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INTELLECTUAL DEVELOPMENTAL DISORDER AND HYPOGONADOTROPIC HYPOGONADISM(IDDHH)

MedGen UID:
978769
Concept ID:
CN296785
Disease or Syndrome
Synonym: IDDHH
 
Gene (location): CPE (4q32.3)
 
OMIM®: 619326

Definition

Intellectual developmental disorder and hypogonadotropic hypogonadism (IDDHH) is an autosomal recessive disorder characterized by obesity, impaired intellectual development, and hypogonadotropic hypogonadism. Variable features include central hypothyroidism, hypotonia, and developmental delay (Alsters et al., 2015; Durmaz et al., 2020). [from OMIM]

Recent clinical studies

Etiology

Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM
Hum Mutat 2017 Apr;38(4):409-425. Epub 2017 Jan 23 doi: 10.1002/humu.23170. PMID: 28055140Free PMC Article
Battini R, Bertelloni S, Astrea G, Casarano M, Travaglini L, Baroncelli G, Pasquariello R, Bertini E, Cioni G
BMC Med Genet 2015 Jul 25;16:53. doi: 10.1186/s12881-015-0203-0. PMID: 26204956Free PMC Article
Binder G, Schweizer R, Haber P, Blumenstock G, Braun R
J Pediatr 2015 Sep;167(3):674-8.e1. Epub 2015 Jun 18 doi: 10.1016/j.jpeds.2015.05.039. PMID: 26095287
Radicioni AF, Di Giorgio G, Grugni G, Cuttini M, Losacco V, Anzuini A, Spera S, Marzano C, Lenzi A, Cappa M, Crinò A
Clin Endocrinol (Oxf) 2012 Jan;76(1):72-7. doi: 10.1111/j.1365-2265.2011.04161.x. PMID: 21718342
Frighi V, Stephenson MT, Morovat A, Jolley IE, Trivella M, Dudley CA, Anand E, White SJ, Hammond CV, Hockney RA, Barrow B, Shakir R, Goodwin GM
Br J Psychiatry 2011 Oct;199(4):289-95. doi: 10.1192/bjp.bp.110.085670. PMID: 21816867

Diagnosis

Özcabı B, Vatansever M, Güven A
Cleft Palate Craniofac J 2021 Jun;58(6):787-790. Epub 2020 Oct 27 doi: 10.1177/1055665620967601. PMID: 33107323
Xu W, Plummer L, Quinton R, Swords F, Crowley WF, Seminara SB, Balasubramanian R
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a005033. PMID: 32376645Free PMC Article
Binder G, Schweizer R, Haber P, Blumenstock G, Braun R
J Pediatr 2015 Sep;167(3):674-8.e1. Epub 2015 Jun 18 doi: 10.1016/j.jpeds.2015.05.039. PMID: 26095287
Hickey SE, Walters-Sen L, Mosher TM, Pfau RB, Pyatt R, Snyder PJ, Sotos JF, Prior TW
Am J Med Genet A 2013 Sep;161A(9):2294-9. Epub 2013 Jul 29 doi: 10.1002/ajmg.a.36034. PMID: 23897859
Aminzadeh M, Kim HG, Layman LC, Cheetham TD
Front Horm Res 2010;39:154-167. Epub 2010 Apr 8 doi: 10.1159/000312701. PMID: 20389093

