Literature DB >> 16042330

Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome.

Kam Hung Ma1, Siu Ngan Chow, Fai To Yau.   

Abstract

A 6 year-old Chinese boy with Kabuki syndrome presented with hypoglycemic seizure. He was diagnosed to have isolated adrenocorticotropin deficiency. To our knowledge, this is the first case of Kabuki syndrome with isolated adrenocorticotropin deficiency in the literature.

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Year:  2005        PMID： 16042330     DOI： 10.1515/jpem.2005.18.6.607

Source DB:  PubMed          Journal:  J Pediatr Endocrinol Metab        ISSN： 0334-018X            Impact factor:   1.634


  5 in total

1.  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

2.  Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.

Authors:  Y A Zarate; H Zhan; J R Jones
Journal:  Mol Syndromol       Date:  2012-08-30

3.  Severe Hypoglycemia due to Isolated ACTH Deficiency in Children: A New Case Report and Review of the Literature.

Authors:  Michael Y Torchinsky; Robert Wineman; George W Moll
Journal:  Int J Pediatr       Date:  2011-03-30

4.  Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review.

Authors:  Hobia Gole; Raymond Chuk; David Coman
Journal:  Clin Pract       Date:  2016-08-23

Review 5.  Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

Authors:  Shuang Liu; Xiafei Hong; Cheng Shen; Quan Shi; Jian Wang; Feng Xiong; Zhengqing Qiu
Journal:  BMC Med Genet       Date:  2015-04-21       Impact factor: 2.103
  5 in total

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