{"title":"Menopause as a critical window for cardiovascular-kidney-metabolic syndrome prevention: a call for integrated women's health approaches.","authors":"Sanu Aleyamma Thomas, Punith Kempegowda, Eleni Armeni","doi":"10.1080/09513590.2025.2589608","DOIUrl":"https://doi.org/10.1080/09513590.2025.2589608","url":null,"abstract":"","PeriodicalId":12865,"journal":{"name":"Gynecological Endocrinology","volume":"41 1","pages":"2589608"},"PeriodicalIF":1.7,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145632633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-31Epub Date: 2025-12-11DOI: 10.1080/09513590.2025.2594876
Muqing Gu, Xiangyan Ruan, Yanqiu Li, Chanwei Jia, Yinmei Dai
Objective: To evaluate the effect of oral contraceptive (OC) pretreatment on in vitro fertilization (IVF) outcomes in women with polycystic ovary syndrome (PCOS) undergoing the GnRH agonist (GnRH-a) long protocol, compared with other ovarian stimulation protocols.
Methods: This retrospective study included 121 women with PCOS, diagnosed according to the Rotterdam criteria, who underwent IVF/intracytoplasmic sperm injection (IVF/ICSI) between January and September 2018 at Beijing Obstetrics and Gynecology Hospital. Patients were assigned to one of four protocols: the OC pretreatment + GnRH-a long protocol (three cycles of OC), the standard GnRH-a long protocol, the GnRH antagonist protocol, or the GnRH-a ultralong protocol. Ovarian stimulation characteristics, embryo development, and clinical outcomes were compared among the groups.
Results: The GnRH-a ultralong protocol required significantly higher total Gn doses and longer stimulation duration than the OC + GnRH-a long protocol. Compared with the standard GnRH-a long protocol, OC pretreatment showed trends toward lower rates of moderate-to-severe ovarian hyperstimulation syndrome (OHSS) and higher biochemical and clinical pregnancy rates, though these differences were not statistically significant. No significant differences were observed among the groups for the number of retrieved oocytes, mature oocytes, fertilized oocytes, or normally developing embryos.
Conclusion: In PCOS patients, OC pretreatment showed trends toward higher pregnancy rates and lower OHSS, without adverse effects on clinical outcomes. These findings highlight a potentially promising approach, warranting confirmation in larger, high-quality randomized controlled trials.
{"title":"Effect of oral contraceptive pretreatment on IVF outcomes in women with polycystic ovary syndrome using a long GnRH agonist protocol.","authors":"Muqing Gu, Xiangyan Ruan, Yanqiu Li, Chanwei Jia, Yinmei Dai","doi":"10.1080/09513590.2025.2594876","DOIUrl":"https://doi.org/10.1080/09513590.2025.2594876","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the effect of oral contraceptive (OC) pretreatment on in vitro fertilization (IVF) outcomes in women with polycystic ovary syndrome (PCOS) undergoing the GnRH agonist (GnRH-a) long protocol, compared with other ovarian stimulation protocols.</p><p><strong>Methods: </strong>This retrospective study included 121 women with PCOS, diagnosed according to the Rotterdam criteria, who underwent IVF/intracytoplasmic sperm injection (IVF/ICSI) between January and September 2018 at Beijing Obstetrics and Gynecology Hospital. Patients were assigned to one of four protocols: the OC pretreatment + GnRH-a long protocol (three cycles of OC), the standard GnRH-a long protocol, the GnRH antagonist protocol, or the GnRH-a ultralong protocol. Ovarian stimulation characteristics, embryo development, and clinical outcomes were compared among the groups.</p><p><strong>Results: </strong>The GnRH-a ultralong protocol required significantly higher total Gn doses and longer stimulation duration than the OC + GnRH-a long protocol. Compared with the standard GnRH-a long protocol, OC pretreatment showed trends toward lower rates of moderate-to-severe ovarian hyperstimulation syndrome (OHSS) and higher biochemical and clinical pregnancy rates, though these differences were not statistically significant. No significant differences were observed among the groups for the number of retrieved oocytes, mature oocytes, fertilized oocytes, or normally developing embryos.</p><p><strong>Conclusion: </strong>In PCOS patients, OC pretreatment showed trends toward higher pregnancy rates and lower OHSS, without adverse effects on clinical outcomes. These findings highlight a potentially promising approach, warranting confirmation in larger, high-quality randomized controlled trials.</p>","PeriodicalId":12865,"journal":{"name":"Gynecological Endocrinology","volume":"41 1","pages":"2594876"},"PeriodicalIF":1.7,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145742170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-31Epub Date: 2025-12-14DOI: 10.1080/09513590.2025.2600208
