Kallmann's syndrome is a rare genetic disorder due to abnormal migration of olfactory axons and gonadotropin releasing hormone producing neurons, characterized by hypogonadism and anosmia. The prevalence of Kallmann's syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. The inheritance of Kallmann's syndrome may be X-linked, autosomal recessive or autosomal dominant with variable penetrance, mutation involving KAL-1 and KAL-2 gene respectively. We report a case of Kallmann's syndrome in a 19-year-old boy with characteristic clinical, biochemical and MRI findings.
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Magnetic Resonance Imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.
Endocr Connect
December 2024
M Ruchala, Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznań, Poland.
Introduction And Objectives: Isolated hypogonadotropic hypogonadism (IHH) may be associated with pituitary gland and olfactory system disorders. We aimed to correlate findings of Magnetic Resonance Imaging (MRI) of the pituitary gland and olfactory system in IHH patients with the patients' olfactory phenotype.
Patients And Methods: The present research was a single-center retrospective case-control study.
Autosomally dominantly inherited isolated gonadotropin deficiency via maternal assisted reproduction due to SOX10 mutation.
J Pediatr Endocrinol Metab
December 2024
Department of Pediatrics, Division of Endocrinology and Diabetes/The Ohio State University/Nationwide Children's Hospital, Columbus, OH, USA.
Background: Kallmann syndrome (KS) is a rare genetic disorder marked by hypogonadotropic hypogonadism and either anosmia or hyposmia. It exhibits genetic heterogeneity, with mutations identified in only 30 % of cases, involving various genes such as KAL1, FGFR1, FGF8, CHD7, and SOX10. Here, we present a case of gonadotropin deficiency associated with KS, observed in both a mother and her daughter, the latter conceived through assisted reproductive technology using the mother's ovum.
View Article and Find Full Text PDFGonadotropin therapy for mini-puberty induction in male infants with hypogonadotropic hypogonadism: a systematic review.
J Clin Endocrinol Metab
December 2024
Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK.
Context: Congenital hypogonadotropic hypogonadism (CHH) is defined as an isolated deficiency of gonadotropin hormones. Mini-puberty, a transient postnatal activation of the hypothalamic-pituitary-gonadal axis in healthy infants, provides a window of opportunity to diagnose and treat CHH. Currently, in male infants with CHH, testosterone is used to increase phallus size.
View Article and Find Full Text PDFKallmann Syndrome: Functional Analysis of a Missense Variant Shows Aberrant RNA Splicing.
Int J Mol Sci
November 2024
CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilhã, Portugal.
Kallmann syndrome is a rare disorder characterized by hypogonadotropic hypogonadism and an impaired sense of smell (anosmia or hyposmia) caused by congenital defects in the development of the gonadotropin-releasing hormone (GnRH) and olfactory neurons. Mutations in several genes have been associated with Kallmann syndrome. However, genetic testing of this disorder often reveals variants of uncertain significance (VUS) that remain uninterpreted without experimental validation.
View Article and Find Full Text PDFHypogonadotropic hypogonadism as a cause of NOA and its treatment.
Asian J Androl
October 2024
Section of Andrology, Department of Urology, Istanbul School of Medicine, Istanbul 34093, Türkiye.
Hypogonadotropic hypogonadism (HH) represents a relatively rare cause of nonobstructive azoospermia (NOA), but its knowledge is crucial for the clinical andrologists, as it represents a condition that can be corrected with medical therapy in 3 quarters of cases. There are forms of congenital HH, whether or not associated with an absent sense of smell (anosmic HH or Kallmann syndrome, and normosmic HH, respectively), and forms of acquired HH. In congenital HH, complete absence of pubertal development is characteristic.
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