ReviewFrontiers in endocrinology2014
Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes.
Review in Frontiers in endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 126 citations in OpenAlex.
- Review
- Molecular Mechanisms of Dysregulated LH and FSH Secretion in Human Reproductive Failure.Biomedicines · 2026Review
- Chromosomal Roadblocks in Male Fertility: Mechanisms, Risk Factors and Syndromes.Medicina (Kaunas, Lithuania) · 2025Review
- Biological pathways leading to septo-optic dysplasia: a review.Orphanet journal of rare diseases · 2025Review
- Increased homozygosity due to endogamy results in fitness consequences in a human population.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Low-Dose Estrogens as Neuroendocrine Modulators in Functional Hypothalamic Amenorrhea (FHA): The Putative Triggering of the Positive Feedback Mechanism(s).Biomedicines · 2023Review
- Gut Microbiome and Neurodevelopmental Disorders: A Link Yet to Be Disclosed.Microorganisms · 2023Review
- Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients.Biomedicines · 2023Article
- COVIDanno, COVID-19 annotation in human.Frontiers in microbiology · 2023Article
- Clinical Manifestations, Genetic Variants and Therapeutic Evaluation in Sporadic Chinese Patients with Idiopathic Hypogonadotropic Hypogonadism.International journal of general medicine · 2023Article
- Estrogens regulate early embryonic development of the olfactory sensory system via estrogen-responsive glia.Development (Cambridge, England) · 2022Article
- More Evidence and Context Are Needed to Evaluate the Possibility That Scent Perception Is Part of the Same-Sex Sexual Behavior Story.Archives of sexual behavior · 2021Article
- Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.American journal of medical genetics. Part A · 2021Article
- Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review.International journal of molecular sciences · 2021Review
- Does the Act of Copulation per se, without Considering Seminal Deposition, Change the Expression of Genes in the Porcine Female Genital Tract?International journal of molecular sciences · 2020Article
- Characterization of the human GnRH neuron developmental transcriptome using aDisease models & mechanisms · 2020Article
- GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings inFrontiers in endocrinology · 2020Article
- CBX2-dependent transcriptional landscape: implications for human sex development and its defects.Scientific reports · 2019Article
- Deletion of the Homeodomain Protein Six6 From GnRH Neurons Decreases GnRH Gene Expression, Resulting in Infertility.Endocrinology · 2019Article
- Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior.Science (New York, N.Y.) · 2019Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the reproductive axis across life. Congenital hypogonadotropic hypogonadism (HH) is a clinical syndrome that is characterized by partial or complete pubertal failure. HH may result from inadequate hypothalamic GnRH axis activation, or a failure of pituitary gonadotropin secretion/effects. In man, several genes that participate in olfactory and GnRH neuronal migration are thought to interact during the embryonic life. A growing number of mutations in different genes are responsible for congenital HH. Based on the presence or absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations [Kallmann syndrome (KS)] and idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH). KS is a heterogeneous disorder affecting 1 in 5000 males, with a three to fivefold of males over females. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF, and WDR11 genes that are related to defects in neuronal migration. These reproductive and olfactory deficits include a variable non-reproductive phenotype, including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities, and/or renal agenesis. Interestingly, defects in PROKR2, FGFR1, FGF8, CHD7, DUSP6, and WDR11 genes are also associated with normosmic IHH, whereas mutations in KISS1/KISSR, TAC3/TACR3, GNRH1/GNRHR, LEP/LEPR, HESX1, FSHB, and LHB are only present in patients with normosmic IHH. In this paper, we summarize the reproductive, neurodevelopmental, and genetic aspects of HH in human pathology.
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