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Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume

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dc.contributor.authorŞAHİN, BAHADIR
dc.contributor.authorDEMİRCİOĞLU, SERAP
dc.contributor.authorBEREKET, ABDULLAH
dc.contributor.authorGÜRAN, TÜLAY
dc.contributor.authorsArslan Ateş E., Eltan M., Sahin B., Gurpinar Tosun B., Seven Menevse T., Geckinli B. B., Greenfield A., Turan S., Bereket A., Güran T.
dc.date.accessioned2023-03-06T11:17:07Z
dc.date.available2023-03-06T11:17:07Z
dc.date.issued2022-03-23
dc.description.abstractBackground: The human INHA gene encodes the inhibin subunit alpha protein, which is common to both inhibin A and B. The functional importance of inhibins in male sex development, sexual function, and reproduction remain largely unknown. Objective: We report for the first time two male siblings with homozygous INHA mutations. Methods: The medical files were examined for clinical, biochemical, and imaging data. Genetic analysis was performed using next-generation and Sanger sequencing methods. Results: Two brothers complained of gynecomastia, testicular pain, and had a history of hypospadias. Biochemistry revealed low serum testosterone, high gonadotropin and anti-Mullerian hormone, and very low/undetectable inhibin concentrations, where available. Both patients had azoospermia in the spermiogram. We have identified a homozygous 2 bp deletion (c.208_209delAG, R70Gfs*3) variant, which leads to a truncated INHA protein in both patients, and confirmed heterozygosity in the parents. The external genital development, pubertal onset and progression, reproductive functions, serum gonadotropins, and sex hormones of mother and father, who were heterozygous carriers of the identified mutation, were normal. Conclusion: Homozygosity for INHA mutations causes decreased prenatal and postnatal testosterone production and infertility in males, while the heterozygous female and male carriers of INHA mutations do not have any abnormality in sex development and reproduction.
dc.identifier.citationArslan Ateş E., Eltan M., Sahin B., Gurpinar Tosun B., Seven Menevse T., Geckinli B. B., Greenfield A., Turan S., Bereket A., Güran T., "Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume.", European journal of endocrinology, cilt.186, sa.5, 2022
dc.identifier.doi10.1530/eje-21-1230
dc.identifier.issn0804-4643
dc.identifier.issue5
dc.identifier.urihttps://avesis.marmara.edu.tr/api/publication/d265edc6-1158-46f7-b906-cff8edf83c3a/file
dc.identifier.urihttps://hdl.handle.net/11424/287187
dc.identifier.volume186
dc.language.isoeng
dc.relation.ispartofEuropean journal of endocrinology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectPediatrik Endokrinoloji ve Metabolizma
dc.subjectSağlık Bilimleri
dc.subjectMedicine
dc.subjectInternal Medicine Sciences
dc.subjectChild Health and Diseases
dc.subjectPediatric Endocrinology and Metabolism
dc.subjectHealth Sciences
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectPEDİATRİ
dc.subjectTIP, GENEL & DAHİLİ
dc.subjectClinical Medicine (MED)
dc.subjectCLINICAL MEDICINE
dc.subjectPEDIATRICS
dc.subjectMEDICINE, GENERAL & INTERNAL
dc.subjectGenel Sağlık Meslekleri
dc.subjectPediatri
dc.subjectPatofizyoloji
dc.subjectTemel Bilgi ve Beceriler
dc.subjectDeğerlendirme ve Teşhis
dc.subjectPediatri, Perinatoloji ve Çocuk Sağlığı
dc.subjectDahiliye
dc.subjectAile Sağlığı
dc.subjectTıp (çeşitli)
dc.subjectGenel Tıp
dc.subjectGeneral Health Professions
dc.subjectPediatrics
dc.subjectPathophysiology
dc.subjectFundamentals and Skills
dc.subjectAssessment and Diagnosis
dc.subjectPediatrics, Perinatology and Child Health
dc.subjectInternal Medicine
dc.subjectFamily Practice
dc.subjectMedicine (miscellaneous)
dc.subjectGeneral Medicine
dc.titleHomozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume
dc.typearticle
dspace.entity.typePublication
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local.indexed.atWOS
local.indexed.atPUBMED
local.indexed.atSCOPUS
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relation.isAuthorOfPublication.latestForDiscovery760d51f6-38cf-4476-bd7a-0bedb45ac86f

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