Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia [PDF]
Frontiers in Endocrinology, 2023 IntroductionThe occurrence of prolactinomas in sex hormone treated patients with central hypogonadism is extremely rare.Case presentationWe present a Caucasian male patient who was diagnosed with Kallmann syndrome (KS) at age 15 years.
Mojca Jensterle +16 more
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De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome [PDF]
Case Reports in EndocrinologyConclusion: These results broaden the mutation spectrum of TCF12. More importantly, this study argues for the etiological relationship between TCF12 variants and isolated Kallmann syndrome.
Erina Suzuki +7 more
doaj +3 more sources
Identification and Functional Characterization of a Novel SEMA3A Exon Deletion Variant in Kallmann Syndrome. [PDF]
Mol Genet Genomic MedThe study identified a novel SEMA3A exons 6–9 deletion variant in Kallmann syndrome that impairs GnRH neuronal migration and alters cell migration, gonad development, and synaptic pathways. The study expands mutation spectrum and offers mechanistic insights for clinical diagnosis of Kallmann syndrome.
Zang S, Zhou S, Liu Q, Yin X, Li P.
europepmc +4 more sources
A novel mutation in ANOS1 in a Chinese family with Kallmann syndrome: Case report [PDF]
Clinical Case ReportsKey Clinical Message We reported a novel variant in Kallmann syndrome. It not only determines the clinical importance of whole exome sequencing for identification of genetic pathogenic variants, but also enriches the ANOS1 genetic spectrum of CHH ...
Rong Jiang +3 more
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A rare case of Kallmann syndrome with bimanual synkinesis
Sri Lanka Journal of Medicine, 2021 Kallmann syndrome is a rare inherited disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia. Such cases are mostly diagnosed in adolescent period with complaints of failure to achieve puberty.
A. Deshmukh, R. Joshi
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PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance [PDF]
Global Medical GeneticsKallmann syndrome is a rare genetic disease characterized by the idiopathic hypogonadotropic hypogonadism with hyposmia or anosmia, which exhibits considerable heterogeneity in genotype and phenotype.
Yuanfan Yuan +9 more
doaj +2 more sources
Unusual coexistence of restrictive heart disease and Kallmann syndrome: a case report [PDF]
The Egyptian Heart JournalBackground Kallmann–Morsier syndrome is a rare disease characterized by the association of congenital gonadotropic deficiency and anosmia or hyposmia. The cardiac manifestations associated with this syndrome are little known.
Ghali Bennani +5 more
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A rare disease of Kallmann syndrome: A case report [PDF]
Radiology Case Reports, 2023 Kallmann syndrome (KS) is a rare genetic disorder that refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone-producing neurons.
Syawaluddin Hilman, MD +2 more
doaj +2 more sources
Molecular Genetics and Metabolism Reports, 2020 We report an actionable secondary finding from whole-genome sequencing (WGS) of a 10-year-old boy with autism. WGS identified non-synonymous variants in several genes, including a nonsense mutation in the ANOS1 gene which is an X-linked cause of Kallmann
Paul A. Dawson +4 more
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Kallmann Syndrome. Case presentation
Medisur, 2016 Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism and anosmia. It affects one of every 10 000 and 50 000 women.
Elodia Rivas Alpízar +3 more
doaj +3 more sources