Jove
Visualize
Contact Us

Related Experiment Videos

Kallmann's syndrome.

M L Kulkarni1, M D Balaji, Akhil M Kulkarni

  • 1Department of Pediatrics, J.J.M. Medical College, Davangere, Karnataka, India.

Indian Journal of Pediatrics
|January 5, 2008
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Impact of linear infrastructure and landscape characteristics on wildlife roadkill in the Nelliyampathy Hills, Western Ghats, India.

Scientific reports·2025
Same author

Fibrochondrogenesis.

Indian journal of pediatrics·2017
Same author

Jatropha curcas-poisoning.

Indian journal of pediatrics·2017
Same author

Novel and recurrent mutations in WISP3 and an atypical phenotype.

American journal of medical genetics. Part A·2015
Same author

Cystic bone tuberculosis.

Indian journal of pediatrics·2011
Same author

Normal variants of skin in neonates.

Indian journal of dermatology, venereology and leprology·2010
Same journal

Complex Glycerol Kinase Deficiency: A Case of Segmental Loss of Xp Chromosome - Author's Reply.

Indian journal of pediatrics·2026
Same journal

Successful Management of Roemheld Syndrome as an Unusual Cause of Motor Dysphagia in an Adolescent Girl.

Indian journal of pediatrics·2026
Same journal

Probable Dopamine-Induced Transient Vasomotor Rash in a Neonate Undergoing Therapeutic Hypothermia.

Indian journal of pediatrics·2026
Same journal

When the Eye Peels: An Unusual Harbinger of Kawasaki Disease - Author's Reply.

Indian journal of pediatrics·2026
Same journal

Family Perspectives on Unmet Needs and Shared Decision-Making in NICU Setting.

Indian journal of pediatrics·2026
Same journal

Beyond Proteinuria: Does Growth Matter in Childhood Nephrotic Syndrome?

Indian journal of pediatrics·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Kallmann's syndrome, a rare genetic disorder causing hypogonadism and anosmia, results from abnormal neuron migration. This case report details a 19-year-old male patient with characteristic clinical, biochemical, and MRI findings.

Area of Science:

  • Genetics
  • Endocrinology
  • Neuroscience

Background:

  • Kallmann's syndrome is a rare genetic disorder characterized by hypogonadism and anosmia.
  • It arises from the abnormal migration of olfactory axons and gonadotropin-releasing hormone (GnRH) producing neurons.
  • Prevalence ranges from 1:10,000 to 1:60,000, with a 5:1 male to female ratio.

Observation:

  • The study presents a case of Kallmann's syndrome in a 19-year-old male.
  • The patient exhibited characteristic clinical manifestations of the syndrome.
  • Diagnostic workup included biochemical tests and Magnetic Resonance Imaging (MRI).

Findings:

  • The case confirmed typical clinical, biochemical, and MRI findings associated with Kallmann's syndrome.
  • Genetic basis involves mutations in genes like KAL-1 and KAL-2, leading to varied inheritance patterns (X-linked, autosomal recessive, autosomal dominant).

Related Experiment Videos

Implications:

  • This case highlights the importance of recognizing Kallmann's syndrome for timely diagnosis and management.
  • Understanding the genetic underpinnings aids in genetic counseling and potential therapeutic strategies.
  • Further research into neuron migration defects can offer insights into broader neurological conditions.