Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Genetics of congenital hypogonadotropic hypogonadism in Denmark

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Increases in bioactive IGF do not parallel increases in total IGF-I during growth hormone treatment of children born SGA

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Semen quality in hypogonadal acromegalic patients

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. A Polygenic Risk Score Suggests Shared Genetic Architecture of Voice Break With Early Markers of Pubertal Onset in Boys

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Sex-specific estrogen levels and reference intervals from infancy to late adulthood determined by LC-MS/MS

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. The External Genitalia Score (EGS): A European multicenter validation study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by incomplete/absent puberty caused by deficiency or defective action of gonadotropin-releasing hormone (GnRH). The phenotypic features of patients with CHH vary from genital hypoplasia and absent puberty to reversal of HH later in life. We examined the genetics and clinical features of CHH in Denmark. Forty-one male patients were screened for mutations in KAL1, FGFR1, FGF8, PROK2, PROKR2, GNRHR, TAC3, TACR3, and KISS1R. CHD7 was screened in two patients with hearing loss. In 12 patients, a molecular genetic cause for CHH was found. Four patients had mutations in KAL1 (C105VfsX13, C53X, ex5-8del, R257X), and five in FGFR1 (G97S, R209C, A512V, R646W, and c.1614C>T, (p.I538I), predicted to affect splicing). All 9 had severe HH (cryptorchidism and/or micropenis), and 2 had cleft lip/palate. One patient with a previously reported homozygous R262Q mutation in GNRHR displayed fascinating temporal variation in his phenotype. Two patients with hearing loss had CHD7 mutations (c.7832_7841del (p.K2611MfsX25) and c.2443-2A>C), confirming that CHH patients with CHARGE syndrome-associated features should be screened for mutations in CHD7.

OriginalsprogEngelsk
TidsskriftEuropean Journal of Medical Genetics
Vol/bind57
Udgave nummer7
Sider (fra-til)345-8
Antal sider4
ISSN1769-7212
DOI
StatusUdgivet - jul. 2014

ID: 44860389