Therapy

Zhang X, Fan Y, Liu X, Zhu MA, Sun Y, Yan H, He Y, Ye X, Gu X, Yu Y
J Clin Res Pediatr Endocrinol 2019 Nov 22;11(4):419-425. Epub 2019 Jan 11 doi: 10.4274/jcrpe.galenos.2019.2018.0220. PMID: 30630810Free PMC Article
Frighi V, Morovat A, Andrews TM, Rana F, Stephenson MT, White SJ, Fower E, Roast J, Goodwin GM
J Intellect Disabil Res 2019 Apr;63(4):357-367. Epub 2018 Dec 19 doi: 10.1111/jir.12581. PMID: 30569589
Frighi V, Stephenson MT, Morovat A, Jolley IE, Trivella M, Dudley CA, Anand E, White SJ, Hammond CV, Hockney RA, Barrow B, Shakir R, Goodwin GM
Br J Psychiatry 2011 Oct;199(4):289-95. doi: 10.1192/bjp.bp.110.085670. PMID: 21816867
Eldar-Geva T, Hirsch HJ, Rabinowitz R, Benarroch F, Rubinstein O, Gross-Tsur V
Horm Res 2009;72(3):153-9. Epub 2009 Sep 1 doi: 10.1159/000232489. PMID: 19729946
Arvio M, Kilpinen-Loisa P, Tiitinen A, Huovinen K, Mäkitie O
Acta Obstet Gynecol Scand 2009;88(4):428-33. doi: 10.1080/00016340902763244. PMID: 19330573

Prognosis

Verberne EA, Dalen Meurs L, Wolf NI, van Haelst MM
Am J Med Genet A 2020 Jul;182(7):1776-1779. Epub 2020 Apr 22 doi: 10.1002/ajmg.a.61600. PMID: 32319736Free PMC Article
Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M; DDD Study., van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M
Am J Hum Genet 2016 Oct 6;99(4):934-941. Epub 2016 Sep 8 doi: 10.1016/j.ajhg.2016.08.001. PMID: 27616479Free PMC Article
Battini R, Bertelloni S, Astrea G, Casarano M, Travaglini L, Baroncelli G, Pasquariello R, Bertini E, Cioni G
BMC Med Genet 2015 Jul 25;16:53. doi: 10.1186/s12881-015-0203-0. PMID: 26204956Free PMC Article
Terao Y, Saitsu H, Segawa M, Kondo Y, Sakamoto K, Matsumoto N, Tsuji S, Nomura Y
J Neurol Sci 2012 Sep 15;320(1-2):102-5. Epub 2012 Jul 21 doi: 10.1016/j.jns.2012.07.005. PMID: 22819058
Aminzadeh M, Kim HG, Layman LC, Cheetham TD
Front Horm Res 2010;39:154-167. Epub 2010 Apr 8 doi: 10.1159/000312701. PMID: 20389093

Clinical prediction guides

Endrakanti M, Saluja S, Ethayathulla AS, Sapra S, Dalal A, Palanichamy JK, Gupta N
Eur J Med Genet 2021 Aug;64(8):104261. Epub 2021 Jun 10 doi: 10.1016/j.ejmg.2021.104261. PMID: 34119699
Özcabı B, Vatansever M, Güven A
Cleft Palate Craniofac J 2021 Jun;58(6):787-790. Epub 2020 Oct 27 doi: 10.1177/1055665620967601. PMID: 33107323
Battini R, Bertelloni S, Astrea G, Casarano M, Travaglini L, Baroncelli G, Pasquariello R, Bertini E, Cioni G
BMC Med Genet 2015 Jul 25;16:53. doi: 10.1186/s12881-015-0203-0. PMID: 26204956Free PMC Article
Beneduzzi D, Iyer AK, Trarbach EB, Silveira-Neto AP, Silveira LG, Tusset C, Yip K, Mendonça BB, Mellon PL, Latronico AC
Eur J Endocrinol 2011 Jul;165(1):145-50. Epub 2011 May 4 doi: 10.1530/EJE-11-0199. PMID: 21543378Free PMC Article
Aminzadeh M, Kim HG, Layman LC, Cheetham TD
Front Horm Res 2010;39:154-167. Epub 2010 Apr 8 doi: 10.1159/000312701. PMID: 20389093

Recent systematic reviews

Agopiantz M, Corbonnois P, Sorlin A, Bonnet C, Klein M, Hubert N, Pascal-Vigneron V, Jonveaux P, Cuny T, Leheup B, Weryha G
J Endocrinol Invest 2014 Jan;37(1):1-7. Epub 2014 Jan 8 doi: 10.1007/s40618-013-0001-5. PMID: 24464444
Mansfield C, Hopfer S, Marteau TM
Prenat Diagn 1999 Sep;19(9):808-12. PMID: 10521836

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