Results 151 to 160 of about 278,652 (177)

Functional Validation and Phenotypic Spectrum of Splice‐Site Variants in CHD7 , FGFR1 , and ANOS1 in Congenital Hypogonadotropic Hypogonadism

Clinical Genetics
To determine the prevalence of CHD7, FGFR1 and ANOS1 variants and the impacts of their splicing variants on mis‐splicing in patients with congenital hypogonadotropic hypogonadism (CHH).
Yuting Li, Pingchuan Zhang, Jun Guan, Chengli He, Jianglan Fu, Ruizhi Zheng, Dan-Na Chen, Xiong Tang, Mei-Chao Men, Zhiheng Chen, Jia-Da Li   +10 more
semanticscholar   +1 more source

Homozygous mutation of KISS1 receptor (KISS1R) gene identified in a Chinese patient with congenital hypogonadotropic hypogonadism (CHH): case report and literature review

Journal of Pediatric Endocrinology & Metabolism (JPEM)
Objectives Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by a defect in the production, secretion or action of gonadotropin-releasing hormone.
Xiao-Qian Chen, Man Hu, T. Du, Lu-Hong Yang, Yakun Li, Lifang Feng, Juan Luo, Hui Yao, Xiao-Hong Chen   +8 more
semanticscholar   +1 more source

Congenital Hypogonadotropic Hypogonadism Caused by Prokineticin Receptor 2 Rare Sequence Variants: Molecular Genetics, Clinical Phenotypes and Therapeutic Outcomes From a Single‐center Cohort

Andrology
Limited data are available regarding the fertility‐inducing treatment outcomes and spermatogenic duration in congenital hypogonadotropic hypogonadism patients carrying prokineticin receptor 2 rare sequence variants.
Yuhan Wang, Wei Zhang, J. Mao, Xi Wang, Hongying Liu, Zhongyue Xu, M. Nie, Xue-Yan Wu   +7 more
semanticscholar   +1 more source

Current Concepts Surrounding Neonatal Hormone Therapy for Boys With Congenital Hypogonadotropic Hypogonadism

Expert Review of Endocrinology and Metabolism, 2022
Du Soon Swee, Richard Quinton
exaly  

What Are the Pharmacological Considerations for Male Congenital Hypogonadotropic Hypogonadism?

Expert Opinion on Pharmacotherapy, 2022
Giulia Rastrelli, Giovanni Corona, Mario Maggi   +2 more
exaly  

Management of Congenital Hypogonadotropic Hypogonadism in Females

Human Fertility, 2023
Cheryl Fitzgerald
exaly  

Novel compound heterozygous NDNF variants in congenital hypogonadotropic hypogonadism: insights into genotype-phenotype correlation and infertility

Molecular Biology Reports
Behzad Haj Mohammad Hassani, Niloofar Ghasemi, Kianoosh Malekzadeh   +2 more
semanticscholar   +1 more source

Reproductive Phenotypes in Men With Acquired or Congenital Hypogonadotropic Hypogonadism: A Comparative Study.

Journal of Clinical Endocrinology and Metabolism, 2022
Philippe Chanson, Sylvie Brailly-Tabard, Luigi Maione   +2 more
exaly  

Novel Rare Variants in FGFR1 and Clinical Characteristics Analysis in a Series of Congenital Hypogonadotropic Hypogonadism Patients

Clinical Endocrinology, 2021
Hongbing Zhang, Min Nie, Bingqing Yu
exaly  

Genetic and Phenotypic Differences Between Sexes in Congenital Hypogonadotropic Hypogonadism (CHH): Large Cohort Analysis From a Single Tertiary Centre

Frontiers in Endocrinology, 2022
exaly