Literature DB >> 21116648

A young boy with diffuse hyperpigmentation and delayed puberty.

Xian-Ling Wang1, Yi-Ming Mu, Jing-Tao Dou, Zhao-Hui Lü, Bao-An Wang, Ju-Ming Lu, Chang-Yu Pan.   

Abstract

An 18-year-old male patient had presented with diffuse hyperpigmentation after birth and with adrenal insufficiency syndrome since childhood. After puberty, no secondary sexual signs developed. Laboratory examination showed an extremely high concentration of serum triglycerides (9.14 mmol/L) and plasma adrenocorticotropic hormone (>275 pmol/L), however, a low concentration of plasma free cortisone (<25.1-67.6 nmol/L). Abdomen computed tomography detected atrophy of both adrenals glands.

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Year:  2010        PMID: 21116648     DOI: 10.1007/s00431-010-1357-6

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  9 in total

1.  Gene deletion analysis of a Chinese boy with Xp21 contiguous gene deletion syndrome.

Authors:  Hong-wei Ma; Jun Jiang; Yue-ping Wang; Zhi-chao Wang; Li-ying Chen; Matsuo Masafumi
Journal:  Chin Med J (Engl)       Date:  2004-05       Impact factor: 2.628

2.  A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.

Authors:  Roger D Klein; Erik C Thorland; Patrick R Gonzales; Patricia A Beck; Daniel J Dykas; James M McGrath; Allen E Bale
Journal:  Clin Chem       Date:  2006-08-03       Impact factor: 8.327

3.  Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita.

Authors:  Arvind Sehgal; Jacqueline Stack
Journal:  Indian J Pediatr       Date:  2005-01       Impact factor: 1.967

Review 4.  Isolated and contiguous glycerol kinase gene disorders: a review.

Authors:  D R Sjarif; J K Ploos van Amstel; M Duran; F A Beemer; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982

5.  Dysmorphic features in patients with complex glycerol kinase deficiency.

Authors:  A Scheuerle; F Greenberg; E R McCabe
Journal:  J Pediatr       Date:  1995-05       Impact factor: 4.406

6.  A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita.

Authors:  Esra Arun Ozer; Aysun Kaya; Munevver Yildirimer; Ozlem Guler; Sule Can; Halil Aydinlioglu
Journal:  Eur J Pediatr       Date:  2008-07-05       Impact factor: 3.183

7.  Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.

Authors:  Fan Yang; Keiichi Hanaki; Tomoe Kinoshita; Yuki Kawashima; Jun-ichi Nagaishi; Susumu Kanzaki
Journal:  Eur J Pediatr       Date:  2008-07-08       Impact factor: 3.183

8.  Pseudo-hypertriglyceridaemia: a measurement artefact due to glycerol kinase deficiency.

Authors:  T A Walmsley; H C Potter; P M George; C M Florkowski
Journal:  Postgrad Med J       Date:  2008-10       Impact factor: 2.401

9.  [Complex glycerol kinase deficiency in three children].

Authors:  Xiu-Zhen Li; Li Liu; Hui-Fen Mei
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2007-10
  9 in total

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