| Precocious puberty in a girl with floating-harbor syndrome. | |
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MedLine Citation:
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PMID: 18341094 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Floating-Harbor syndrome (FHS) is a rare genetic disorder characterized by short stature, delayed bone age, mild to moderate mental retardation, speech problems, and peculiar craniofacial features. In these patients pubertal development has been reported to be normal. In this paper, we describe a girl with FHS who developed precocious puberty. FHS diagnosis was made at 2 years 5 months on the basis of peculiar clinical features. At 7 years 7 months, the girl began pubertal development; her height was 112.5 cm (-2.42 SDS) and pubertal staging was B2 PH2 AH1. LHRH test underlined LH and FSH peak values of 11.7 mIU/ml and 6.2 mIU/ml, respectively. Plasma levels of 17beta-estradiol were normal (8.5 pg/ml). Ophthalmological and neurological examinations, including nuclear magnetic resonance imaging of the brain, were normal. Treatment with gonadotrophin-releasing hormone analogue was begun. At 10 years 1 month, because of reduced height velocity, her growth hormone secretion was evaluated with diagnosis of neurosecretory dysfunction; hGH therapy was begun. The patient showed a good response to hGH treatment, reaching a normal adult height (156.1 cm; -1.20 SDS). This report suggests that, in patients with FHS, precocious puberty should be taken into consideration; in these patients, a careful endocrinological followup for the possible presence of growth and pubertal disorders is needed. |
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Authors:
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Stefano Stagi; Fiorella Galluzzi; Giuseppe Bindi; Elisabetta Lapi; Cecilia Cecchi; Roberto Salti; Francesco Chiarelli |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of pediatric endocrinology & metabolism : JPEM Volume: 20 ISSN: 0334-018X ISO Abbreviation: J. Pediatr. Endocrinol. Metab. Publication Date: 2007 Dec |
Date Detail:
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Created Date: 2008-03-17 Completed Date: 2008-05-12 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9508900 Medline TA: J Pediatr Endocrinol Metab Country: England |
Other Details:
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Languages: eng Pagination: 1333-7 Citation Subset: IM |
Affiliation:
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Paediatric Endocrinology Unit, University of Florence, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Body Height
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drug effects Child Estradiol / blood Female Follicle Stimulating Hormone / blood Gonadotropin-Releasing Hormone / analogs & derivatives, therapeutic use Growth Disorders / blood, drug therapy Humans Luteinizing Hormone / blood Neurologic Examination / methods Puberty, Precocious / blood, drug therapy, etiology* Rare Diseases / complications*, diagnosis* Syndrome |
| Chemical | |
Reg. No./Substance:
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33515-09-2/Gonadotropin-Releasing Hormone; 50-28-2/Estradiol; 9002-67-9/Luteinizing Hormone; 9002-68-0/Follicle Stimulating Hormone |
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