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Keywords = sella turcica

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16 pages, 1141 KB  
Article
Evaluation of Sex-Related Morphometry of the Sella Turcica in Autopsy Using Machine Learning
by Ahmet Depreli, Mustafa Furkan Ozturk, Omer Faruk Nasip, Humeyra Yılmaz, Huseyin Ugur Bakan and Necati Emre Sahin
Diagnostics 2026, 16(11), 1596; https://doi.org/10.3390/diagnostics16111596 - 23 May 2026
Viewed by 36
Abstract
Background/Objectives: The sella turcica is a key anatomical landmark due to its close relationship with the pituitary gland and surrounding structures. This study aimed to compare morphometric characteristics of the sella turcica in autopsy cases according to sex and to develop machine [...] Read more.
Background/Objectives: The sella turcica is a key anatomical landmark due to its close relationship with the pituitary gland and surrounding structures. This study aimed to compare morphometric characteristics of the sella turcica in autopsy cases according to sex and to develop machine learning (ML)-based sex estimation models using these measurements. Methods: This study included 230 individuals (115 males, 115 females). Sella turcica morphometric measurements (length, depth, anteroposterior, and transverse diameters) were analyzed. In addition, associations with age, height, and weight were evaluated. Sex differences and correlations were assessed using non-parametric tests. Generalized additive models were applied to evaluate non-linear effects of height and weight, and ML algorithms (LR, RF, SVM, XGBoost) were used for sex classification with 10-fold cross-validation. Results: Data from 230 individuals (115 males, 115 females) were analyzed. All sella turcica dimensions were significantly greater in males (p < 0.001). Height showed strong positive correlations with all measurements, whereas weight showed weaker associations and age was not significant. Generalized additive models demonstrated high performance for length and anteroposterior diameter (adjusted R2 ≈ 0.956), high performance for transverse diameter (R2 = 0.936), and moderate performance for depth (R2 = 0.700), with significant non-linear effects of height and weight. ML models achieved high accuracy (>95%), with SVM performing best (accuracy: 0.991; AUC: 0.997), and transverse diameter identified as the most important predictor. Conclusions: Sella turcica morphometry demonstrates strong sexual dimorphism and is primarily influenced by body size parameters, particularly height. Non-linear modelling approaches such as GAM effectively capture complex anatomical relationships, while ML models, especially SVM, provide promising sex estimation. Among all variables, transverse diameter emerges as the most robust and consistent predictor, highlighting its potential utility in forensic and anthropological applications. Full article
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10 pages, 2446 KB  
Article
Radiographic Clarity of the External Auditory Meatus as a Cranial Reference Point in Spinal Deformity Patients: A Pilot Interobserver Study
by Dongkyu Kim, Dong Kyu Chin, Sejun Park, Jaemin Kim, Insu Lee, Jun-Woo Ha, Hyun Jun Jang, Kyung Hyun Kim, Jeong Yoon Park, Sung Uk Kuh, Keun Su Kim, Pyung Goo Cho and Bong Ju Moon
J. Clin. Med. 2026, 15(8), 2971; https://doi.org/10.3390/jcm15082971 - 14 Apr 2026
Viewed by 385
Abstract
Background/Objectives: The external auditory meatus (EAM) is widely used as a surrogate cranial reference point, based on its proximity to the midpoint of the nasion–inion line (MNI). However, its radiographic clarity has not been thoroughly validated. This study aimed to evaluate the [...] Read more.
Background/Objectives: The external auditory meatus (EAM) is widely used as a surrogate cranial reference point, based on its proximity to the midpoint of the nasion–inion line (MNI). However, its radiographic clarity has not been thoroughly validated. This study aimed to evaluate the radiographic clarity and interobserver reproducibility of the EAM compared with the sella turcica as a control landmark. Methods: A retrospective review was performed on patients who underwent surgical correction for sagittal spinal deformity between 2021 and 2024. Preoperative standing whole-spine radiographs were analyzed. Horizontal and vertical distances from the EAM and the posterior border of the sella turcica to the MNI were measured. Radiographic clarity was categorized into three groups. Five independent neurosurgeons conducted all measurements, and interobserver reliability was assessed using the intraclass correlation coefficient with a two-way random-effects model [ICC(2,1)]. Results: The EAM was horizontally closer to the MNI (1.1 mm vs. 13.8 mm) but exhibited poorer radiographic clarity, with only 14.1% classified as single point and clear compared with 84.5% for the sella turcica. Interobserver reproducibility was lower for the EAM (ICC: 0.84 horizontal, 0.89 vertical) than for the sella turcica (0.97, 0.95). Horizontal deviation among observers was significantly greater for the EAM (major deviation 6.3 mm vs. 2.2 mm, p < 0.001), whereas vertical deviation did not differ significantly. Conclusions: Although anatomically close to the MNI, the EAM demonstrated inferior radiographic clarity and reproducibility. These findings suggest that the EAM may have limitations as a cranial reference landmark. Full article
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16 pages, 2861 KB  
Article
Three-Dimensional Volumetric Evaluation of the Sella Turcica and Sphenoid Sinus in Individuals with Unilateral Palatally Impacted Maxillary Canines Using CBCT
by Manolya İlhanlı, Şerife Tuğçe Hasoğlan, Seçil Aksoy and Kaan Orhan
Diagnostics 2026, 16(7), 1098; https://doi.org/10.3390/diagnostics16071098 - 5 Apr 2026
Viewed by 539
Abstract
Background/Objectives: The sella turcica and sphenoid sinus are anatomically adjacent structures within the cranial base and may reflect variations related to craniofacial development. However, evidence regarding their three-dimensional characteristics in individuals with impacted canines remains limited. This study aimed to evaluate the [...] Read more.
Background/Objectives: The sella turcica and sphenoid sinus are anatomically adjacent structures within the cranial base and may reflect variations related to craniofacial development. However, evidence regarding their three-dimensional characteristics in individuals with impacted canines remains limited. This study aimed to evaluate the morphological, linear, and volumetric characteristics of the sella turcica and sphenoid sinus in individuals with unilateral palatally impacted maxillary canines using cone-beam computed tomography (CBCT). Methods: This study included CBCT scans of individuals with unilateral palatally impacted maxillary canines and a control group. Linear measurements and morphology of the sella turcica were assessed. Sella turcica volume was calculated using both a geometric formula and voxel-based three-dimensional segmentation. Sphenoid sinus pneumatization patterns and volumes were also evaluated. