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Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations

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Asian Journal of Andrology 2024年第4期26卷 426-432页

作者： Yu-Fan Yang Hai-Lu Ma Xi Wang Min Nie jiang-feng mao Xue-Yan Wu Department of Endocrinology Peking Union Medical College HospitalChinese Academy of Medical SciencesPeking Union Medical CollegeBeijing 100730China.

Fibroblast growth factor receptor 1(FGFR1)mutations are associated with congenital hypogonadotropic hypogonadism(CHH)through inheritance or spontaneous *** detected FGFR1 mutations in a Chinese cohort of 210 CHH patients at Peking Union Medical College Hospital(Beijing,China)using next-generation and Sanger *** assessed missense variant pathogenicity using six bioinformatics tools and compared clinical features and treatment outcomes between inherited and de novo mutation *** 19 patients with FGFR1 mutations,three were recurrent,and 16 were novel *** of the novel mutations were likely pathogenic according to the American College of Medical Genetics and Genomics(ACMG)guidelines,with the prevalent P366L *** majority of FGFR1 mutations was inherited(57.9%),with frameshift mutations exclusive to the de novo mutation *** inherited mutation group had a lower incidence of cryptorchidism,short stature,and skeletal *** the inherited mutation group,luteinizing hormone(LH)levels were 0.5 IU l−1,follicle-stimulating hormone(FSH)levels were 1.0 IU l−1,and testosterone levels were 1.3 nmol l−*** contrast,the de novo group had LH levels of 0.2 IU l−1,FSH levels of 0.5 IU l−1,and testosterone levels of 0.9 nmol l−1,indicating milder hypothalamus–pituitary–gonadal axis(HPGA)functional deficiency in the inherited *** inherited mutation group showed a tendency toward higher spermatogenesis *** conclusion,this study underscores the predominance of inherited FGFR1 mutations and their association with milder HPGA dysfunction compared to de novo mutations,contributing to our understanding of the genetic and clinical aspects of FGFR1 mutations.

关键词： congenital hypogonadotropic hypogonadism de novo FGFR1 inherited

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Adult-onset idiopathic hypogonadotropic hypogonadism： possible aetiology, clinical manifestations and management

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Asian Journal of Andrology 2010年第4期12卷 611-614页

作者： jiang-feng mao Min Nie Shuang-Yu Lu Xue-Yan Wu Department of Endocrinology Peking Union Medical College Hospital Beijing 100730 China

We are doctors from Peking Union Medical College Hospital, Beijing, China. Male idiopathic hypogonadotropic hypogonadism （IHH） is a congenital disease that manifests as small testes, a short penis and no pubertal development. Some patients exhibit cryptorchism and ambiguous genitalia [1]. IHH has been reported being caused by gene mutations in KAL-1, FGFR1, GnRHR, GPR54, and several other ligands and receptors [2]. For these patients, gonadotropins or testosterone is the primary choice of therapy. However, adult-onset IHH,

关键词： possible aetiology clinical manifestations management

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Growth hormone cocktail improves hepatopulmonary syndrome secondary to hypopituitarism:A case report

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World Journal of Clinical Cases 2021年第18期9卷 4852-4858页

作者： Wen Ji Min Nie jiang-feng mao Hong-Bing Zhang Xi Wang Xue-Yan Wu Department of Endocrinology Peking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Department of Endocrinology Peking Union Medical College HospitalBeijing 100730China Department of Physiology Collaborative Innovation Center for Cancer MedicineInstitute of Basic Medical Sciences and School of Basic MedicineBeijing 100005China

BACKGROUND Metabolic associated fatty liver disease frequently occurs in patients with hypopituitarism and growth hormone(GH)*** patients may develop to hepatopulmonary syndrome(HPS).HPS has a poor prognosis and liver transplantation is regarded as the only approach to cure *** SUMMARY A 29-year-old man presented with progressive dyspnea for 1 *** the age of 10 years,he was diagnosed with panhypopituitarism associated with pituitary stalk interruption *** and hydrocortisone were given since *** achieve ideal height,he received GH treatment for 5 *** patient had an oxygen saturation of 78%and a partial pressure of arterial oxygen of 37 mmHg with an alveolar–arterial oxygen gradient of 70.2 *** ultrasonography showed liver cirrhosis and an enlarged *** lung scan demonstrated intrapulmonary arteriovenous right-to-left ***(very severe)was our primary *** hormonal evaluation revealed GH deficiency and hypogonadotropic hypogonadism when thyroid hormone,cortisol,and desmopressin were *** adding with long-acting recombinant human GH and testosterone for 14 mo,his liver function and hypoxemia were improved and his progressive liver fibrosis was *** was off the waiting list of liver *** Clinicians should screen HPS patients'anterior pituitary function as early as possible and treat them primarily with GH cocktail accordingly.

