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   Articles with "hypogonadotropic hypogonadism" as a keyword



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FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split‐Hand/Foot Malformation: Implications for the Promoter Region

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recommendations! Published in 2017 at "Human Mutation"

DOI: 10.1002/humu.23178

Abstract: Heterozygous loss‐of‐function mutations of FGFR1 (fibroblast growth factor receptor 1) cause various disorders including hypogonadotropic hypogonadism with split‐hand/foot malformation (HH‐SHFM). We examined FGFR1 in four Japanese patients with HH‐SHFM (cases 1–4) and the mother of… read more here.

Keywords: foot malformation; split hand; fgfr1; hypogonadotropic hypogonadism ... See more keywords
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Predictors of reproductive and non-reproductive outcomes of gonadotropin mediated pubertal induction in male patients with congenital hypogonadotropic hypogonadism (CHH)

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recommendations! Published in 2021 at "Journal of Endocrinological Investigation"

DOI: 10.1007/s40618-021-01556-x

Abstract: To investigate predictors of testicular response and non-reproductive outcomes (height, body proportions) after gonadotropin-induced puberty in congenital hypogonadotropic hypogonadism (CHH). A retrospective analysis of the puberty induction in CHH male patients, undergoing an off-label administration… read more here.

Keywords: reproductive outcomes; chh; hypogonadotropic hypogonadism; induction ... See more keywords
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A female with isolated hypogonadotropic hypogonadism: A case report and review article

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recommendations! Published in 2022 at "Annals of Medicine and Surgery"

DOI: 10.1016/j.amsu.2022.103289

Abstract: Background Isolated Hypogonadotropic Hypogonadism (IHH) is a clinical syndrome that results from gonadal failure due to abnormal pituitary gonadotropin levels, in the presence of normal baseline and reserve testing of the remaining pituitary hormones. Case… read more here.

Keywords: case; isolated hypogonadotropic; female isolated; hypogonadotropic hypogonadism ... See more keywords
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Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants

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recommendations! Published in 2018 at "Genetics in Medicine"

DOI: 10.1038/gim.2017.197

Abstract: PurposeCongenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of complex syndromes (e.g., CHARGE syndrome). CHD7 mutations were reported in 60% of patients with CHARGE syndrome, and… read more here.

Keywords: charge syndrome; charge; chh; hypogonadotropic hypogonadism ... See more keywords
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A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.

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recommendations! Published in 2023 at "Human molecular genetics"

DOI: 10.1093/hmg/ddad014

Abstract: Isolated hypogonadotropic hypogonadism (IHH) is a rare disease with hypogonadism and infertility caused by the defects in embryonic migration of hypothalamic gonadotropin-releasing hormone (GnRH) neurons, hypothalamic GnRH secretion or GnRH signal transduction. PROKR2 gene, encoding… read more here.

Keywords: prokr2 mutations; isolated hypogonadotropic; hypogonadotropic hypogonadism; prokr2 ... See more keywords
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Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism

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recommendations! Published in 2017 at "Human Reproduction"

DOI: 10.1093/humrep/dew354

Abstract: STUDY QUESTION What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)? SUMMARY ANSWER Three of forty-two (7.1%) patients presented ANOS1 mutations, including a… read more here.

Keywords: anos1 mutations; congenital hypogonadotropic; hypogonadotropic hypogonadism; study ... See more keywords
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Reversal of idiopathic hypogonadotropic hypogonadism in a Chinese male cohort

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recommendations! Published in 2022 at "Andrologia"

DOI: 10.1111/and.14583

Abstract: Idiopathic hypogonadotropic hypogonadism (IHH) is a rare genetically heterogeneous disease and characterized by incomplete or absent puberty and infertility. It is worth noting that partial IHH patients could recover reproductive endocrine function following treatment, which… read more here.

Keywords: idiopathic hypogonadotropic; reversal group; hypogonadotropic hypogonadism; reversal ... See more keywords
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Clinical and genetic features of 64 young male paediatric patients with congenital hypogonadotropic hypogonadism

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recommendations! Published in 2017 at "Clinical Endocrinology"

DOI: 10.1111/cen.13451

Abstract: The diagnosis of congenital hypogonadotropic hypogonadism (CHH) in prepuberty has always been challenging. Here, we aimed at studying the clinical and genetic features of paediatric CHH, especially the phenotype of hypospadias and dual defects (patients… read more here.

Keywords: features young; clinical genetic; hypogonadotropic hypogonadism; genetic features ... See more keywords
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The Testosterone Effect on Metabolic and Urologic Outcomes in Patients with Nonfunctioning Pituitary Macroadenomas and Hypogonadotropic Hypogonadism

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recommendations! Published in 2019 at "International Journal of Endocrinology"

DOI: 10.1155/2019/2356580

Abstract: Objective To evaluate cardiovascular risk, metabolic profile, low urinary tract symptoms (LUTS), and sexual function in patients with nonfunctional pituitary macroadenoma (NFPMA) and hypogonadotropic hypogonadism with testosterone therapy (TTh). Methods A retrospective clinical study at… read more here.

Keywords: hypogonadism testosterone; hypogonadotropic; hypogonadotropic hypogonadism; cardiovascular risk ... See more keywords
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DLG2 mutations in the etiology of pubertal delay and Idiopathic Hypogonadotropic Hypogonadism.

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recommendations! Published in 2021 at "Hormone research in paediatrics"

DOI: 10.1159/000520409

Abstract: INTRODUCTION Idiopathic Hypogonadotropic hypogonadism (IHH) is caused by dysfunction of the hypothalamic-pituitary-gonadal axis. DLG2 was recently implicated as a gene associated with delayed puberty and which may also contribute to IHH. The confirmation of the… read more here.

Keywords: dlg2 mutations; idiopathic hypogonadotropic; hypogonadotropic hypogonadism; etiology ... See more keywords

SLIT2 Rare Sequencing Variants Identified in Idiopathic Hypogonadotropic Hypogonadism

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recommendations! Published in 2022 at "Hormone Research in Paediatrics"

DOI: 10.1159/000525769

Abstract: Introduction: Idiopathic hypogonadotropic hypogonadism (IHH) is a rare reproductive disorder resulting from gonadotropin-releasing hormone (GnRH) deficiency. However, in only approximately half of patients with IHH is it possible to identify a likely molecular diagnosis. Mice… read more here.

Keywords: ihh; slit2; idiopathic hypogonadotropic; rare sequencing ... See more keywords