndrome (KS) is discussed as an X-linked syndrome of anosmic hypogonadotropic hypogonadism. The anosmia is thought to represent agenesis or hypoplasia of the olfactory lobes, the mildest form of the alobar holoprosencephaly developmental field defect; this is supported by the finding of hypotelorism in two of the patients and their mother. The endocrine defect is thought to represent a hypothalamic abnormality of the luteinizing hormone releasing hormone; borderline normal intelligence may represent another pleio-tropic CNS manifestation of the KS gene. All three affected males had unilateral renal aplasia, associated in one with ipsilateral absence of the testis. The presence of at least two developmental field defects (involving the CNS and urogenital system) makes it likely that the KS is a true multiple congenital anomaly syndrome; this is supported by the finding of additional, mostly minor, anomalies reported by other investigators. Heterozygous females may also show manifestations of anosmia, hypogonadism, possibly even internal genital malformation; however, genetic heterogeneity of anosmic hypogonadism is possible, and for the time being it is probably better to designate sporadic female cases of anosmic hypogonadism as examples of the olfacto-genital syndrome of DeMorsier. Linkage studies are urgently needed to clear up the question of genetic heterogeneity and to help develop empiric recurrence risk figures in anosmic hypogonadism. |
| | |
Authors:
|
J D Wegenke; D T Uehling; J B Wear; E S Gordon; J G Bargman; J S Deacon; J P Herrmann; J M Opitz |
Related Documents
:
|
7049688 - Molecular defects in inborn disorders of collagen metabolism. 10803338 - Reconstruction of congenital chest wall deformities using solid silicone onlay prostheses. 16388228 - A case report of gilbert syndrome. 10641008 - Prenatal sonographic diagnosis of holt-oram syndrome. 21903018 - Spontaneous epidural hematoma of thoracic spine presenting as brown-séquard syndrome: ... 19001518 - Late-night salivary cortisol for diagnosis of overt and subclinical cushing's syndrome ... |
Publication Detail:
|
Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
|
Title: Clinical genetics Volume: 7 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1975 May-Jun |
Date Detail:
|
Created Date: 1975-10-28 Completed Date: 1975-10-28 Revised Date: 2006-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
|
Languages: eng Pagination: 368-81 Citation Subset: IM |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Child Color Vision Defects / genetics Eunuchism / genetics* Female Heterozygote Humans Hypogonadism / genetics*, pathology Kidney / abnormalities Linkage (Genetics) Male Mental Retardation / genetics Pedigree Syndrome Testis / pathology Urography |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: On the inhibition of elastase by serum. Some distinguishing properties of alpha1-antitrypsin and alp...
Next Document: Fibre-optic endoscopy and radiology in the investigation of the ipper gastrointestinatract.