| Clues to an early diagnosis of Kallmann syndrome. | |
| | |
MedLine Citation:
|
PMID: 20949504 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
Kallmann syndrome (KS) is defined by the association of idiopathic hypogonadotropic hypogonadism and anosmia/hyposmia. Diagnosis is frequently delayed, however, because hypogonadotropic hypogonadism is usually not apparent until puberty and individuals with anosmia/hyposmia are often unaware of this sensory deficit. Mutations in at least six genes have been associated with KS; however, the sensitivity of molecular testing is only about 30% and, therefore, the diagnosis is largely based on clinical findings. We describe the findings in six individuals with KS, which demonstrate the utility of associated anomalies in making this diagnosis. Analysis of our case series and literature review suggests the consideration of KS for males with microphallus and/or cryptorchidism and for any patient with hearing loss, renal agenesis, and/or synkinesis. Conversely, patients with features of KS should have an audiology evaluation and a renal ultrasound. |
| | |
Authors:
|
Julie D Kaplan; Jonathan A Bernstein; Andrea Kwan; Louanne Hudgins |
Related Documents
:
|
306444 - Kartagener syndrome with abnormalities of cilia. 10951304 - Ophthalmic manifestations of angelman syndrome. 19882674 - The emerging role of the distal fallopian tube and p53 in pelvic serous carcinogenesis. 11884784 - Proteus syndrome. 2253174 - Lesser metatarsalgia. rheumatologic considerations. 11692824 - Papillon lefevre syndrome: management of a case. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Nov |
Date Detail:
|
Created Date: 2010-10-27 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 2796-801 Citation Subset: IM |
Copyright Information:
|
© 2010 Wiley-Liss, Inc. |
Affiliation:
|
Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA. jkaplan@peds.umaryland |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome.
Next Document: Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion a...