Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism

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...

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Main Authors: Małgorzata Kałużna, Katarzyna Katulska, Katarzyna Ziemnicka, Pola Kompf, Bartłomiej Budny, Paweł Komarnicki, Michał Rabijewski, Jerzy Moczko, Jarosław Kałużny, Marek Ruchała
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Language:English
Published: Bioscientifica 2025-01-01
Series:Endocrine Connections
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Online Access:https://ec.bioscientifica.com/view/journals/ec/14/2/EC-24-0437.xml
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author Małgorzata Kałużna
Katarzyna Katulska
Katarzyna Ziemnicka
Pola Kompf
Bartłomiej Budny
Paweł Komarnicki
Michał Rabijewski
Jerzy Moczko
Jarosław Kałużny
Marek Ruchała
author_facet Małgorzata Kałużna
Katarzyna Katulska
Katarzyna Ziemnicka
Pola Kompf
Bartłomiej Budny
Paweł Komarnicki
Michał Rabijewski
Jerzy Moczko
Jarosław Kałużny
Marek Ruchała
author_sort Małgorzata Kałużna
collection DOAJ
description 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. MRI patterns of the pituitary gland and olfactory system were studied in 46 patients, of whom 29 (63%) were classified on the basis of olfactometry as having Kallmann syndrome (KS) (16 patients with anosmia and 13 patients with hyposmia) and 17 (37%) as having normosmic IHH (nIHH). Results were compared with age- and sex-matched healthy controls. Genetic diagnosis was conducted in all IHH patients based on next-generation sequencing. Results: Almost 70% prevalence of pituitary hypoplasia was observed in IHH subjects. Olfactory bulb (OB) abnormalities were identified in 80.4% of all patients, both the KS (82.8%) and the nIHH (76.5%) subjects. Incidence of unilaterally abnormal, hypoplastic olfactory sulcus (OS) was equally frequent in nIHH and KS. Statistically, piriform cortical thickness was significantly lower in all patient groups than in controls. Conclusions: MRI cannot exclusively differentiate between KS and nIHH, as both conditions may present with OB and OS abnormalities. A surprisingly high frequency of olfactory system abnormalities was observed in nIHH patients, while anterior pituitary hypoplasia was prevalent across all IHH patients. Notably, OB abnormalities were more predominant in KS patients than in those with nIHH.
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spelling doaj-art-dd21177918f84cf7aafb40cbb193ab9d2025-01-25T14:58:15ZengBioscientificaEndocrine Connections2049-36142025-01-0114210.1530/EC-24-04371Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadismMałgorzata Kałużna0Katarzyna Katulska1Katarzyna Ziemnicka2Pola Kompf3Bartłomiej Budny4Paweł Komarnicki5Michał Rabijewski6Jerzy Moczko7Jarosław Kałużny8Marek Ruchała9Department of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, PolandDepartment of General Radiology and Neuroradiology, General Radiology Unit, Poznań University of Medical Sciences, PolandDepartment of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, PolandDepartment of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, PolandDepartment of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, PolandDepartment of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, PolandDepartment of Reproductive Health, Centre of Postgraduate Medical Education, Warsaw, PolandDepartment of Computer Science and Statistics, Poznań University of Medical Sciences, PolandDepartment of Otolaryngology, Head and Neck Surgery, Poznań University of Medical Sciences, PolandDepartment of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, PolandIntroduction 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. MRI patterns of the pituitary gland and olfactory system were studied in 46 patients, of whom 29 (63%) were classified on the basis of olfactometry as having Kallmann syndrome (KS) (16 patients with anosmia and 13 patients with hyposmia) and 17 (37%) as having normosmic IHH (nIHH). Results were compared with age- and sex-matched healthy controls. Genetic diagnosis was conducted in all IHH patients based on next-generation sequencing. Results: Almost 70% prevalence of pituitary hypoplasia was observed in IHH subjects. Olfactory bulb (OB) abnormalities were identified in 80.4% of all patients, both the KS (82.8%) and the nIHH (76.5%) subjects. Incidence of unilaterally abnormal, hypoplastic olfactory sulcus (OS) was equally frequent in nIHH and KS. Statistically, piriform cortical thickness was significantly lower in all patient groups than in controls. Conclusions: MRI cannot exclusively differentiate between KS and nIHH, as both conditions may present with OB and OS abnormalities. A surprisingly high frequency of olfactory system abnormalities was observed in nIHH patients, while anterior pituitary hypoplasia was prevalent across all IHH patients. Notably, OB abnormalities were more predominant in KS patients than in those with nIHH.https://ec.bioscientifica.com/view/journals/ec/14/2/EC-24-0437.xmlisolated hypogonadotropic hypogonadism (ihh)kallmann syndrome (ks)olfactory bulbsolfactory sulcuspituitary hypoplasia
spellingShingle Małgorzata Kałużna
Katarzyna Katulska
Katarzyna Ziemnicka
Pola Kompf
Bartłomiej Budny
Paweł Komarnicki
Michał Rabijewski
Jerzy Moczko
Jarosław Kałużny
Marek Ruchała
Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism
Endocrine Connections
isolated hypogonadotropic hypogonadism (ihh)
kallmann syndrome (ks)
olfactory bulbs
olfactory sulcus
pituitary hypoplasia
title Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism
title_full Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism
title_fullStr Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism
title_full_unstemmed Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism
title_short Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism
title_sort magnetic resonance imaging does not distinguish kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism
topic isolated hypogonadotropic hypogonadism (ihh)
kallmann syndrome (ks)
olfactory bulbs
olfactory sulcus
pituitary hypoplasia
url https://ec.bioscientifica.com/view/journals/ec/14/2/EC-24-0437.xml
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