Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant

Atabek, Mehmet Emre; YEUNG, Matthew Chun-wing; Ustyol, Ala; CHAN, Angel O. K.; TAYLOR, Norman

Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant

Ala ÜSTYOL, (Necmettin Erbakan Üniversitesi, Tıp Fakültesi, Pediatrik Endokrinoloji ve Diyabet Bölümü, Konya, Türkiye)

Mehmet Emre ATABEK, (Necmettin Erbakan Üniversitesi, Tıp Fakültesi, Pediatrik Endokrinoloji ve Diyabet Bölümü, Konya, Türkiye)

Norman TAYLOR, (Kings College Hospital, Clinic of Clinical Biochemistry, London, United Kingdom)

Matthew Chun-wing YEUNG, (The University of Hong Kong, Queen Mary Hospital, Clinic of Pathology, Pokfulam, Hong Kong)

Angel O. K. CHAN (The University of Hong Kong, Queen Mary Hospital, Clinic of Pathology, Pokfulam, Hong Kong)

Journal of Clinical Research in Pediatric Endocrinology

1 0

Yıl: 2016 Cilt: 8 Sayı: 3 Sayfa Aralığı: 356 - 359 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022

Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant

Öz:

Isolated aldosterone synthase deficiency may result in life-threatening saltwasting and failure to thrive. The condition involves hyperkalemia accompanying hyponatremia. Two types of aldosterone synthase deficiency may be observed depending on hormone levels: corticosterone methyl oxidase type 1 (CMO 1) and CMO 2. Herein, we describe a Turkish infant patient with aldosterone synthase deficiency who presented with failure to thrive and salt wasting but with normal potassium levels. Urinary steroid characteristics were compatible with CMO I deficiency. Diagnosis of aldosterone synthase deficiency was confirmed by mutational analysis of the CYP11B2 gene which identified the patient as homozygous for two mutations: c.788T>A (p.Ile263Asn) and c.1157T>C (p.Val386Ala). Family genetic study revealed that the mother was heterozygous for c.788T>A and homozygous for c.1157T>C and the father was heterozygous for both c.788T>A and c.1157T>C. To the best of our knowledge, this is only the second Turkish case with a confirmed molecular basis of type 1 aldosterone synthase deficiency. This case is also significant in showing that spot urinary steroid analysis can assist with the diagnosis and that hyperkalemia is not necessarily part of the disease.

Anahtar Kelime:

Konular: Endokrinoloji ve Metabolizma Pediatri

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

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APA	Ustyol A, Atabek M, TAYLOR N, YEUNG M, CHAN A (2016). Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant. , 356 - 359.
Chicago	Ustyol Ala,Atabek Mehmet Emre,TAYLOR Norman,YEUNG Matthew Chun-wing,CHAN Angel O. K. Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant. (2016): 356 - 359.
MLA	Ustyol Ala,Atabek Mehmet Emre,TAYLOR Norman,YEUNG Matthew Chun-wing,CHAN Angel O. K. Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant. , 2016, ss.356 - 359.
AMA	Ustyol A,Atabek M,TAYLOR N,YEUNG M,CHAN A Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant. . 2016; 356 - 359.
Vancouver	Ustyol A,Atabek M,TAYLOR N,YEUNG M,CHAN A Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant. . 2016; 356 - 359.
IEEE	Ustyol A,Atabek M,TAYLOR N,YEUNG M,CHAN A "Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant." , ss.356 - 359, 2016.
ISNAD	Ustyol, Ala vd. "Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant". (2016), 356-359.

APA	Ustyol A, Atabek M, TAYLOR N, YEUNG M, CHAN A (2016). Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant. Journal of Clinical Research in Pediatric Endocrinology, 8(3), 356 - 359.
Chicago	Ustyol Ala,Atabek Mehmet Emre,TAYLOR Norman,YEUNG Matthew Chun-wing,CHAN Angel O. K. Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant. Journal of Clinical Research in Pediatric Endocrinology 8, no.3 (2016): 356 - 359.
MLA	Ustyol Ala,Atabek Mehmet Emre,TAYLOR Norman,YEUNG Matthew Chun-wing,CHAN Angel O. K. Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant. Journal of Clinical Research in Pediatric Endocrinology, vol.8, no.3, 2016, ss.356 - 359.
AMA	Ustyol A,Atabek M,TAYLOR N,YEUNG M,CHAN A Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant. Journal of Clinical Research in Pediatric Endocrinology. 2016; 8(3): 356 - 359.
Vancouver	Ustyol A,Atabek M,TAYLOR N,YEUNG M,CHAN A Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant. Journal of Clinical Research in Pediatric Endocrinology. 2016; 8(3): 356 - 359.
IEEE	Ustyol A,Atabek M,TAYLOR N,YEUNG M,CHAN A "Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant." Journal of Clinical Research in Pediatric Endocrinology, 8, ss.356 - 359, 2016.
ISNAD	Ustyol, Ala vd. "Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant". Journal of Clinical Research in Pediatric Endocrinology 8/3 (2016), 356-359.