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Hypogonadotropic Hypogonadism with Adrenal Hypoplasia Congenita

MedGen UID:
1379844
•Concept ID:
C4330340
•
Disease or Syndrome

Definition

Hypogonadotropic hypogonadism with congenital adrenal hypoplasia associated with mutation(s) in the NR0B1 gene (on the X chromosome). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypogonadotropic Hypogonadism with Adrenal Hypoplasia Congenita

Recent clinical studies

Etiology

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
Zheng W, Duan Y, Xia Y, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Zhang H, Han L, Gong Z, Xiao B, Qiu W
Orphanet J Rare Dis 2023 May 26;18(1):126. doi: 10.1186/s13023-023-02737-y. PMID: 37237297Free PMC Article
New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images.
Jiang Y, Peng H, Zhao R, Chang Y, Liu J, Fu L, Li L, Ma Y, Li W, Jiang H
Mol Genet Genomic Med 2023 Jun;11(6):e2171. Epub 2023 Apr 28 doi: 10.1002/mgg3.2171. PMID: 37118935Free PMC Article
Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations.
Gupta P, Sharma R, Jain V
Indian J Pediatr 2022 Jun;89(6):587-590. Epub 2022 Mar 1 doi: 10.1007/s12098-021-04055-2. PMID: 35230670
A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.
Wu SM, Gao JZ, He B, Long WJ, Luo XP, Chen L
Curr Med Sci 2020 Feb;40(1):172-177. Epub 2020 Mar 13 doi: 10.1007/s11596-020-2161-9. PMID: 32166680
Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
Jadhav U, Harris RM, Jameson JL
Mol Cell Endocrinol 2011 Oct 22;346(1-2):65-73. Epub 2011 Jun 13 doi: 10.1016/j.mce.2011.04.017. PMID: 21672607Free PMC Article

Diagnosis

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
Zheng W, Duan Y, Xia Y, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Zhang H, Han L, Gong Z, Xiao B, Qiu W
Orphanet J Rare Dis 2023 May 26;18(1):126. doi: 10.1186/s13023-023-02737-y. PMID: 37237297Free PMC Article
Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations.
Gupta P, Sharma R, Jain V
Indian J Pediatr 2022 Jun;89(6):587-590. Epub 2022 Mar 1 doi: 10.1007/s12098-021-04055-2. PMID: 35230670
Disorders of Sexual Development in Adult Women.
Gomez-Lobo V, Amies Oelschlager AM; North American Society for Pediatric and Adolescent Gynecology
Obstet Gynecol 2016 Nov;128(5):1162-1173. doi: 10.1097/AOG.0000000000001672. PMID: 27741188Free PMC Article
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC
Best Pract Res Clin Endocrinol Metab 2015 Aug;29(4):607-19. Epub 2015 Jul 14 doi: 10.1016/j.beem.2015.07.004. PMID: 26303087Free PMC Article
Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
Jadhav U, Harris RM, Jameson JL
Mol Cell Endocrinol 2011 Oct 22;346(1-2):65-73. Epub 2011 Jun 13 doi: 10.1016/j.mce.2011.04.017. PMID: 21672607Free PMC Article

Therapy

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
Zheng W, Duan Y, Xia Y, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Zhang H, Han L, Gong Z, Xiao B, Qiu W
Orphanet J Rare Dis 2023 May 26;18(1):126. doi: 10.1186/s13023-023-02737-y. PMID: 37237297Free PMC Article
Adrenal hypoplasia congenita - an uncommon reason of primary adrenal insufficiency.
Fichna M, Zurawek M, Gut P, Sowiński J, Nowak J
Ann Endocrinol (Paris) 2010 Sep;71(4):309-13. Epub 2010 Jun 12 doi: 10.1016/j.ando.2010.04.003. PMID: 20542258
A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation.
Loke KY, Poh LK, Lee WW, Lai PS
Horm Res 2009;71(5):298-304. Epub 2009 Apr 1 doi: 10.1159/000208804. PMID: 19339795
Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.
Yang F, Hanaki K, Kinoshita T, Kawashima Y, Nagaishi J, Kanzaki S
Eur J Pediatr 2009 Mar;168(3):329-31. Epub 2008 Jul 8 doi: 10.1007/s00431-008-0779-x. PMID: 18607630
X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.
Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF Jr
J Clin Endocrinol Metab 1999 Dec;84(12):4501-9. doi: 10.1210/jcem.84.12.6172. PMID: 10599709

Prognosis

Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita.
Ota T, Katsumata N, Naiki Y, Horikawa R
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1189-1193. Epub 2022 Jul 14 doi: 10.1515/jpem-2022-0120. PMID: 35848959
A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.
Wu SM, Gao JZ, He B, Long WJ, Luo XP, Chen L
Curr Med Sci 2020 Feb;40(1):172-177. Epub 2020 Mar 13 doi: 10.1007/s11596-020-2161-9. PMID: 32166680
Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Qin G, Ji H, Li X, Ma X, Wang D
J Pediatr Endocrinol Metab 2015 Jul;28(7-8):809-14. doi: 10.1515/jpem-2014-0156. PMID: 25968435
A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Battistin C, Menezes Filho HC, Domenice S, Nishi MY, Della Manna T, Kuperman H, Steinmetz L, Dichtchekenian V, Setian N, Damiani D
Arq Bras Endocrinol Metabol 2012 Nov;56(8):496-500. doi: 10.1590/s0004-27302012000800006. PMID: 23295288
Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita.
Fujieda K, Okuhara K, Abe S, Tajima T, Mukai T, Nakae J
J Steroid Biochem Mol Biol 2003 Jun;85(2-5):483-9. doi: 10.1016/s0960-0760(03)00232-2. PMID: 12943739

Clinical prediction guides

New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images.
Jiang Y, Peng H, Zhao R, Chang Y, Liu J, Fu L, Li L, Ma Y, Li W, Jiang H
Mol Genet Genomic Med 2023 Jun;11(6):e2171. Epub 2023 Apr 28 doi: 10.1002/mgg3.2171. PMID: 37118935Free PMC Article
DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.
Mantovani G, De Menis E, Borretta G, Radetti G, Bondioni S, Spada A, Persani L, Beck-Peccoz P
Eur J Endocrinol 2006 May;154(5):685-9. doi: 10.1530/eje.1.02132. PMID: 16645015
Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita.
Fujieda K, Okuhara K, Abe S, Tajima T, Mukai T, Nakae J
J Steroid Biochem Mol Biol 2003 Jun;85(2-5):483-9. doi: 10.1016/s0960-0760(03)00232-2. PMID: 12943739
Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Bassett JH, O'Halloran DJ, Williams GR, Beardwell CG, Shalet SM, Thakker RV
Clin Endocrinol (Oxf) 1999 Jan;50(1):69-75. doi: 10.1046/j.1365-2265.1999.00601.x. PMID: 10341858
Xp duplications and sex reversal.
Zanaria E, Bardoni B, Dabovic B, Calvari V, Fraccaro M, Zuffardi O, Camerino G
Philos Trans R Soc Lond B Biol Sci 1995 Nov 29;350(1333):291-6. doi: 10.1098/rstb.1995.0164. PMID: 8570694

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