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Quoted phrase not found in phrase index: "Hypogonadotropic hypogonadism associated with other endocrinopathies"
Page 1
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
OBJECTIVE: To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B. ...CONCLUSIONS: 4H is a well-recognizable clinical …
OBJECTIVE: To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (hypomyelination, hypodontia, hypogonad …
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N. Miraoui H, et al. Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. Am J Hum Genet. 2013. PMID: 23643382 Free PMC article.
Congenital hypogonadotropic hypogonadism (CHH) and its anosmia-associated form (Kallmann syndrome [KS]) are genetically heterogeneous. ...Mutations in genes encoding components of the FGF pathway are associated with complex modes of CHH inheritance and …
Congenital hypogonadotropic hypogonadism (CHH) and its anosmia-associated form (Kallmann syndrome [KS]) are genetically …
Late-onset Hypogonadism: Bone health.
Rochira V. Rochira V. Andrology. 2020 Nov;8(6):1539-1550. doi: 10.1111/andr.12827. Epub 2020 Jun 17. Andrology. 2020. PMID: 32469467 Free article. Review.
BACKGROUND: Bone health is underdiagnosed and undermanaged in men. Bone loss occurs in men with hypogonadism and in aging men. Thus, patients with a diagnosis of late-onset hypogonadism (LOH) are at risk of osteoporosis and osteoporotic fractures. ...RESULTS: Late-o …
BACKGROUND: Bone health is underdiagnosed and undermanaged in men. Bone loss occurs in men with hypogonadism and in aging men. Thus, …
Endogenous testosterone and mortality risk.
Meyer EJ, Wittert G. Meyer EJ, et al. Asian J Androl. 2018 Mar-Apr;20(2):115-119. doi: 10.4103/aja.aja_70_17. Asian J Androl. 2018. PMID: 29384142 Free PMC article. Review.
In men, obesity and metabolic complications are associated with lower serum testosterone (T) and dihydrotestosterone (DHT) and an increased risk of, and mortality from, multiple chronic diseases in addition to cardiovascular disease (CVD). ...In men with untreated c …
In men, obesity and metabolic complications are associated with lower serum testosterone (T) and dihydrotestosterone (DHT) and an inc …
Metabolic Syndrome in Male Hypogonadism.
Rastrelli G, Filippi S, Sforza A, Maggi M, Corona G. Rastrelli G, et al. Front Horm Res. 2018;49:131-155. doi: 10.1159/000485999. Epub 2018 May 24. Front Horm Res. 2018. PMID: 29895018 Review.
Metabolic syndrome (MetS) and hypogonadism (HG) are frequently comorbid. In this review, we summarize interconnections between the construct of MetS and the presence of HG, as well as the effect of specific treatments for each condition on this association. ...In fa …
Metabolic syndrome (MetS) and hypogonadism (HG) are frequently comorbid. In this review, we summarize interconnections between the co …
Klinefelter Syndrome and medical treatment: hypogonadism and beyond.
Chang S, Skakkebæk A, Gravholt CH. Chang S, et al. Hormones (Athens). 2015 Oct-Dec;14(4):531-48. doi: 10.14310/horm.2002.1622. Hormones (Athens). 2015. PMID: 26732150 Free article. Review.
Herein we show that KS is under-diagnosed since only roughly 25% of patients are diagnosed and the mean age of diagnosis is during adult life. KS is associated with increased morbidity resulting in loss of 2-5 years in lifespan with increased mortality from different di …
Herein we show that KS is under-diagnosed since only roughly 25% of patients are diagnosed and the mean age of diagnosis is during adult lif …
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.
Cangiano B, Swee DS, Quinton R, Bonomi M. Cangiano B, et al. Hum Genet. 2021 Jan;140(1):77-111. doi: 10.1007/s00439-020-02147-1. Epub 2020 Mar 21. Hum Genet. 2021. PMID: 32200437 Review.
A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be defined in almost 50% of cases, albeit not necessarily the complete genetic basis. ...Robust genotype-phenotype relationships can generally only be established for individuals who are …
A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be defined in almost 50% of cases, albeit not n …
Male hypogonadism and skeletal health.
Irwig MS. Irwig MS. Curr Opin Endocrinol Diabetes Obes. 2013 Dec;20(6):517-22. doi: 10.1097/01.med.0000436185.36717.76. Curr Opin Endocrinol Diabetes Obes. 2013. PMID: 24468754 Review.
Curiously, hypogonadism does not account for the increased osteoporosis seen in men with Klinefelter Syndrome. ...Denosumab was also shown to modestly increase bone-metastasis-free survival in men with castration-resistant prostate cancer. SUMMARY: Although male hypogon …
Curiously, hypogonadism does not account for the increased osteoporosis seen in men with Klinefelter Syndrome. ...Denosumab was also …
Rheumatic diseases and Klinefelter's syndrome.
Rovenský J, Imrich R, Lazúrová I, Payer J. Rovenský J, et al. Ann N Y Acad Sci. 2010 Apr;1193:1-9. doi: 10.1111/j.1749-6632.2009.05292.x. Ann N Y Acad Sci. 2010. PMID: 20398000 Review.
These include two case reports of patients with KS concurrently associated with RA or antisynthetase syndrome, respectively, previously reported by the author and his coworkers. Attention is paid to the pathogenesis and the course of the disease in patients with KS. …
These include two case reports of patients with KS concurrently associated with RA or antisynthetase syndrome, respectively, previous …
Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
Stamou MI, Brand H, Wang M, Wong I, Lippincott MF, Plummer L, Crowley WF, Talkowski M, Seminara S, Balasubramanian R. Stamou MI, et al. J Clin Endocrinol Metab. 2022 Jul 14;107(8):2228-2242. doi: 10.1210/clinem/dgac300. J Clin Endocrinol Metab. 2022. PMID: 35574646 Free PMC article.
CONTEXT: The genetic architecture of isolated hypogonadotropic hypogonadism (IHH) has not been completely defined. OBJECTIVE: To determine the role of copy number variants (CNVs) in IHH pathogenicity and define their phenotypic spectrum. ...CONCLUSION: CNVs in known …
CONTEXT: The genetic architecture of isolated hypogonadotropic hypogonadism (IHH) has not been completely defined. OBJECTIVE: …
122 results