Diagnosis of Kallmann Syndrome in a Young Adult Male.
anosmia
genetic disorder
gnrh
hormonal assay
hypogondadotropic hypogonadism
hypoplastic olfactory bulb
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Aug 2024
Aug 2024
Historique:
received:
03
07
2024
accepted:
31
07
2024
medline:
2
9
2024
pubmed:
2
9
2024
entrez:
2
9
2024
Statut:
epublish
Résumé
Kallmann syndrome is an anosmic variety of GnRH (gonadotropin-releasing hormone) deficiency. A young adult male with anosmia since childhood presented with features of failed sexual maturation and underwent an ultrasound of the genital system and an MRI (magnetic resonance imaging) of the brain. MRI revealed absent olfactory bulbs in bilateral olfactory grooves with hypoplastic olfactory sulci on both sides. Ultrasound showed atrophic testes, while the anterior pituitary appeared normal on MRI. The clinical, hormonal, and imaging findings were characteristic of Kallmann syndrome. MRI serves as a crucial tool in its diagnosis.
Identifiants
pubmed: 39221383
doi: 10.7759/cureus.65916
pmc: PMC11364982
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
e65916Informations de copyright
Copyright © 2024, Bothara et al.
Déclaration de conflit d'intérêts
Human subjects: Consent was obtained or waived by all participants in this study. issued approval not applicable. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.