ReviewAsian journal of andrology2012
New understandings of the genetic basis of isolated idiopathic central hypogonadism.
Review in Asian journal of andrology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it.
- "Management of andrological disorders from childhood and adolescence to transition age: guidelines from the Italian Society of Andrology and Sexual Medicine (SIAMS) in collaboration with the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP)-Part-1".Journal of endocrinological investigation · 2025Guideline
- Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.Frontiers in endocrinology · 2024Article
- A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.Human molecular genetics · 2023Article
- Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism.JCI insight · 2023Article
- GNRHR-related central hypogonadism with spontaneous recovery - case report.Italian journal of pediatrics · 2022Article
- Two Sisters with Kallmann Syndrome, Gonadal Dysgenesis, and Multiple Neuromuscular and Endocrine Disorders: Report of Two Cases with Description of an Unusual Association.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Prokineticin 2/PROK2 and Male Infertility.Biomedicines · 2022Review
- The Clinical and Genetic Characteristics in Children with Idiopathic Hypogonadotropin Hypogonadism.Journal of oncology · 2022Article
- [Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects inProblemy endokrinologii · 2021Article
- Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.Human genetics · 2021Review
- WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System.Endocrinology and metabolism (Seoul, Korea) · 2020Review
- Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China.Journal of clinical laboratory analysis · 2020Article
- Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings.Endocrinology, diabetes & metabolism case reports · 2020Article
- Posttranslational Modification Defects in Fibroblast Growth Factor Receptor 1 as a Reason for Normosmic Isolated Hypogonadotropic Hypogonadism.Oxidative medicine and cellular longevity · 2020Article
- A Rare SPRY4 Gene Mutation Is Associated With Anosmia and Adult-Onset Isolated Hypogonadotropic Hypogonadism.Frontiers in endocrinology · 2019Article
- RNF216 Regulates the Migration of Immortalized GnRH Neurons by Suppressing Beclin1-Mediated Autophagy.Frontiers in endocrinology · 2019Article
- Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis.Medicine · 2018Article
- Normosmic idiopathic hypogonadotrophic hypogonadism due to a rare KISS1R gene mutation.Endocrinology, diabetes & metabolism case reports · 2018Article
- Clinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism.Endocrine connections · 2017Article
- Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.European journal of endocrinology · 2017Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic hypogonadotropic hypogonadism is a rare disease that is characterized by delayed/absent puberty and/or infertility due to an insufficient stimulation of an otherwise normal pituitary-gonadal axis by gonadotrophin-releasing hormone (GnRH) action. Because reduced or normal luteinizing hormone (LH)/follicle-stimulating hormone (FSH) levels may be observed in the affected patients, the term idiopathic central hypogonadism (ICH) appears to be more appropriate. This disease should be distinguished from central hypogonadism that is combined with other pituitary deficiencies. Isolated ICH has a complex pathogenesis and is fivefold more prevalent in males. ICH frequently appears in a sporadic form, but several familial cases have also been reported. This finding, in conjunction with the description of numerous pathogenetic gene variants and the generation of several knockout models, supports the existence of a strong genetic component. ICH may be associated with several morphogenetic abnormalities, which include osmic defects that, with ICH, constitute the cardinal manifestations of Kallmann syndrome (KS). KS accounts for approximately 40% of the total ICH cases and has been generally considered to be a distinct subgroup. However, the description of several pedigrees, which include relatives who are affected either with isolated osmic defects, KS, or normo-osmic ICH (nICH), justifies the emerging idea that ICH is a complex genetic disease that is characterized by variable expressivity and penetrance. In this context, either multiple gene variants or environmental factors and epigenetic modifications may contribute to the variable disease manifestations. We review the genetic mechanisms that are presently known to be involved in ICH pathogenesis and provide a clinical overview of the 227 cases that have been collected by the collaborating centres of the Italian ICH Network.
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