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Deafness-hypogonadism syndrome(DHS)

MedGen UID:
335003
•Concept ID:
C1844680
•
Disease or Syndrome
Synonym: DHS
SNOMED CT: Deafness and hypogonadism syndrome (718714006)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010575
OMIM®: 304350
Orphanet: ORPHA90646

Definition

This syndrome is characterised by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behaviour. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeafness-hypogonadism syndrome
Follow this link to review classifications for Deafness-hypogonadism syndrome in Orphanet.

Professional guidelines

PubMed

International Consensus Statement on Obstructive Sleep Apnea.
Chang JL, Goldberg AN, Alt JA, Mohammed A, Ashbrook L, Auckley D, Ayappa I, Bakhtiar H, Barrera JE, Bartley BL, Billings ME, Boon MS, Bosschieter P, Braverman I, Brodie K, Cabrera-Muffly C, Caesar R, Cahali MB, Cai Y, Cao M, Capasso R, Caples SM, Chahine LM, Chang CP, Chang KW, Chaudhary N, Cheong CSJ, Chowdhuri S, Cistulli PA, Claman D, Collen J, Coughlin KC, Creamer J, Davis EM, Dupuy-McCauley KL, Durr ML, Dutt M, Ali ME, Elkassabany NM, Epstein LJ, Fiala JA, Freedman N, Gill K, Gillespie MB, Golisch L, Gooneratne N, Gottlieb DJ, Green KK, Gulati A, Gurubhagavatula I, Hayward N, Hoff PT, Hoffmann OMG, Holfinger SJ, Hsia J, Huntley C, Huoh KC, Huyett P, Inala S, Ishman SL, Jella TK, Jobanputra AM, Johnson AP, Junna MR, Kado JT, Kaffenberger TM, Kapur VK, Kezirian EJ, Khan M, Kirsch DB, Kominsky A, Kryger M, Krystal AD, Kushida CA, Kuzniar TJ, Lam DJ, Lettieri CJ, Lim DC, Lin HC, Liu SYC, MacKay SG, Magalang UJ, Malhotra A, Mansukhani MP, Maurer JT, May AM, Mitchell RB, Mokhlesi B, Mullins AE, Nada EM, Naik S, Nokes B, Olson MD, Pack AI, Pang EB, Pang KP, Patil SP, Van de Perck E, Piccirillo JF, Pien GW, Piper AJ, Plawecki A, Quigg M, Ravesloot MJL, Redline S, Rotenberg BW, Ryden A, Sarmiento KF, Sbeih F, Schell AE, Schmickl CN, Schotland HM, Schwab RJ, Seo J, Shah N, Shelgikar AV, Shochat I, Soose RJ, Steele TO, Stephens E, Stepnowsky C, Strohl KP, Sutherland K, Suurna MV, Thaler E, Thapa S, Vanderveken OM, de Vries N, Weaver EM, Weir ID, Wolfe LF, Woodson BT, Won CHJ, Xu J, Yalamanchi P, Yaremchuk K, Yeghiazarians Y, Yu JL, Zeidler M, Rosen IM
Int Forum Allergy Rhinol 2023 Jul;13(7):1061-1482. Epub 2023 Mar 30 doi: 10.1002/alr.23079. PMID: 36068685Free PMC Article
Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline.
Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad MH, Silverstein JH, Yanovski JA
J Clin Endocrinol Metab 2017 Mar 1;102(3):709-757. doi: 10.1210/jc.2016-2573. PMID: 28359099Free PMC Article
Clinical practice guideline on diagnosis and treatment of hyponatraemia.
Spasovski G, Vanholder R, Allolio B, Annane D, Ball S, Bichet D, Decaux G, Fenske W, Hoorn EJ, Ichai C, Joannidis M, Soupart A, Zietse R, Haller M, van der Veer S, Van Biesen W, Nagler E; Hyponatraemia Guideline Development Group
Eur J Endocrinol 2014 Mar;170(3):G1-47. Epub 2014 Feb 25 doi: 10.1530/EJE-13-1020. PMID: 24569125

Recent clinical studies

Etiology

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Diagnosis

Scleroderma and scleroderma-like syndromes.
Romanowska-Próchnicka K, Dziewit M, Lesiak A, Reich A, Olesińska M
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Therapy

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The placebo effect in overactive bladder syndrome.
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Prognosis

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Juvenile acanthosis nigricans.
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Dulac O
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The Cohen syndrome.
Fryns JP, Van den Berghe H
J Genet Hum 1981 Dec;29(4):449-53. PMID: 7328419

Clinical prediction guides

Venous Anomalies in Overgrowth Syndromes.
Santiago J, Chaudry G
Tech Vasc Interv Radiol 2024 Jun;27(2):100962. Epub 2024 Jun 14 doi: 10.1016/j.tvir.2024.100962. PMID: 39168551
Molecular Mechanisms Involved in Craniosynostosis.
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In Vivo 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. PMID: 36593018Free PMC Article
Combined and complex vascular malformations.
Clemens RK, Pfammatter T, Meier TO, Alomari AI, Amann-Vesti BR
Vasa 2015 Mar;44(2):92-105. doi: 10.1024/0301-1526/a000414. PMID: 25698387
Genetic generalized epilepsies.
Gallentine WB, Mikati MA
J Clin Neurophysiol 2012 Oct;29(5):408-19. doi: 10.1097/WNP.0b013e31826bd92a. PMID: 23027098
Syndromes of aging.
Frolkis VV
Gerontology 1992;38(1-2):80-6. doi: 10.1159/000213310. PMID: 1612465

Recent systematic reviews

Stroke warning syndrome.
Sales C, Calma AD
Clin Neurol Neurosurg 2022 Feb;213:107120. Epub 2022 Jan 10 doi: 10.1016/j.clineuro.2022.107120. PMID: 35074686
Oral Mucosal Melanoma.
Nisi M, Izzetti R, Gennai S, Pucci A, Lenzi C, Graziani F
J Craniofac Surg 2022 May 1;33(3):830-834. Epub 2021 Jul 30 doi: 10.1097/SCS.0000000000008054. PMID: 34334749
Fear and anxiety managing methods during dental treatments: a systematic review of recent data.
De Stefano R, Bruno A, Muscatello MR, Cedro C, Cervino G, Fiorillo L
Minerva Stomatol 2019 Dec;68(6):317-331. doi: 10.23736/S0026-4970.19.04288-2. PMID: 32052621
Congenital varicella syndrome: A systematic review.
Ahn KH, Park YJ, Hong SC, Lee EH, Lee JS, Oh MJ, Kim HJ
J Obstet Gynaecol 2016 Jul;36(5):563-6. Epub 2016 Mar 10 doi: 10.3109/01443615.2015.1127905. PMID: 26965725
PLATEAU IRIS--DIAGNOSIS AND TREATMENT.
Stefan C, Iliescu DA, Batras M, Timaru CM, De Simone A
Rom J Ophthalmol 2015 Jan-Mar;59(1):14-8. PMID: 27373109Free PMC Article

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