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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…
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Keywords:
reproductive outcomes;
chh;
hypogonadotropic hypogonadism;
induction ... See more keywords
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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…
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Keywords:
anos1 mutations;
congenital hypogonadotropic;
hypogonadotropic hypogonadism;
study ... See more keywords
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Published in 2022 at "Andrologia"
DOI: 10.1111/and.14628
Abstract: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease caused by deficiency or action of gonadotropin‐releasing hormone. While generally considered a long‐life condition, CHH can be reversible in about 5%–20% of cases, but mechanisms of reversibility…
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Keywords:
testosterone treatment;
hypogonadism;
congenital hypogonadotropic;
testosterone ... See more keywords
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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…
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Keywords:
features young;
clinical genetic;
hypogonadotropic hypogonadism;
genetic features ... See more keywords
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Published in 2023 at "Hormone research in paediatrics"
DOI: 10.1159/000530520
Abstract: BACKGROUND In otherwise normal boys with undescended testes, early orchidopexy is recommended to preserve fertility, to decrease the risk of testicular cancer and to facilitate its detection. Indeed, compared to the general population, the risk…
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Keywords:
hypogonadism;
hypogonadotropic hypogonadism;
congenital hypogonadotropic;
testicular cancer ... See more keywords
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Published in 2022 at "Endocrine journal"
DOI: 10.1507/endocrj.ej21-0779
Abstract: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that causes gonadotropin-releasing hormone (GnRH) deficiency and sexual immaturity. CHH may accompany an abnormal sense of smell (Kallmann syndrome, KS) or no such manifestation (normosmic-CHH). This unusual…
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Keywords:
biallelic prokr2;
prokr2;
chh;
prokr2 variants ... See more keywords
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Published in 2023 at "Heliyon"
DOI: 10.2139/ssrn.4227597
Abstract: Background Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare disease, whose pathogenesis remains unclear. Here, we conducted untargeted metabolomics and lipidomics to identify seminal plasma signatures of nCHH, and to study the effect of LH…
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Keywords:
normosmic congenital;
plasma;
congenital hypogonadotropic;
hypogonadotropic hypogonadism ... See more keywords
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Published in 2023 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2023.1166132
Abstract: Neurons that secrete gonadotropin-releasing hormone (GnRH) drive vertebrate reproduction. Genetic lesions that disrupt these neurons in humans lead to congenital hypogonadotropic hypogonadism (CHH) and reproductive failure. Studies on CHH have largely focused on the disruption…
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Keywords:
releasing hormone;
gonadotropin releasing;
identity;
congenital hypogonadotropic ... See more keywords