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Unusual coexistence of restrictive heart disease and Kallmann syndrome: a case report
BackgroundKallmann–Morsier syndrome is a rare disease characterized by the association of congenital gonadotropic deficiency and anosmia or hyposmia....
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Kallmann Syndrome (Type 1 and 2)
OMIM: # 308700, #147950
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Kallmann Syndrome (Hypogonadotropic Hypogonadism)
In this chapter, the reader will get acquainted with the clinical features, diagnosis, and treatment of Kallmann syndrome, a congenital form of...
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When anorexia nervosa symptoms mask Kallmann syndrome
BackgroundAlthough anorexia nervosa might delay puberty, a structured assessment at its onset remains crucial in excluding congenital delayed puberty...
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Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1
BackgroundKallmann syndrome (KS) is a common type of idiopathic hypogonadotropic hypogonadism. To date, more than 30 genes including ANOS1 and FGFR1 ...
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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID), who carried an apparently balanced translocation...
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Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption
Kallmann syndrome (KS) is a rare hereditary disease with high phenotypic and genetic heterogeneity. Congenital hypogonadotropic hypogonadism and...
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Two Sisters with Kallmann Syndrome, Gonadal Dysgenesis, and Multiple Neuromuscular and Endocrine Disorders: Report of Two Cases with Description of an Unusual Association
Kallmann syndrome (KS) is an uncommon genetic disorder characterized by isolated congenital hypogonadotropic hypogonadism (CHH) and anosmia/hyposmia....
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A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report
BackgroundVariants of chromodomain helicase DNA binding protein 7 (CHD7) gene are commonly associated with Kallmann syndrome (KS) and account for...
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MR imaging in Kallmann syndrome: a case report
BackgroundA rare genetic disorder called Kallmann syndrome results from a defect in the neuronal migration of olfactory axons and...
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A Novel Noncanonical Splicing Mutation of ANOS1 Gene in Siblings with Kallmann Syndrome Identified by Whole-Exome Sequencing
Kallmann syndrome (KS) is a rare genetic disorder that is characterized by idiopathic hypogonadotropic hypogonadism associated with anosmia. Genetic...
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A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
We report the first case of Waardenburg syndrome type 4C and Kallmann syndrome in the same person. The patient, a Japanese girl, presented with...
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Mixed hypogonadism: a neglected combined form of hypogonadism
PurposeKallmann syndrome is a rare disease characterized by delayed puberty, infertility and anosmia. We report the clinical and genetic...
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Identification of MMACHC and PROKR2 mutations causing coexistent cobalamin C disease and Kallmann syndrome in a young woman
Cobalamin C (cblC) disease and Kallmann syndrome (KS) are rare hereditary diseases. To date, no report has described the coexistence of those two...
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Live birth in male de novo Kallmann syndrome after cross-generational genetic sequencing
PurposeTo present the first case proposing the use of preimplantation genetic testing for monogeneic disorders for Kallmann syndrome, providing...
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Congenital Hypogonadotropic Hypogonadism of Hypothalamic Origin
Testicular dysfunction of hypothalamic and/ or pituitary origin is referred to as “hypogonadotropic hypogonadism, HH.” Hypothalamic GnRH deficiency...
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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic...
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Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report
BackgroundContiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid...
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Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
BackgroundThe deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 ...
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Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report
BackgroundCHARGE syndrome is a relatively common cause of deafness and blindness resulting from failure to form the primordia of specific organs due...
