ArticleEndocrinology, diabetes & metabolism case reports2018
Normosmic idiopathic hypogonadotrophic hypogonadism due to a rare KISS1R gene mutation.
Article in Endocrinology, diabetes & metabolism case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
4 citing papers in PubMed, 9 citations in OpenAlex.
- 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
- Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A NovelJournal of clinical research in pediatric endocrinology · 2019Article
- An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family.Case reports in pediatrics · 2019Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypogonadotrophic hypogonadism is due to impaired or reduced gonadotrophin secretion from the pituitary gland. In the absence of any anatomical or functional lesions of the pituitary or hypothalamic gland, the hypogonadotrophic hypogonadism is referred to as idiopathic hypogonadotrophic hypogonadism (IHH). We present a case of a young lady born to consanguineous parents who was found to have IHH due to a rare gene mutation. Learning points: The genetic basis of a majority of cases of IHH remains unknown.IHH can have different clinical endocrine manifestations.Patients can present late to the healthcare service because of unawareness and stigmata associated with the clinical features.Family members of affected individuals can be affected to varying degrees.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.