Skip to content
DraconiticResearch
Search Sources API
206,690 studies31 sourcesUpdated 27 min ago
Peer-reviewedCC BY-NC-NDRadiology Case Reports

Kallmann syndrome revealed by primary amenorrhea: Phenotypic variability and diagnostic challenges—A report of three cases

  • Fatima Toulali, MD1
  • Rim Laaboudi, MD2
  • Hounaida Mahfoud, MD3
  • Amal Lahfidi, MD4
  • Kaoutar Rifai, MD5
  • Fatima Elhassouni, MD2
  • Hinde Iraqi, MD5
  • Mohammed El hassan Gharbi, MD5
  • Samir Bargach, MD2
5 affiliations
  1. 1Endocrinology Department, Ibn Sina University Hospital, Rabat, Morocco; Corresponding author.
  2. 2Department of Obstetrics and Gynecology, Oncology and High-Risk Pregnancies, Maternity Hospital Souissi, Ibn Sina University Hospital, Rabat, Morocco
  3. 3Obstetrics and Gynecology Department, Ibn Sina University Hospital, Rabat, Morocco
  4. 4Department of Neuroradiology, Ibn Sina University Hospital, Rabat, Morocco
  5. 5Endocrinology Department, Ibn Sina University Hospital, Rabat, Morocco
Read full textPDFDOICite

Abstract

Kallmann syndrome is a rare form of congenital hypogonadotropic hypogonadism associated with anosmia or hyposmia. We describe 3 female patients aged 17, 17, and 22 years who were evaluated for primary amenorrhea and reported lifelong anosmia. Hormonal assessment demonstrated hypogonadotropic hypogonadism. Brain magnetic resonance imaging showed bilateral olfactory bulb agenesis in 2 patients and unilateral agenesis with contralateral hypoplasia in one. The clinical presentations varied: 1 patient had complete secondary sexual development, another had a maternal history of anosmia and delayed puberty, and the third had incomplete pubertal development with a borderline low morning cortisol level. Genetic testing was not performed. The combined clinical, hormonal, and imaging findings were strongly supportive of Kallmann syndrome. Treatment was individualized according to pubertal stage. These cases emphasize the value of systematic olfactory assessment and dedicated evaluation of the olfactory bulbs and sulci on magnetic resonance imaging in females with primary amenorrhea.

Related

  1. ANOS1 variant and PROK2 upregulation in familial Kallmann syndrome: integrative genetic, transcriptomic, and phenotypic study
    Katarzyna Bilińska, Angelika Gajewska, Karolina Hołub +3
    Frontiers in Molecular NeurosciencePeer-reviewedCC BY 4.0Full textObstetrics, gynaecology & paediatricsPMC
  2. Recurrent anaphylaxis highlighting methodological variability and diagnostic challenges in the basophil activation test: a case report.
    Kento Okutomi, Yuki Sugiyama, Asako Nitta +2
    JA clinical reportsPeer-reviewedCC BYFull textPharmacology & toxicologyEurope PMCPMC
  3. Familial Congenital Hypothyroidism due to Compound Heterozygous Variants in the TPO Gene: Neonatal Diagnosis, Phenotypic Variability, and Lessons From Long-Term Follow-Up in Three Brothers.
    Mody Diop, Roosler Billy Telcide, Narcisse Elenga
    Case reports in geneticsPeer-reviewedCC BYFull textEndocrinology & metabolismEurope PMCPMC
  4. Struma Ovarii: Radiological Features and Diagnostic Challenges
    Carolina Tim-Tim, Teresa Margarida Cunha
    CureusPeer-reviewedCC BYFull textGeneral medicineEurope PMC
  5. Diagnostic challenges of masked arginine vasopressin deficiency in neurosarcoidosis complicated by sodium–glucose cotransporter 2 inhibitor use
    JCEM case reportsPeer-reviewedCC BYFull textEndocrinology & metabolismEurope PMC

Cite

BibTeXRIS
BibTeX
@article{fatimatoulali2026kallmann,
  title = {{Kallmann syndrome revealed by primary amenorrhea: Phenotypic variability and diagnostic challenges—A report of three cases}},
  author = {Fatima Toulali, MD and Rim Laaboudi, MD and Hounaida Mahfoud, MD and Amal Lahfidi, MD and Kaoutar Rifai, MD and Fatima Elhassouni, MD and Hinde Iraqi, MD and Mohammed El hassan Gharbi, MD and Samir Bargach, MD},
  journal = {Radiology Case Reports},
  year = {2026},
  month = oct,
  doi = {10.1016/j.radcr.2026.09.060},
  url = {https://doi.org/10.1016/j.radcr.2026.09.060},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Kallmann syndrome revealed by primary amenorrhea: Phenotypic variability and diagnostic challenges—A report of three cases
AU  - Fatima Toulali, MD
AU  - Rim Laaboudi, MD
AU  - Hounaida Mahfoud, MD
AU  - Amal Lahfidi, MD
AU  - Kaoutar Rifai, MD
AU  - Fatima Elhassouni, MD
AU  - Hinde Iraqi, MD
AU  - Mohammed El hassan Gharbi, MD
AU  - Samir Bargach, MD
PY  - 2026
DA  - 2026/10/22
JO  - Radiology Case Reports
DO  - 10.1016/j.radcr.2026.09.060
UR  - https://doi.org/10.1016/j.radcr.2026.09.060
AB  - Kallmann syndrome is a rare form of congenital hypogonadotropic hypogonadism associated with anosmia or hyposmia. We describe 3 female patients aged 17, 17, and 22 years who were evaluated for primary amenorrhea and reported lifelong anosmia. Hormonal assessment demonstrated hypogonadotropic hypogonadism. Brain magnetic resonance imaging showed bilateral olfactory bulb agenesis in 2 patients and unilateral agenesis with contralateral hypoplasia in one. The clinical presentations varied: 1 patient had complete secondary sexual development, another had a maternal history of anosmia and delayed puberty, and the third had incomplete pubertal development with a borderline low morning cortisol level. Genetic testing was not performed. The combined clinical, hormonal, and imaging findings were strongly supportive of Kallmann syndrome. Treatment was individualized according to pubertal stage. These cases emphasize the value of systematic olfactory assessment and dedicated evaluation of the olfactory bulbs and sulci on magnetic resonance imaging in females with primary amenorrhea.
SN  - 1930-0433
ER  -