Predictors of reproductive and non-reproductive outcomes of gonadotropin mediated pubertal induction in male patients with congenital hypogonadotropic hypogonadism (CHH)
Sign Up to like & getrecommendations! 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
Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism
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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
Recovery of hypothalamic–pituitary–gonadal function with low dose testosterone treatment in a male with congenital hypogonadotropic hypogonadism
Sign Up to like & getrecommendations! 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… read more here.
Keywords: testosterone treatment; hypogonadism; congenital hypogonadotropic; testosterone ... See more keywords
Clinical and genetic features of 64 young male paediatric patients with congenital hypogonadotropic hypogonadism
Sign Up to like & getrecommendations! 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
Why should orchidopexy be performed in congenital hypogonadotropic hypogonadism, and when?
Sign Up to like & getrecommendations! 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… read more here.
Keywords: hypogonadism; hypogonadotropic hypogonadism; congenital hypogonadotropic; testicular cancer ... See more keywords
Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: biallelic prokr2; prokr2; chh; prokr2 variants ... See more keywords
Seminal plasma metabolomics signatures of normosmic congenital hypogonadotropic hypogonadism.
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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… read more here.
Keywords: normosmic congenital; plasma; congenital hypogonadotropic; hypogonadotropic hypogonadism ... See more keywords
The initiation and maintenance of gonadotropin-releasing hormone neuron identity in congenital hypogonadotropic hypogonadism
Sign Up to like & getrecommendations! 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… read more here.
Keywords: releasing hormone; gonadotropin releasing; identity; congenital hypogonadotropic ... See more keywords