Literature DB >> 7607617

Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome.

K Devriendt1, L Lemli, M Craen, F de Zegher.   

Abstract

We report on a girl with the kabuki makeup syndrome, including short stature, premature thelarche and partial growth hormone deficiency of hypothalamic origin, without stalk interruption. Treatment with recombinant human growth hormone resulted in an increase of annualized growth velocity from 3.6 to 11.2 cm. The kabuki makeup syndrome may be associated with hypothalamopituitary dysfunction.

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Year:  1995        PMID: 7607617     DOI: 10.1159/000184355

Source DB:  PubMed          Journal:  Horm Res        ISSN: 0301-0163


  6 in total

1.  Kabuki make-up syndrome.

Authors:  M L Kulkarni; Sudarshan K Shetty; V K Chandrasekar; Preethi M Kulkarni
Journal:  Indian J Pediatr       Date:  2004-09       Impact factor: 1.967

2.  Hypothalamic pituitary complications in Kabuki syndrome.

Authors:  Naoko Ito; Kenji Ihara; Yasushi Tsutsumi; Noriko Miyake; Naomichi Matsumoto; Toshiro Hara
Journal:  Pituitary       Date:  2013-06       Impact factor: 4.107

3.  A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.

Authors:  Masaki Takagi; Tomohiro Ishii; Chiharu Torii; Kenjiro Kosaki; Tomonobu Hasegawa
Journal:  Pituitary       Date:  2014-12       Impact factor: 4.107

4.  A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.

Authors:  Jung-Eun Moon; Su-Jeong Lee; Cheol Woo Ko
Journal:  BMC Med Genet       Date:  2018-06-18       Impact factor: 2.103

5.  High Fat Diet Triggers a Reduction in Body Fat Mass in Female Mice Deficient for Utx demethylase.

Authors:  Kazushige Ota; Akiyoshi Komuro; Hisayuki Amano; Akinori Kanai; Kai Ge; Takeshi Ueda; Hitoshi Okada
Journal:  Sci Rep       Date:  2019-07-11       Impact factor: 4.379

6.  Epigenetic interaction between UTX and DNMT1 regulates diet-induced myogenic remodeling in brown fat.

Authors:  Fenfen Li; Jia Jing; Miranda Movahed; Xin Cui; Qiang Cao; Rui Wu; Ziyue Chen; Liqing Yu; Yi Pan; Huidong Shi; Hang Shi; Bingzhong Xue
Journal:  Nat Commun       Date:  2021-11-25       Impact factor: 14.919

  6 in total

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