{"title":"Statement of Retraction: The adjuvant effect of metformin and <i>N</i>-acetylcysteine to clomiphene citrate in induction of ovulation in patients with <i>Polycystic Ovary Syndrome</i>.","authors":"","doi":"10.1080/09513590.2025.2600208","DOIUrl":"https://doi.org/10.1080/09513590.2025.2600208","url":null,"abstract":"","PeriodicalId":12865,"journal":{"name":"Gynecological Endocrinology","volume":"41 1","pages":"2600208"},"PeriodicalIF":1.7,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145756175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-31Epub Date: 2025-12-18DOI: 10.1080/09513590.2025.2604354
Pedro-Antonio Regidor, Enrico Colli
{"title":"Comment on Evaluation of the safety profile of prolonged-release EE/DNG oral contraceptives: a critical appraisal.","authors":"Pedro-Antonio Regidor, Enrico Colli","doi":"10.1080/09513590.2025.2604354","DOIUrl":"https://doi.org/10.1080/09513590.2025.2604354","url":null,"abstract":"","PeriodicalId":12865,"journal":{"name":"Gynecological Endocrinology","volume":"42 1","pages":"2604354"},"PeriodicalIF":1.7,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145774399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective: We aimed to identify independent predictors of ongoing pregnancy in patients undergoing mild-OS FET cycles, focusing on follicular phase characteristics and luteal support regimens.
Methods: In this multicenter, retrospective cohort study conducted between January 2021 and August 2024 across Bahceci in vitro fertilization (IVF) centers in Türkiye, 489 FET cycles with mild-OS using letrozole were analyzed. Biochemical and ongoing pregnancy outcomes were assessed in relation to demographic characteristics, ovarian stimulation parameters, ovulation triggering strategies, and LPS approaches. Multivariate logistic regression was used to determine independent predictors.
Results: The overall biochemical and ongoing pregnancy rates were 58.5% and 43.4%, respectively. Subcutaneous progesterone (with or without vaginal route) improved biochemical pregnancy rates compared to vaginal-only LPS (67.1% vs. 52.7%, p = 0.008), although this did not translate into significantly higher ongoing pregnancy rates. In adjusted models, only younger female age (OR = 0.94, 95% CI: 0.90 to 0.99, p = 0.01) and a higher number of embryos transferred (OR = 2.00, 95% CI: 1.16 to 3.45, p = 0.01) were independently associated with ongoing pregnancy. Follicular diameter, number of follicles >10 mm, estradiol and LH levels, or triggering with hCG did not significantly impact outcomes.
Conclusion: In mild-OS FET cycles, while subcutaneous progesterone support may improve early implantation outcomes, ongoing pregnancy is primarily influenced by female age and embryo number. These findings support a flexible approach to LPS and triggering in mild-OS protocols without compromising clinical success.
{"title":"The assessment of demographic features, follicular phase parameters, and luteal support in mild stimulation frozen embryo transfer cycles for optimal ongoing pregnancy outcome.","authors":"Gurkan Bozdag, Fazilet Kubra Boynukalin, Berfu Demir, Meral Gültomruk, Mustafa Bahceci","doi":"10.1080/09513590.2025.2604865","DOIUrl":"10.1080/09513590.2025.2604865","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to identify independent predictors of ongoing pregnancy in patients undergoing mild-OS FET cycles, focusing on follicular phase characteristics and luteal support regimens.</p><p><strong>Methods: </strong>In this multicenter, retrospective cohort study conducted between January 2021 and August 2024 across Bahceci <i>in vitro</i> fertilization (IVF) centers in Türkiye, 489 FET cycles with mild-OS using letrozole were analyzed. Biochemical and ongoing pregnancy outcomes were assessed in relation to demographic characteristics, ovarian stimulation parameters, ovulation triggering strategies, and LPS approaches. Multivariate logistic regression was used to determine independent predictors.