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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

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
Zhu F, Zhou M, Deng X, Li Y, Xiong J
Front Endocrinol (Lausanne) 2022;13:897069. Epub 2022 Jun 16 doi: 10.3389/fendo.2022.897069. PMID: 35784540Free PMC Article
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
Mohan S, Danda S, Mathai S, Simon A
Natl Med J India 2019 May-Jun;32(3):141-143. doi: 10.4103/0970-258X.278692. PMID: 32129306
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

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
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
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
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
Goodfellow PN, Camerino G
EXS 2001;(91):57-69. PMID: 11301600

Therapy

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
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
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
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
Hamaguchi K, Arikawa M, Yasunaga S, Kakuma T, Fukagawa K, Yanase T, Nawata H, Sakata T
Am J Med Genet 1998 Feb 26;76(1):62-6. doi: 10.1002/(sici)1096-8628(19980226)76:1<62::aid-ajmg11>3.0.co;2-n. PMID: 9508067

Prognosis

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
Ouyang H, Chen B, Wu N, Li L, Du R, Qian M, Yu W, He Y, Liu X
BMC Endocr Disord 2021 Jun 15;21(1):118. doi: 10.1186/s12902-021-00785-8. PMID: 34130666Free PMC Article
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
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
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

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
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
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
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
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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