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- Title
A young boy with diffuse hyperpigmentation and delayed puberty.
- Authors
Xian-Ling Wang; Yi-Ming Mu; Jing-Tao Dou; Zhao-Hui Lü; Bao-An Wang; Ju-Ming Lu; Chang-Yu Pan; Wang, Xian-Ling; Mu, Yi-Ming; Dou, Jing-Tao; Lü, Zhao-Hui; Wang, Bao-An; Lu, Ju-Ming; Pan, Chang-Yu
- 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.
- Subjects
PIGMENTATION disorders; METABOLIC disorders; TOMOGRAPHY; SERUM; TRIGLYCERIDES; ADRENOCORTICAL hormones; HYPOGONADISM; PUBERTY; ADRENAL diseases; HYPERLIPIDEMIA; TRANSFERASES; X-linked genetic disorders; ADRENAL insufficiency; DELAYED puberty; HYPERPIGMENTATION; INBORN errors of carbohydrate metabolism; DIAGNOSIS
- Publication
European Journal of Pediatrics, 2011, Vol 170, Issue 5, p671
- ISSN
0340-6199
- Publication type
journal article
- DOI
10.1007/s00431-010-1357-6