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Complex glycerol kinase deficiency and adrenocortical insufficiency in two neonates
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نویسنده
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korkut s. ,baştuğ o. ,raygada m. ,hatipoğlu n. ,kurtoğlu s. ,kendirci m. ,lyssikatos c. ,stratakis c.a.
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منبع
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journal of clinical research in pediatric endocrinology - 2016 - دوره : 8 - شماره : 4 - صفحه:468 -471
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چکیده
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Contiguous gene deletions of chromosome xp21 can lead to glycerol kinase deficiency and severe adrenocortical insufficiency (ai) in a male newborn among other problems. we describe our experience with two such patients who presented with dysmorphic facies,ai,and pseudo-hypertriglyceridemia. both infants had normal serum 17-hidroxyprogesterone levels,and adrenal glands could not be observed with ultrasonography. creatine kinase and triglyceride levels were measured to elucidate the etiology of adrenal hypoplasia and were above normal limits in both cases. both patients required steroid and salt supplementation. they were both found to have xp21.2 deletions (dmd,nr0b1,gk,il1rapl1). we conclude that ai in the context of other genetic abnormalities should prompt chromosomal investigations in the absence of another unifying explanation. © journal of clinical research in pediatric endocrinology.
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کلیدواژه
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Adrenal insufficiency; Deletions; Glycerol kinase; X-chromosome
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آدرس
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erciyes university faculty of medicine,department of pediatrics,division of neonatology,kayseri, Turkey, erciyes university faculty of medicine,department of pediatrics,division of neonatology,kayseri, Turkey, eunice kennedy shriver national institute of child health and human development,national institutes of health,section on endocrinology and genetics,developmental endocrinology and genetics and pediatric endocrinology inter-institute training,bethesda,md, United States, erciyes university faculty of medicine,department of pediatrics,division of pediatric endocrinology,kayseri, Turkey, erciyes university faculty of medicine,department of pediatrics,division of neonatology,kayseri,turkey,erciyes university faculty of medicine,department of pediatrics,division of pediatric endocrinology,kayseri, Turkey, erciyes university faculty of medicine,department of pediatrics,division of pediatric endocrinology,kayseri,turkey,erciyes university faculty of medicine,department of pediatrics,division of pediatric metabolism,kayseri, Turkey, eunice kennedy shriver national institute of child health and human development,national institutes of health,section on endocrinology and genetics,developmental endocrinology and genetics and pediatric endocrinology inter-institute training,bethesda,md, United States, eunice kennedy shriver national institute of child health and human development,national institutes of health,section on endocrinology and genetics,developmental endocrinology and genetics and pediatric endocrinology inter-institute training,bethesda,md, United States
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Authors
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