التفاصيل البيبلوغرافية
| العنوان: |
Table_1_Genetic and phenotypic differences between sexes in congenital hypogonadotropic hypogonadism (CHH): Large cohort analysis from a single tertiary centre.docx |
| المؤلفون: |
Silvia Federici, Biagio Cangiano, Giovanni Goggi, Dario Messetti, Elisabetta Veronica Munari, Myriam Amer, Luca Giovanelli, Faris Hrvat, Valeria Vezzoli, Luca Persani, Marco Bonomi |
| سنة النشر: |
2022 |
| المجموعة: |
Frontiers: Figshare |
| مصطلحات موضوعية: |
Endocrinology, Reproduction, Cell Metabolism, congenital hypogonadotropic hypogonadism (CHH), genetics, female, GnRH (gonadotropin releasing hormone), phenotype [mesh], sex |
| الوصف: |
Background Congenital hypogonadotropic hypogonadism (CHH) is a condition with a strong genetic background, caused by a deficient production, secretion, or action of gonadotropin-releasing hormone (GnRH). Published data on CHH cohorts indicate a male predominance, although this is not supported by our current understandings. Aims In order to unravel the possible causes or contributors to such epidemiological sex difference, the aim of our study is to investigate differences in genetic background and clinical presentation between males and females in a large cohort of CHH patients. Materials and methods We enrolled 338 CHH patients with absent or arrested pubertal development, referred to our Center from 01/2016. Data collection included clinical assessment at diagnosis and genetic analysis performed by next generation sequencing (NGS), employing a custom panel of 28 candidate genes. Results Among 338 patients 94 were female (F) and 244 male (M), with a ratio of 1:2.6. We found that 36.09% (122/338) of patients harbored potentially pathogenic rare genetic variants (RVs) with no significant differences between sexes; on the other hand, a significantly higher frequency of oligogenicity was observed in females (F 9,57% 9/94 vs M 3,69% 9/244, P = 0.034). The prevalence of non-reproductive phenotypic features was significantly higher (P = 0.01) in males (53/228, 23.2%) than in females (10/93, 10.8%): in particular, kidney abnormalities affected only male patients and midline defects had a significantly higher prevalence in males (P = 0.010). Finally, BMI SDS was -0.04 ± 1.09 in females and 0.69 ± 1.51 in males, with a statistically significant difference between groups (P = <0.001). Conclusion Our data confirm the male predominance in CHH and identify some differences with regard to the clinical presentation between males and females that could indicate a variable expression of genetic rare variants and a dimorphic modulation of phenotype according to metabolic/behavioral factors, which will need to be substantiated ... |
| نوع الوثيقة: |
dataset |
| اللغة: |
unknown |
| Relation: |
https://figshare.com/articles/dataset/Table_1_Genetic_and_phenotypic_differences_between_sexes_in_congenital_hypogonadotropic_hypogonadism_CHH_Large_cohort_analysis_from_a_single_tertiary_centre_docx/21664346 |
| DOI: |
10.3389/fendo.2022.965074.s001 |
| الاتاحة: |
https://doi.org/10.3389/fendo.2022.965074.s001
https://figshare.com/articles/dataset/Table_1_Genetic_and_phenotypic_differences_between_sexes_in_congenital_hypogonadotropic_hypogonadism_CHH_Large_cohort_analysis_from_a_single_tertiary_centre_docx/21664346 |
| Rights: |
CC BY 4.0 |
| رقم الانضمام: |
edsbas.87704E41 |
| قاعدة البيانات: |
BASE |