ArticleOrphanet journal of rare diseases2015
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life.
Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Gonadotropin Therapy for Mini-Puberty Induction in Male Infants With Hypogonadotropic Hypogonadism.The Journal of clinical endocrinology and metabolism · 2025Pooled it
- Gonadotropins in Mini-Puberty: Pathophysiological and Therapeutic Implications for Male Congenital Hypogonadism.Children (Basel, Switzerland) · 2026Review
- KAL suppresses cholangiocarcinoma growth via downregulating miR-21 and modulating the PTEN/AKT signaling pathway.Scientific reports · 2025Article
- Inhibin B and AMH for Diagnosis of Hypogonadotropic Hypogonadism in Boys Under 1 Year of Age: A Case-control Study.The Journal of clinical endocrinology and metabolism · 2025Article
- Efficacy and safety of pulsatile GnRH pump therapy in male infants with congenital hypogonadotropic hypogonadism.Endocrine connections · 2025Article
- The molecular basis of hypoprolactinaemia.Reviews in endocrine & metabolic disorders · 2024Review
- A Therapeutic Proposal for Mini-Puberty in Male Infants with Hypogonadotropic Hypogonadism: A Retrospective Case Series.Journal of clinical medicine · 2024Article
- Current landscape of fertility induction in males with congenital hypogonadotropic hypogonadism.Annals of the New York Academy of Sciences · 2024Review
- Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement.Endocrine reviews · 2024Review
- Anti-Müllerian hormone, testicular descent and cryptorchidism.Frontiers in endocrinology · 2024Review
- Gonadotropin administration to mimic mini-puberty in hypogonadotropic males: pump or injections?Endocrine connections · 2023Article
- Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.Reproductive biology and endocrinology : RB&E · 2023Article
- Reproductive Phenotypes in Men With Acquired or Congenital Hypogonadotropic Hypogonadism: A Comparative Study.The Journal of clinical endocrinology and metabolism · 2022Article
- Recent advancement in the treatment of boys and adolescents with hypogonadism.Therapeutic advances in endocrinology and metabolism · 2022Review
- Diagnosis of Male Central Hypogonadism During Childhood.Journal of the Endocrine Society · 2021Article
- RDmap: a map for exploring rare diseases.Orphanet journal of rare diseases · 2021Article
- Ontogeny of Hypothalamus-Pituitary Gonadal Axis and Minipuberty: An Ongoing Debate?Frontiers in endocrinology · 2020Review
- Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries.Endocrine reviews · 2019Review
- Treatment of gonadotropin deficiency during the first year of life: long-term observation and outcome in five boys.Human reproduction (Oxford, England) · 2019Article
- The Genetic Basis of Delayed Puberty.Frontiers in endocrinology · 2019Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Kallmann syndrome (KS) patients carrying FGFR1 mutations can transmit the disorder to their offspring as can asymptomatic female carriers of mutations in KAL1. We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detection by fetal ultrasound: syndactyly or unilateral renal agenesis in subjects with respectively FGFR1 and KAL1 mutations. In relevant family history, ultrasound monitoring can detect KS associated signs before birth and thus enable neonatal diagnosis and early management. These observations also underline the importance of genetic counselling for patients who may transmit KS to their offspring.
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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.