</p><p><strong>Results: </strong>The overall biochemical and ongoing pregnancy rates were 58.5% and 43.4%, respectively. Subcutaneous progesterone (with or without vaginal route) improved biochemical pregnancy rates compared to vaginal-only LPS (67.1% vs. 52.7%, <i>p</i> = 0.008), although this did not translate into significantly higher ongoing pregnancy rates. In adjusted models, only younger female age (OR = 0.94, 95% CI: 0.90 to 0.99, <i>p</i> = 0.01) and a higher number of embryos transferred (OR = 2.00, 95% CI: 1.16 to 3.45, <i>p</i> = 0.01) were independently associated with ongoing pregnancy. Follicular diameter, number of follicles >10 mm, estradiol and LH levels, or triggering with hCG did not significantly impact outcomes.</p><p><strong>Conclusion: </strong>In mild-OS FET cycles, while subcutaneous progesterone support may improve early implantation outcomes, ongoing pregnancy is primarily influenced by female age and embryo number. These findings support a flexible approach to LPS and triggering in mild-OS protocols without compromising clinical success.</p>","PeriodicalId":12865,"journal":{"name":"Gynecological Endocrinology","volume":"42 1","pages":"2604865"},"PeriodicalIF":1.7,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145781103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-31Epub Date: 2025-10-05DOI: 10.1080/09513590.2025.2565256
Wei Han, Yanliang Song, Yiwen Xu, Fen Zhou, Li Gao, Xibing Wang
Gestational diabetes mellitus (GDM) is a common pregnancy complication with rising incidence and adverse maternal-fetal outcomes. Genetic polymorphisms in folate metabolism genes may influence GDM susceptibility through homocysteine pathway alterations. To investigate the associations between MTHFR (C677T, A1298C) and MTRR (A66G) polymorphisms and GDM risk, including gene‒gene interactions, in Chinese Han pregnant women, this retrospective cohort study analyzed 1312 Chinese Han pregnant women. The MTHFR C677T, A1298C, and MTRR A66G polymorphisms were genotyped using allele-specific PCR. Polymorphism-GDM associations were assessed using logistic regression, adjusting for maternal age, prepregnancy BMI, and folate intake. Gene‒gene interactions were evaluated using multiplicative interaction models. After confounder adjustment, the MTHFR 677TT genotype was associated with GDM (OR 1.89, 95% CI 1.24-2.93) compared to wild-type. The MTRR 66AG and 66GG genotypes were associated with GDM, with ORs of 2.73 (95% CI: 1.93-3.89) and 3.10 (95% CI: 1.72-5.41), respectively. Significant gene‒gene interactions were observed between MTHFR C677T & A1298C (OR 2.22, 95% CI 1.25-4.23 for TT/AA combination) and MTHFR C677T & MTRR A66G (OR 6.06, 95% CI 3.48-14.10 for TT/AG combination), indicating synergistic effects that surpass the expected multiplicative combination of individual polymorphism effects. MTHFR C677T and MTRR A66G polymorphisms independently and interactively increase GDM odds in Chinese Han women, enabling personalized risk prediction and targeted prevention.
{"title":"Association analysis of MTHFR (C677T, A1298C) and MTRR (A66G) gene polymorphisms on susceptibility to gestational diabetes mellitus in Chinese pregnant women.","authors":"Wei Han, Yanliang Song, Yiwen Xu, Fen Zhou, Li Gao, Xibing Wang","doi":"10.1080/09513590.2025.2565256","DOIUrl":"10.1080/09513590.2025.2565256","url":null,"abstract":"<p><p>Gestational diabetes mellitus (GDM) is a common pregnancy complication with rising incidence and adverse maternal-fetal outcomes. Genetic polymorphisms in folate metabolism genes may influence GDM susceptibility through homocysteine pathway alterations. To investigate the associations between MTHFR (C677T, A1298C) and MTRR (A66G) polymorphisms and GDM risk, including gene‒gene interactions, in Chinese Han pregnant women, this retrospective cohort study analyzed 1312 Chinese Han pregnant women. The MTHFR C677T, A1298C, and MTRR A66G polymorphisms were genotyped using allele-specific PCR. Polymorphism-GDM associations were assessed using logistic regression, adjusting for maternal age, prepregnancy BMI, and folate intake. Gene‒gene interactions were evaluated using multiplicative interaction models. After confounder adjustment, the MTHFR 677TT genotype was associated with GDM (OR 1.89, 95% CI 1.24-2.93) compared to wild-type. The MTRR 66AG and 66GG genotypes were associated with GDM, with ORs of 2.73 (95% CI: 1.93-3.89) and 3.10 (95% CI: 1.72-5.41), respectively. Significant gene‒gene interactions were observed between MTHFR C677T & A1298C (OR 2.22, 95% CI 1.25-4.23 for TT/AA combination) and MTHFR C677T & MTRR A66G (OR 6.06, 95% CI 3.48-14.10 for TT/AG combination), indicating synergistic effects that surpass the expected multiplicative combination of individual polymorphism effects. MTHFR C677T and MTRR A66G polymorphisms independently and interactively increase GDM odds in Chinese Han women, enabling personalized risk prediction and targeted prevention.