| Title: |
Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume. |
| Authors: |
Ates, Esra Arslan1, Eltan, Mehmet2, Sahin, Bahadir3, Tosun, Busra Gurpinar2, Menevse, Tuba Seven2, Geckinli, Bilgen Bilge1, Greenfield, Andy4, Turan, Serap2, Bereket, Abdullah2, Guran, Tulay2 tulayguran@yahoo.com |
| Source: |
European Journal of Endocrinology. May2022, Vol. 186 Issue 5, pK25-K31. 7p. |
| Subject Terms: |
*HOMOZYGOSITY, *ANTI-Mullerian hormone, *OVARIAN reserve, *MALE infertility, *HYPOGONADISM, *SIBLINGS, *GENETIC mutation, *GYNECOMASTIA, *HYPOSPADIAS |
| Abstract: |
Background: 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 azoo spermia 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 exter nal 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 ca rriers of INHA mutations do not have any abnormality in sex development and reproduction. [ABSTRACT FROM AUTHOR] |
|
Copyright of European Journal of Endocrinology is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| Database: |
Academic Search Complete |
