| Impaired puberty, fertility and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys. | |
| | |
MedLine Citation:
|
PMID: 22236473 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
ContextGender assignment followed by surgery and hormonal therapy is a difficult decision in the management of 45,X/46,XY patients with abnormal external genitalia at birth considering the paucity of studies evaluating pubertal development and fertility outcome, most notably for patients raised as boys.ObjectiveThe purpose of the present study was to describe the pubertal course of twenty 45,X/46,XY patients born with ambiguous genitalia and raised as boys.MethodsThis is a multicenter retrospective study.ResultsMean age at study was 25.6 ± 2.4 years. 85% of the patients presented a "classical" mixed gonadal dysgenetic phenotype at birth. Puberty was initially spontaneous in all but three boys, though, in 6 other patients, testosterone therapy was subsequently necessary for completion of puberty. 67% of the remaining patients presented signs of declined testicular function at the end of puberty (increased levels of FSH, low levels of testosterone and/or inhibin B). Moreover, an abnormal structure of the Y chromosome, known to alter fertility, was found in 10/16 (63%) patients. Two developed testicular cancer. Half of the patients have an adult penile length of less than 80 mm. Mean adult height is 156.9 ± 2 cm, regardless of growth hormone treatment.ConclusionsIn summary, 45,X/46,XY children born with ambiguous genitalia and raised as boys have an altered pubertal course and impaired fertility associated with adult short stature, which should therefore be taken into consideration for the management of these patients. |
| | |
Authors:
|
Laetitia Martinerie; Yves Morel; Claire-Lise Gay; Catherine Pienkowski; Marc De Kerdanet; Sylvie Cabrol; Claudine Lecointre; Regis Coutant; Sabine Baron; Michel Colle; Raja Brauner; Elisabeth Tthibaud; Juliane Leger; Claire Nihoul Fekete; Claire Bouvattier |
Related Documents
:
|
6842413 - Management of asthma in out-patients. 2111363 - Effect of intermaxillary fixation on pulmonary function. 7893373 - The clinimetrics of hypokinesia in parkinson's disease: subjective versus objective ass... |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2012-1-11 |
Journal Detail:
|
Title: European journal of endocrinology / European Federation of Endocrine Societies Volume: - ISSN: 1479-683X ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
|
Created Date: 2012-1-12 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9423848 Medline TA: Eur J Endocrinol Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
|
L Martinerie, Pediatric Endocrinology, Bicetre Hospital, Le Kremlin Bicetre, France. |
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: Design, synthesis and evaluation of caffeic acid phenethyl ester-based inhibitors targeting a select...
Next Document: Lymphocyte signaling: regulation of FoxO transcription factors by microRNAs.