title: X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.
abstract: X-linked Adrenal Hypoplasia Congenita (AHC) is caused by deletions or point mutations in the NR0B1 (DAX1) gene. We present a boy with AHC who came at the age of 25 days in a severe state due to prolonged vomiting and progressive dehydration. Laboratory studies showed prominent hyponatremia and hyperkaliemia but not hypoglycemia. Primary adrenal insufficiency was confirmed with low serum cortisol levels and high plasma ACTH levels. Hydrocortisone therapy combined with saline and glucose infusions was started immediately after blood collection. Two exons of the NR0B1 (DAX1) gene were impossible to amplify using the standard PCR method. Array CGH was used to confirm the putative copy-number variation of NR0B1 (DAX1) revealing a novel hemizygous deletion encompassing the entire NR0B1 (DAX1) gene together with the MAGEB genes. This genetic defect was also present in heterozygosity in the patient's mother. We show that NR0B1 (DAX1) gene analysis is important for confirmation of AHC diagnosis and highlights the role of genetic counseling in families with AHC patients, particularly those with X chromosome microdeletions, covering more than NR0B1 (DAX1) alone. We hope that further clinical follow-up of this patient and his family will shed a new light on the role of MAGEB genes.
authors.affiliation: Poznan University of Medical Sciences, 2nd Chair of Pediatrics, Department of Pediatric Endocrinology and Rheumatology, 27/33 Szpitalna Street, 60-572 Poznan, Poland.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Rojek
authors.affiliation: Poznan University of Medical Sciences, Chair and Department of Medical Genetics, Rokietnicka 8 Street, 60-806 Poznan, Poland; Center for Medical Genetics GENESIS, 4 Grudzieniec Street, Poznan, Poland.
authors.forename: Maciej R
authors.initials: MR
authors.lastname: Krawczynski
authors.affiliation: Poznan University of Medical Sciences, Chair and Department of Medical Genetics, Rokietnicka 8 Street, 60-806 Poznan, Poland; Center for Medical Genetics GENESIS, 4 Grudzieniec Street, Poznan, Poland.
authors.forename: Aleksander
authors.initials: A
authors.lastname: Jamsheer
authors.affiliation: Poznan University of Medical Sciences, Chair and Department of Medical Genetics, Rokietnicka 8 Street, 60-806 Poznan, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Sowinska-Seidler
authors.affiliation: Ludwik Rydygier's Provincial Hospital in Torun, Children's Hospital, Division of Pediatrics, Pediatric Endocrinology and Pediatric Neurology, 42 Konstytucji 3 Maja Street, 87-100 Torun, Poland.
authors.forename: Barbara
authors.initials: B
authors.lastname: Iwaniszewska
authors.affiliation: The Children's Memorial Health Institute, Department of Laboratory Diagnostics, 20 Al. Dzieci Polskich, 04-736 Warsaw, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Malunowicz
authors.affiliation: Poznan University of Medical Sciences, 2nd Chair of Pediatrics, Department of Pediatric Endocrinology and Rheumatology, 27/33 Szpitalna Street, 60-572 Poznan, Poland; Karol Jonscher's Clinical Hospital, 27/33 Szpitalna Street, 60-572 Poznan, Poland.
authors.forename: Marek
authors.identifier: 0000-0001-8862-6937
authors.initials: M
authors.lastname: Niedziela