</p>","PeriodicalId":12865,"journal":{"name":"Gynecological Endocrinology","volume":"41 1","pages":"2565256"},"PeriodicalIF":1.7,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145232480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-31Epub Date: 2025-09-17DOI: 10.1080/09513590.2025.2559650
Julia K Bosdou, Christos A Venetis, Panagiotis Anagnostis, Efstratios M Kolibianakis
{"title":"Testosterone in IVF: hype or hope for low responders?","authors":"Julia K Bosdou, Christos A Venetis, Panagiotis Anagnostis, Efstratios M Kolibianakis","doi":"10.1080/09513590.2025.2559650","DOIUrl":"https://doi.org/10.1080/09513590.2025.2559650","url":null,"abstract":"","PeriodicalId":12865,"journal":{"name":"Gynecological Endocrinology","volume":"41 1","pages":"2559650"},"PeriodicalIF":1.7,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145080497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-31Epub Date: 2025-10-14DOI: 10.1080/09513590.2025.2566993
Kurt Appel, Peter Chedraui, Rossella E Nappi, Santiago Palacios, Andrea R Genazzani, Tommaso Simoncini
Background: Women during hormonal transitional phases present an increase in mood disturbances. Recently, purified and specific cytoplasmic pollen extract (PureCyTonin®), a natural non-hormonal alternative, has proven to be effective to treat symptoms during perimenopause, and menopause especially vasomotor ones. However, its effects on mood disturbances still need further study.
Objective: To investigate the potential in vitro effects of the pollen extract on dopaminergic and GABAergic systems in order to be proposed as an alternative to treat symptomatic midlife women and other brain-related symptoms.
Method: In vitro experiments were performed to evaluate the effects of pollen extract on dopamine and GABA uptake, as well as GABAA and dopamine D2S receptor binding.
Results: Pollen extract inhibited both dopamine and GABA uptake in a concentration-dependent manner (mean IC₅₀ = 79.5 µg/mL and 137 µg/mL, respectively). It also displaced [³H]-muscimol from GABAA receptors, suggesting potential allosteric modulation. Contrary to this, pollen extract showed moderate affinity for D2S receptors (≥1000 µg/mL). These mechanisms might enhance neurotransmitter tone in hormone-sensitive brain regions.
Conclusion: Purified and specific pollen extract modulates dopaminergic and GABAergic systems in vitro and help restore neurochemical balance across hormonal transitions, supporting its non-hormonal beneficial role in managing mood, sleep, and somatic symptoms with a safety profile. There is a need for further research in this regard in the clinical setting.
{"title":"The <i>in vitro</i> effects of purified and specific cytoplasmic pollen extract on dopaminergic and GABAergic systems.","authors":"Kurt Appel, Peter Chedraui, Rossella E Nappi, Santiago Palacios, Andrea R Genazzani, Tommaso Simoncini","doi":"10.1080/09513590.2025.2566993","DOIUrl":"https://doi.org/10.1080/09513590.2025.2566993","url":null,"abstract":"<p><strong>Background: </strong>Women during hormonal transitional phases present an increase in mood disturbances. Recently, purified and specific cytoplasmic pollen extract (PureCyTonin®), a natural non-hormonal alternative, has proven to be effective to treat symptoms during perimenopause, and menopause especially vasomotor ones. However, its effects on mood disturbances still need further study.</p><p><strong>Objective: </strong>To investigate the potential <i>in vitro</i> effects of the pollen extract on dopaminergic and GABAergic systems in order to be proposed as an alternative to treat symptomatic midlife women and other brain-related symptoms.</p><p><strong>Method: </strong><i>In vitro</i> experiments were performed to evaluate the effects of pollen extract on dopamine and GABA uptake, as well as GABA<sub>A</sub> and dopamine D<sub>2S</sub> receptor binding.