关键词： Hepatopulmonary syndrome Testosterone Growth hormone Intrapulmonary shunt Insulin-like growth factor Case report

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Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing

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Asian Journal of Andrology 2021年第1期23卷 69-73页

作者： Bing-Qing Yu Zhao-Xiang Liu Yin-Jie Gao Xi Wang jiang-feng mao Min Nie Xue-Yan Wu NHC Key Laboratory of Endocrinology Department of EndocrinologyPeking Union Medical College HospitalPeking Union Medical CollegeChinese Academy of Medical SciencesBeijing 100730China

46,XY disorders of sex development(DSD)is characterized by incomplete masculinization genitalia,with gonadal dysplasia and with/without the presence of Mullerian *** least 30 genes related to 46,XY DSD have been ***,the clinical phenotypes of patients with different gene mutations overlap,and accurate diagnosis relies on gene sequencing ***,this study aims to determine the prevalence of pathogenic mutations in a Chinese cohort with 46,XY DSD by the targeted nextgeneration sequencing(NGS)***-seven 46,XY DSD patients were enrolled from the Peking Union Medical College Hospital(Beijing,China).A total of fifty-four rare variants were identified in 60 patients with 46,XY *** incidence of these rare variants was approximately 69.0%(60/87).Twenty-five novel variants and 29 reported variants were *** on the American College of Medical Genetics and Genomics(ACMG)guidelines,thirty-three variants were classified as pathogenic or likely pathogenic variants and 21 variants were assessed as variants of uncertain *** overall diagnostic rate was about 42.5%based on the pathogenic and likely pathogenic *** receptor{AR),steroid 5-alpha-reductase 2(SRD5A2)and nuclear receptor subfamily 5 Group A member 1(NR5A1)gene variants were identified in 21,13 and 13 patients,*** incidence of these three gene variants was about 78.3%(47/60)in patients with rare *** is concluded that targeted NGS is an effective method to detect pathogenic mutations in 46,XY DSD patients and AR,SRD5A2,and NR5A1 genes were the most common pathogenic genes in our cohort.

关键词： 46,XY disorders of sex development mutations targeted next-generation sequencing

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Hypercalcemia Appeared in a Patient with Glucagonoma Treated with Octreotide Acetate Long-acting Release

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Chinese Medical Sciences Journal 2012年第3期27卷 182-184页

作者： Rui Min Mei Li jiang-feng mao feng Gu Hui-juan Zhu Wen-hui Li Yu-xiu Li Department of Endocrinology Key Laboratory of Endocrinology of the Ministry of HealthPeking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China

PABCREATIC neuroendocrine tumours are uncommon neoplasms of the *** may cause a clinical syndrome due to hormone *** is a rare kind of pancreatic tumors. Here we report a case of glucagonoma. Hypercalcemia occurred wh... 详细信息

关键词： octreotide acetate long-acting release glucagonoma hypercalcemia

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Predictive factors for pituitary response to pulsatile GnRH therapy in patients with congenital hypogonadotropic hypogonadism

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Asian Journal of Andrology 2018年第4期20卷 319-323页

作者： jiang-feng mao Xi Wang Jun-Jie Zheng Zhao-Xiang Liu Hong-Li Xu Bing-Kun Huang Min Nie Xue-Yan Wu Department of Endocrinology Peking Union Medical College Hospital Key Laboratory of Endocrinology Ministry of Health Beijing 100730 China

Pulsatile gonadotropin-releasing hormone （GnRH） may induce spermatogenesis in most patients with congenital hypogonadotropic hypogonadism （CHH） by stimulating gonadotropin production, while the predictors for a pituitary response to pulsatile GnRH therapy were rarely investigated. Therefore, the aim of our study is to investigate predictors of the pituitary response to pulsatile GnRH therapy. This retrospective cohort study included 82 CHH patients who received subcutaneous pulsatile GnRH therapy for at least 1 month. Patients were categorized into poor or normal luteinizing hormone （LH） response subgroups according to their LH level （LH 〈2 IU 1-1 or LH P_2 IU 1-1） 1 month into pulsatile GnRH therapy. Gonadotropin and testosterone levels, testicular size, and sperm count were compared between the two subgroups before and after GnRH therapy. Among all patients, LH increased from 0.4±0.5 IUI^-1 to 7.5±4.4 IUI^-1 and follicle-stimulating hormone （FSH） increased from 1.1±0.9 IUI^-1 to 8.8±5.3 IU 1-1. A Cox regression analysis showed that basal testosterone level （6 = 0.252, P = 0.029） and triptorelin-stimulated FSH60min（13 = 0.518, P = 0.01） were two favorable predictors for pituitary response to GnRH therapy. Nine patients （9/82, 11.0%） with low LH response to GnRH therapy were classified into the poor LH response subgroup. After pulsatile GnRH therapy, total serum testosterone level was 39± 28 ng dl^-1 versus 248±158 ng d1^-1 （P=0.001）, and testicular size was 4.0±3.1 ml versus 7.9±4.5 ml （P= 0.005） in the poor and normal LH response subgroups, respectively. It is concluded that higher levels of triptorelin-stimulated FSH60min. and basal total serum testosterone are favorable predictors of pituitary LH response to GnRH therapy.

