title: Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.
abstract: 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.
authors.affiliation: Erciyes University Faculty of Medicine, Department of Pediatrics, Division of Neonatology, Kayseri, Turkey, Phone: +90 352 207 66 66 E-mail: sabriyeyaman@hotmail.com.
authors.forename: Sabriye
authors.initials: S
authors.lastname: Korkut
authors.forename: Osman
authors.initials: O
authors.lastname: Baştuğ
authors.forename: Margarita
authors.initials: M
authors.lastname: Raygada
authors.forename: Nihal
authors.initials: N
authors.lastname: Hatipoğlu
authors.forename: Selim
authors.initials: S
authors.lastname: Kurtoğlu
authors.forename: Mustafa
authors.initials: M
authors.lastname: Kendirci
authors.forename: Charalampos
authors.initials: C
authors.lastname: Lyssikatos
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics* / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000378:metabolism; D005991:Glycerol Kinase / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male
chemical_list: D005991:Glycerol Kinase