</p><p><strong>Results: </strong>Pollen extract inhibited both dopamine and GABA uptake in a concentration-dependent manner (mean IC₅₀ = 79.5 µg/mL and 137 µg/mL, respectively). It also displaced [³H]-muscimol from GABA<sub>A</sub> receptors, suggesting potential allosteric modulation. Contrary to this, pollen extract showed moderate affinity for D<sub>2S</sub> receptors (≥1000 µg/mL). These mechanisms might enhance neurotransmitter tone in hormone-sensitive brain regions.</p><p><strong>Conclusion: </strong>Purified and specific pollen extract modulates dopaminergic and GABAergic systems <i>in vitro</i> and help restore neurochemical balance across hormonal transitions, supporting its non-hormonal beneficial role in managing mood, sleep, and somatic symptoms with a safety profile. There is a need for further research in this regard in the clinical setting.</p>","PeriodicalId":12865,"journal":{"name":"Gynecological Endocrinology","volume":"41 1","pages":"2566993"},"PeriodicalIF":1.7,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145286052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-31Epub Date: 2025-10-17DOI: 10.1080/09513590.2025.2571656
Miao Sun, Yan Liu, Maolin Liu, Zhongyao Zeng, Chengjun Yu, Rong Han, Long Chen, Shengde Wu
Objective: Congenital hypogonadotropic hypogonadism (CHH) is a rare condition characterized by incomplete pubertal development, infertility, and gonadotropin-releasing hormone deficiency, associated with mutations in more than 50 genes. We aimed to conduct an etiological analysis of a CHH Chinese family and summarize the clinical presentations and genetic changes of reported similar cases.
Methods: Whole-exome sequencing (WES) was performed to identify the molecular cause in the proband. In silico tools were employed to analyze the pathogenicity of the variants. Reported cases with similar clinical features and associated genes were summarized by searching through PubMed/MEDLINE using keywords 'FGFR1,' 'CHH,' and 'Kallmann syndrome (KS).'
Results: Genetic analysis revealed a novel likely pathogenic deletion mutation in the FGFR1 gene (NM_023110.3: c.263_264del (Val88Alafs*22)) in a Chinese family exhibiting micropenis and underdeveloped testes. A total of 38 cases with CHH or KS have been previously reported.
Conclusion: This study identified a novel FGFR1 deletion variant responsible for CHH, expanding the known mutational spectrum of FGFR1. Typical manifestations include delayed puberty and diverse presentations. The genotype-phenotype correlation in CHH remains unclear and may involve oligogenic effects and epigenetic regulation.
{"title":"FGFR1-related congenital hypogonadotropic hypogonadism: a case report and literature review.","authors":"Miao Sun, Yan Liu, Maolin Liu, Zhongyao Zeng, Chengjun Yu, Rong Han, Long Chen, Shengde Wu","doi":"10.1080/09513590.2025.2571656","DOIUrl":"10.1080/09513590.2025.2571656","url":null,"abstract":"<p><strong>Objective: </strong>Congenital hypogonadotropic hypogonadism (CHH) is a rare condition characterized by incomplete pubertal development, infertility, and gonadotropin-releasing hormone deficiency, associated with mutations in more than 50 genes. We aimed to conduct an etiological analysis of a CHH Chinese family and summarize the clinical presentations and genetic changes of reported similar cases.</p><p><strong>Methods: </strong>Whole-exome sequencing (WES) was performed to identify the molecular cause in the proband. In silico tools were employed to analyze the pathogenicity of the variants. Reported cases with similar clinical features and associated genes were summarized by searching through PubMed/MEDLINE using keywords 'FGFR1,' 'CHH,' and 'Kallmann syndrome (KS).'</p><p><strong>Results: </strong>Genetic analysis revealed a novel likely pathogenic deletion mutation in the FGFR1 gene (NM_023110.3: c.263_264del (Val88Alafs*22)) in a Chinese family exhibiting micropenis and underdeveloped testes. A total of 38 cases with CHH or KS have been previously reported.</p><p><strong>Conclusion: </strong>This study identified a novel FGFR1 deletion variant responsible for CHH, expanding the known mutational spectrum of FGFR1. Typical manifestations include delayed puberty and diverse presentations. The genotype-phenotype correlation in CHH remains unclear and may involve oligogenic effects and epigenetic regulation.</p>","PeriodicalId":12865,"journal":{"name":"Gynecological Endocrinology","volume":"41 1","pages":"2571656"},"PeriodicalIF":1.7,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}