关键词： congenital hypogonadotropic hypogonadism pulsatile GnRH therapy treatment

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Gonadotropin treatment for male partial congenital hypogonadotropic hypogonadism in Chinese patients

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Asian Journal of Andrology 2020年第4期22卷 390-395页

作者： Ming Hao Min Nie Bing-Qing Yu Yin-Jie Gao Xi Wang Wan-Lu Ma Qi-Bin Huang Rui Zhang jiang-feng mao Xue-Yan Wu NHC Key laboratory of Endocrinolog Peking Union Medical College HospitalDepartment of EndocrinologyPeking Union Medical College HospitalPeking Union Medical CollegeChinese Academy of Medical SciencesBeijing 100730China Department of Endocrinology The First Affiliated Hospital of Harbin Medical UniversityHarbin 150001China

Partial congenital hypogonadotropic hypogonadism(PCHH)is caused by an insufficiency in,but not a complete lack of,gonadotropin *** leads to reduced testosterone production,mild testicular enlargement,and partial pubertal *** studies have shown the productivity of spermatogenesis in patients with *** compared the outcomes of gonadotropin-induced spermatogenesis between patients with PCHH and those with complete congenital hypogonadotropic hypogonadism(CCHH).This retrospective study included 587 patients with CHH who were treated in Peking Union Medical College Hospital(Beijing,China)from January 2008 to September 2016.A total of 465 cases were excluded from data analysis for testosterone or gonadotropin-releasing hormone treatment,cryptorchidism,poor compliance,or incomplete medical *** defined male patients with PCHH as those with a testicular volume of≥4 ml and patients with a testicular volume of<4 ml as CCHH.A total of 122 compliant,noncryptorchid patients with PCHH or CCHH received combined human chorionic gonadotropin and human menopausal gonadotropin and were monitored for 24 *** size,serum luteinizing hormone levels,follicle-stimulating hormone levels,serum total testosterone levels,and sperm count were recorded at each *** gonadotropin therapy,patients with PCHH had a higher spermatogenesis rate(92.3%)than did patients with CCHH(74.7%).During 24-month combined gonadotropin treatment,the PCHH group took significantly less time to begin producing sperm compared with the CCHH group(median time:11.7 vs 17.8 months,P<0.05).In conclusion,after combined gonadotropin treatment,patients with PCHH have a higher spermatogenesis success rate and sperm concentrations and require shorter treatment periods for sperm production.

关键词： gonadotropin treatment partial congenital hypogonadotropic hypogonadism spermatogenesis

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Reversal of idiopathic hypogonadotropic hypogonadism： a cohort study in Chinese patients

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Asian Journal of Andrology 2015年第3期17卷 497-502页

作者： jiang-feng mao Hong-Li Xu Jin Duan Rong-Rong Chen Li Li Bin Li Min Nie Le Min Hong-Bing Zhang Xue-Yan Wu Department of Endocrinology Peking Union Medical College Hospital Key Laboratory of Endocrinology Ministry of Health Beijing 100730 China Department of Physiology State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences and School of Basic Medicine Peking Union Medical College and Chinese Academy of Medical Sciences Beijing 100005 China Beijing Genomics Institute at Shenzhen Shenzhen 518083 China Division of Endocrinology Diabetes and Hypertension Brigham and Women's Hospital Harvard Medical School Boston MA 02115 USA

Although idiopathic hypogonadotropic hypogonadism （IHH） has traditionally been viewed as a life-long disease caused by a deficiency of gonadotropin-releasing hormone neurons, a portion of patients may gradually regain normal reproductive axis function during hormonal replacement therapy. The predictive factors for potential IHH reversal are largely unknown. The aim of our study was to investigate the incidence and clinical features of IHH male patients who had reversed reproductive axis function. In this retrospective cohort study, male IHH patients were classified into a reversal group （n = 18） and a nonreversal group （n = 336）. Concentration of gonadotropins and testosterone, as well as testicle sizes and sperm counts, were determined. Of 354 IHH patients, 18 （5.1%） acquired normal reproductive function during treatment. The median age for reversal was 24 years old （range 21-34 years）. Compared with the nonreversal group, the reversible group had higher basal luteinizing hormone （LH）（1,0±0.7 IU 1-1 vs 0.4±0.4 IU 1-1, P 〈 0.05） and stimulated LH （28.3 ± 22.6 IU 1-1 vs 1.9 ±1.1 IU 1-1, P 〈 0.01） levels, as well as larger testicle size （5.1 ±2.6 ml vs 1.5± 0.3 ml, P〈 0.01）, at the initial visit. In summary, larger testicle size and higher stimulated LH concentrations are favorite parameters for reversal. Our finding suggests that reversible patients may retain partially active reproductive axis function at initial diagnosis.

