A young boy with diffuse hyperpigmentation and delayed puberty.
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.
Department of Endocrinology, Chinese PLA General Hospital, 28 Fu Xing Road, Beijing, China 100853.
Xian-Ling
XL
Wang
Yi-Ming
YM
Mu
Jing-Tao
JT
Dou
Zhao-Hui
ZH
Lü
Bao-An
BA
Wang
Ju-Ming
JM
Lu
Chang-Yu
CY
Pan
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D000309:Adrenal Insufficiency; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D005991:Glycerol Kinase / Q000172:deficiency / Q000235:genetics; D006801:Humans; D017495:Hyperpigmentation / Q000209:etiology*; D015228:Hypertriglyceridemia / Q000209:etiology; D000075262:Hypoadrenocorticism, Familial; D008297:Male; D011628:Puberty, Delayed / Q000209:etiology*
D005991:Glycerol Kinase