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References from Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum. Local targets link to admitted publications; unresolved targets remain external evidence.
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism—a clinical perspective
10.1038/s41431-022-01261-0 · 2023 · External reference
Hypogonadisme hypogonadotrope: notions récentes sur la régulation de l'axe hypothalamo‐hypophyso‐gonadique
10.1016/s0003-4266(10)70005-6 · 2010 · External reference
European consensus statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
10.1038/nrendo.2015.112 · 2015 · External reference
Congenital hypogonadotrophic hypogonadism: Minipuberty and the case for neonatal diagnosis
10.3389/fendo.2019.00097 · 2019 · External reference
Mini‐puberty, physiological and disordered: consequences, and potential for therapeutic replacement
10.1210/endrev/bnae003 · 2024 · External reference
Congenital hypogonadotropic hypogonadism: implications of absent mini‐puberty
2016 · External reference
Gonadotropin therapy for mini‐puberty induction in male infants with hypogonadotropic hypogonadism
10.1210/clinem/dgae874 · 2025 · External reference
Gonadotropin administration to mimic mini‐puberty in hypogonadotropic males: pump or injections?
10.1530/ec-22-0252 · 2023 · External reference
Genetics in endocrinology: genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next‐generation sequencing
10.1530/eje-17-0749 · 2018 · External reference
Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice
10.1007/s00439-020-02148-0 · 2021 · External reference
Clinical management of congenital hypogonadotropic hypogonadism
10.1210/er.2018-00116 · 2019 · External reference
The candidate gene for the X‐linked Kallmann syndrome encodes a protein related to adhesion molecules
10.1016/0092-8674(91)90193-3 · 1991 · External reference
Genetic analysis of patients with congenital hypogonadotropic hypogonadism: a case series
10.3390/ijms24087428 · 2023 · External reference
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin‐releasing hormone receptor
10.1056/nejm199711273372205 · 1997 · External reference
Loss‐of‐function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
10.1038/ng1122 · 2003 · External reference
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes
10.1016/j.mce.2006.04.021 · 2006 · External reference
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys
10.1371/journal.pone.0077827 · 2013 · External reference
The genetic backdrop of hypogonadotropic hypogonadism
10.3390/ijms222413241 · 2021 · External reference
Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants
10.1093/ejendo/lvaf015 · 2025 · External reference
Genetics of combined pituitary hormone deficiency: roadmap into the genome era
10.1210/er.2016-1101 · 2016 · External reference
Unresolved reference
External reference
Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation
10.1136/bcr-2023-258042 · 2024 · External reference
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort
10.1111/cen.14355 · 2021 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
MobiDetails: online DNA variants interpretation
10.1038/s41431-020-00755-z · 2021 · External reference
Small vulnerable newborns—big potential for impact
10.1016/s0140-6736(23)00354-9 · 2023 · External reference
Macrosomia: ACOG practice bulletin, number 216
10.1097/aog.0000000000003606 · 2020 · External reference
The external genitalia score (EGS): a European multicenter validation study
10.1210/clinem/dgz142 · 2020 · External reference
A normative model of serum inhibin B in Young males
10.1371/journal.pone.0153843 · 2016 · External reference
Paediatric anti‐Müllerian hormone measurement: male and female reference intervals established using the automated Beckman coulter access AMH assay
10.1002/edm2.21 · 2018 · External reference
Diagnosis of endocrine disease: pituitary stalk interruption syndrome: etiology and clinical manifestations
10.1530/eje-19-0168 · 2019 · External reference
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism
10.1530/eje-18-0764 · 2019 · External reference
Comprehensive molecular studies in 88 Japanese patients with congenital hypogonadotropic hypogonadism
10.1210/clinem/dgaf548 · 2025 · External reference
Targeted gene panel sequencing for molecular diagnosis of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
10.1055/a-0681-6608 · 2019 · External reference
Reproductive phenotypes and genotypes in men with IHH
10.1210/clinem/dgac615 · 2023 · External reference
Identification of gene variants in a cohort of hypogonadotropic hypogonadism: diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease
10.1016/j.mce.2020.110968 · 2020 · External reference
Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann syndrome
10.1016/j.mce.2024.112224 · 2024 · External reference
Prevalence and phenotypic effects of copy number variants in isolated hypogonadotropic hypogonadism
10.1210/clinem/dgac300 · 2022 · External reference
FSH and Sertoli cell biomarkers accurately distinguish hypogonadotropic hypogonadism from self‐limited delayed puberty
10.1210/clinem/dgaf062 · 2025 · External reference
Distinguishing constitutional delay of growth and puberty from isolated hypogonadotropic hypogonadism: critical appraisal of available diagnostic tests
10.1210/jc.2012-1598 · 2012 · External reference
Inhibin B and AMH for diagnosis of hypogonadotropic hypogonadism in boys under 1 year of age: a case‐control study
10.1210/clinem/dgaf219 · 2025 · External reference
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations
10.1371/journal.pone.0025614 · 2011 · External reference
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in the central control of reproduction
10.1038/ng.306 · 2009 · External reference
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans
10.1210/jc.2009-2600 · 2010 · External reference
Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
10.1002/ccr3.3370 · 2020 · External reference
TAC3/TACR3 mutations reveal preferential activation of gonadotropin‐releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood
10.1210/jc.2009-2320 · 2010 · External reference
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
10.1016/j.fertnstert.2011.09.046 · 2011 · External reference
Expanding the Spectrum of founder mutations causing isolated gonadotropin‐releasing hormone deficiency
10.1210/jc.2015-2262 · 2015 · External reference
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures
10.1530/eje-17-0568 · 2018 · External reference
Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes
10.1186/s12958-020-0568-6 · 2020 · External reference
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations
10.1038/gim.2014.166 · 2015 · External reference
Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH)
10.1016/j.gene.2012.12.041 · 2013 · External reference
Kallmann syndrome
10.1038/ejhg.2008.206 · 2009 · External reference
FGFR1 analyses in four patients with hypogonadotropic hypogonadism with Split‐hand/foot malformation: implications for the promoter region
10.1002/humu.23178 · 2017 · External reference
GnRH deficient patients with congenital hypogonadotropic hypogonadism: novel genetic findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A genes in a case series and review of the literature
10.3389/fendo.2020.00626 · 2020 · External reference
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and Septo‐optic dysplasia
10.1210/jc.2011-2938 · 2012 · External reference
Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders
10.1016/j.gim.2023.100881 · 2023 · External reference
Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review
10.1297/cpe.2022-0020 · 2022 · External reference
A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency
10.1515/jpem-2020-0029 · 2020 · External reference
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
10.1016/j.gim.2022.02.013 · 2022 · External reference
Expanding the Spectrum of Endocrine abnormalities associated with SOX11 ‐related disorders
10.1210/clinem/dgae620 · 2025 · External reference
Ablation of the Sox11 gene results in Clefting of the secondary palate resembling the Pierre Robin sequence
10.1074/jbc.m115.690875 · 2016 · External reference
Loss‐of‐function mutations in SOX10 cause Kallmann syndrome with deafness
10.1016/j.ajhg.2013.03.024 · 2013 · External reference
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants
10.1038/s41436-020-01051-3 · 2021 · External reference
10.1056/nejmra2305989
10.1056/nejmra2305989 · External reference
Timing of orchidopexy and its relationship to postoperative testicular atrophy: results from the ORCHESTRA study
10.1093/bjsopen/zraa052 · 2021 · External reference
Evaluation and treatment of cryptorchidism: AUA guideline
10.1016/j.juro.2014.05.005 · 2014 · External reference
Management of undescended testes: European Association of Urology/European Society for Paediatric Urology Guidelines
10.1016/j.jpurol.2016.07.014 · 2016 · External reference
Surgical treatment of cryptorchidism: current insights and future directions
10.3389/fendo.2024.1327957 · 2024 · External reference
Effect of pubertal induction with combined gonadotropin therapy on testes development and spermatogenesis in males with gonadotropin deficiency: a cohort study
10.1093/hropen/hoaf026 · 2025 · External reference
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants
10.1038/gim.2017.197 · 2018 · External reference