关键词： hypothalamic-pituitary-gonadal axis idiopathic hypogonadotropic hypogonadism reversal

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Curation,nomenclature,and topological classification of receptor-like kinases from 528 plant species for novel domain discovery and functional inference

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Molecular Plant 2024年第4期17卷 658-671页

作者： Qian Liu Qiong Fu Yujie Yan Qian jiang Longfei mao Long Wang feng Yu Heping Zheng State Key Laboratory of Chemo/Biosensing and Chemometrics Hunan University College of BiologyChangshaHunan 410082China Bioinformatics Center Hunan University College of BiologyChangshaHunan 410082China

Receptor-like kinases(RLKs)are the most numerous signal transduction components in plants and play important roles in determining how different plants adapt to their ecological *** on RLKs has focused mainly on a small number of typical RLK members in a few model *** is an urgent need to study the composition,distribution,and evolution of RLKs at the holistic level to increase our understanding of how RLKs assist in the ecological adaptations of different plant *** this study,we collected the genome assemblies of 528 plant species and constructed an RLK *** this dataset,we identified and characterized 524948 RLK family *** member underwent systematic topological classification and was assigned a gene ID based on a unified nomenclature ***,we identified two novel extracellular domains in some RLKs,designated Xiao and *** analysis of the RLK family revealed that the RLCK-XVII and RLCK-XII-2 classes were present exclusively in dicots,suggesting that diversification of RLKs between monocots and dicots may have led to differences in downstream cytoplasmic *** also used an interaction proteome to help empower data mining for inference of new RLK functions from a global perspective,with the ultimate goal of understanding how RLKs shape the adaptation of different plants to the environments/*** assembled RLK dataset,together with annotations and analytical tools,forms an integrated foundation of multiomics data that is publicly accessible via the metaRLK web portal(http://***).

关键词： RLK RLCK domain signaling pathway receptor-protein interactions

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Effects of Reinforcement Content and Homogenization Treatment on the Microstructure and Mechanical Properties of in‑situ TiB_(2)/2219Al Composites

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Acta Metallurgica Sinica(English Letters) 2024年第8期37卷 1421-1437页

作者： Linwei Li Donghu Zhou Kai Zhao Lifeng jiang Huijun Kang Enyu Guo feng mao Zongning Chen Tongmin Wang Key Laboratory of Solidification Control and Digital Preparation Technology(Liaoning Province) School of Materials Science and EngineeringDalian University of TechnologyDalian 116024China Ningbo Institute of Dalian University of Technology Ningbo 315000China National Joint Engineering Research Center for Abrasion Control and Molding of Metal Materials Henan University of Science and TechnologyLuoyang 471003China Longmen Laboratory Luoyang 471000China

Obtaining an appropriate grain size is crucial for Al alloys or Al matrix composites prior to processing,as it significantly influences the mechanical properties of components and workability during the manufacturing ***_(2)particles are exceptional grain refiners in Al and serve as excellent reinforcement particles for particulate-reinforced aluminum matrix ***,the optimal particle content for achieving excellent refinement and strengthening effects depends on the matrix composition and requires further ***,homogenization is essential for mitigating the element segregation in the *** it is anticipated that adding suitable particles can effectively inhibit undesired grain growth during homogenization,comprehensive investigations on this aspect are currently ***,TiB_(2)/2219Al matrix composites with varying reinforcement contents(0,1,3,5 wt%)were fabricated through traditional casting followed by homogenization treatment to address these research *** effects of reinforcement content and homogenization treatment on the microstructure and mechanical properties of in-situ TiB_(2)/2219Al composites were *** results demonstrate a gradual strengthening of the refining effect with increasing particle ***,composites containing 3 wt%TiB_(2)particles exhibit superior comprehensive mechanical properties in both as-cast and homogenized ***,potential orientation relationships are observed and calculated between undissolved Al_(2)Cu eutectic phase and submicron or nanometer-sized TiB_(2)particles,resulting in a mixture structure with enhanced bonding *** mixture structure is continuously distributed along grain boundaries during solidification,forming a three-dimensional cellular network that acts as primary retarding forces for grain growth during ***,the established homogenization kinetic equations were further utilized to an

关键词： TiB_(2)/2219Al matrix composite Reinforcement content Homogenization treatment Homogenization kinetic Cellular structure Mechanical property

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