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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References
Klein RD, Thorland EC, Gonzales PR et al (2006) A multiplex assay for the detection and mapping of complex glycerol kinase deficiency. Clin Chem 52:1864–1870
Li XZ, Liu L, Mei HF (2007) Complex glycerol kinase deficiency in three children. Zhongguo Dang Dai Er Ke Za Zhi 9:441–444, Chinese
Ma HW, Jiang J, Wang YP et al (2004) Gene deletion analysis of a Chinese boy with Xp21 contiguous gene deletion syndrome. Chin Med J 117:789–791
Ozer EA, Kaya A, Yildirimer M et al (2009) A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita. Eur J Pediatr 168:367–369
Scheuerle A, Greenberg F, McCabe ER (1995) Dysmorphic features in patients with complex glycerol kinase deficiency. J Pediatr 126:764–767
Sehgal A, Stack J (2005) Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita. Indian J Pediatr 72:67–69
Sjarif DR, Ploos van Amstel JK, Duran M et al (2000) Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis 23:529–547
Walmsley TA, Potter HC, George PM et al (2008) Pseudo-hypertriglyceridemia: a measurement artefact due to glycerol kinase deficiency. Postgrad Med J 84:552–554
Yang F, Hanaki K, Kinoshita T et al (2009) Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene. Eur J Pediatr 168:329–331
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Wang, XL., Mu, YM., Dou, JT. et al. A young boy with diffuse hyperpigmentation and delayed puberty. Eur J Pediatr 170, 671–673 (2011). https://doi.org/10.1007/s00431-010-1357-6
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DOI: https://doi.org/10.1007/s00431-010-1357-6