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Keywords: Hypergonadotropic hypogonadism
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Journal Articles

NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes

Free
Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Maria F. Faienza, Mariangela Chiarito, Fulvia Baldinotti, Domenico Canale, Carmela Savino, Guglielmo Paradies, Domenico Corica, Carmelo Romeo, Nina Tyutyusheva, Maria A. Caligo, Malgorzata G. Wasniewska, Silvano Bertelloni
Journal: Sexual Development
Sex Dev (2020) 13 (5-6): 258–263.
https://doi.org/10.1159/000507411
Published Online: 09 November 2020
... unrelated families are reported. All subjects presented with hypergonadotropic hypogonadism and abnormal pubertal progression. Markers of Sertoli cell function were more affected than those of Leydig cell function. Genetic investigation demonstrated the presence of different heterozygous NR5A1 genetic...
View articletitled, NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes
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Journal Articles

A Follow-Up from Infancy to Puberty in a Japanese Male with SRY -Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1

Available to Purchase
Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Akiko Saito-Hakoda, Junko Kanno, Dai Suzuki, Sayaka Kawashima, Miki Kamimura, Koji Hirano, Kiyohide Sakai, Maki Igarashi, Maki Fukami, Ikuma Fujiwara
Journal: Sexual Development
Sex Dev (2019) 13 (2): 60–66.
https://doi.org/10.1159/000496777
Published Online: 09 February 2019
... the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed. More clinical cases will be needed to fully understand the effects of the p.Arg92Trp mutation on the ability to maintain testosterone secretion in 46,XX testicular DSD. akos...
View articletitled, A Follow-Up from Infancy to Puberty in a Japanese Male with SRY -Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1
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Journal Articles

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family

Available to Purchase
Subject Area:
Endocrinology , Further Areas , Genetics , Pathology and Cell Biology , Women's and Children's Health
Monica M. França, Antonio M. Lerario, Mariana F.A. Funari, Mirian Y. Nishi, Amanda M. Narcizo, Maricilda P. de Mello, Gil Guerra-Junior, Andrea T. Maciel-Guerra, Berenice B. Mendonça
Journal: Sexual Development
Sex Dev (2017) 11 (3): 137–142.
https://doi.org/10.1159/000477193
Published Online: 08 June 2017
...Monica M. França; Antonio M. Lerario; Mariana F.A. Funari; Mirian Y. Nishi; Amanda M. Narcizo; Maricilda P. de Mello; Gil Guerra-Junior; Andrea T. Maciel-Guerra; Berenice B. Mendonça Hypergonadotropic hypogonadism (HH) is defined by increased gonadotropin levels in men and women. Primary ovarian...
View articletitled, A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family
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