ReviewFrontiers in endocrinology2022
Genetic architecture of self-limited delayed puberty and congenital hypogonadotropic hypogonadism.
Review in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Sibling cases of congenital hypogonadotropic hypogonadism harboring compound heterozygousClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Molecular Mechanisms of Dysregulated LH and FSH Secretion in Human Reproductive Failure.Biomedicines · 2026Review
- Identification of a novel KISS1R (GPR54) gene variant (c.505+2T>G) in a patient with congenital hypogonadotropic hypogonadism: A case report and literature review.Experimental and therapeutic medicine · 2026Article
- Novel KISS1 Gene Mutation Leading to Male Hypogonadotropic Hypogonadism.Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association · 2026Article
- Kallmann Syndrome in a 30-Year-Old Female With Primary Infertility: A Case Report.Case reports in obstetrics and gynecology · 2026Article
- Clinical and genetic characteristics of boys with congenital hypogonadotropic hypogonadism: a single-center experience.BMC pediatrics · 2025Article
- Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.BMC genomics · 2024Article
- Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty.Journal of pediatric endocrinology & metabolism : JPEM · 2024Review
- Additional mutation inBMJ case reports · 2024Article
- Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.Human reproduction open · 2024Article
- Diabetes Mellitus, Kidney Disease, and Sense of Taste.Deutsches Arzteblatt international · 2023Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Distinguishing between self limited delayed puberty (SLDP) and congenital hypogonadotropic hypogonadism (CHH) may be tricky as they share clinical and biochemical characteristics. and appear to lie within the same clinical spectrum. However, one is classically transient (SDLP) while the second is typically a lifetime condition (CHH). The natural history and long-term outcomes of these two conditions differ significantly and thus command distinctive approaches and management. Because the first presentation of SDLP and CHH is very similar (delayed puberty with low LH and FSH and low sex hormones), the scientific community is scrambling to identify diagnostic tests that can allow a correct differential diagnosis among these two conditions, without having to rely on the presence or absence of phenotypic red flags for CHH that clinicians anyway seem to find hard to process. Despite the heterogeneity of genetic defects so far reported in DP, genetic analysis through next-generation sequencing technology (NGS) had the potential to contribute to the differential diagnostic process between SLDP and CHH. In this review we will provide an up-to-date overview of the genetic architecture of these two conditions and debate the benefits and the bias of performing genetic analysis seeking to effectively differentiate between these two conditions.
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