Literature DB >> 22001135

Growth hormone deficiency: an unusual presentation of floating harbor syndrome.

Assimina Galli-Tsinopoulou1, Ioannis Kyrgios, Eleftheria Emmanouilidou, Ioanna Maggana, Eleni Kotanidou, Paraskevi Kokka, Charilaos Stylianou.   

Abstract

Floating-Harbor Syndrome (FHS) is a very rare condition of unknown etiology characterized by short stature, delayed bone age, characteristic facial features, delayed language skills and usually normal motor development. This syndrome has only once been associated with growth hormone deficiency and precocious puberty in the same patient. We describe a 5 4/12 year-old girl with the typical features of FHS in whom growth hormone deficiency was diagnosed and two years later central precocious puberty was noted. The patient showed a good response to human recombinant growth hormone as well as gonadotropin releasing hormone analogue treatment.

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Year:  2011        PMID: 22001135     DOI: 10.14310/horm.2002.1314

Source DB:  PubMed          Journal:  Hormones (Athens)        ISSN: 1109-3099            Impact factor:   2.885


  5 in total

Review 1.  [Floating-Harbor syndrome: a case report and literature review].

Authors:  Rong-Min Li; Ya-Chao Lu; Zhen Li; Jie-Ying Wang; Jie Chang; Shu-Qin Lei; Qiao Zeng; Yan-Mei Sang
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2019-12

2.  Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review.

Authors:  Mariia E Turkunova; Yury A Barbitoff; Elena A Serebryakova; Dmitrii E Polev; Olga S Berseneva; Elena B Bashnina; Vladislav S Baranov; Oleg S Glotov; Andrey S Glotov
Journal:  Front Genet       Date:  2022-05-18       Impact factor: 4.772

3.  The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

Authors:  Sarah M Nikkel; Andrew Dauber; Sonja de Munnik; Meghan Connolly; Rebecca L Hood; Oana Caluseriu; Jane Hurst; Usha Kini; Malgorzata J M Nowaczyk; Alexandra Afenjar; Beate Albrecht; Judith E Allanson; Paolo Balestri; Tawfeg Ben-Omran; Francesco Brancati; Isabel Cordeiro; Bruna Santos da Cunha; Louisa A Delaney; Anne Destrée; David Fitzpatrick; Francesca Forzano; Neeti Ghali; Greta Gillies; Katerina Harwood; Yvonne M C Hendriks; Delphine Héron; Alexander Hoischen; Engela Magdalena Honey; Lies H Hoefsloot; Jennifer Ibrahim; Claire M Jacob; Sarina G Kant; Chong Ae Kim; Edwin P Kirk; Nine V A M Knoers; Didier Lacombe; Chung Lee; Ivan F M Lo; Luiza S Lucas; Francesca Mari; Veronica Mericq; Jukka S Moilanen; Sanne Traasdahl Møller; Stephanie Moortgat; Daniela T Pilz; Kate Pope; Susan Price; Alessandra Renieri; Joaquim Sá; Jeroen Schoots; Elizabeth L Silveira; Marleen E H Simon; Anne Slavotinek; I Karen Temple; Ineke van der Burgt; Bert B A de Vries; James D Weisfeld-Adams; Margo L Whiteford; Dagmar Wierczorek; Jan M Wit; Connie Fung On Yee; Chandree L Beaulieu; Sue M White; Dennis E Bulman; Ernie Bongers; Han Brunner; Murray Feingold; Kym M Boycott
Journal:  Orphanet J Rare Dis       Date:  2013-04-27       Impact factor: 4.123

4.  Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.

Authors:  Hyun Woo Son; Jeong Eun Lee; Seung Hwan Oh; Changwon Keum; Woo Yeong Chung
Journal:  Ann Pediatr Endocrinol Metab       Date:  2020-06-30

5.  Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.

Authors:  Shujie Zhang; Shaoke Chen; Haisong Qin; Haiming Yuan; Yalei Pi; Yu Yang; Hui Huang; Guimei Li; Yan Sun; Zhihua Wang; Huamei Ma; Xiaoling Fu; Ting Zhou; Jian Wang; Huifeng Zhang; Yiping Shen
Journal:  Orphanet J Rare Dis       Date:  2019-06-14       Impact factor: 4.123

  5 in total

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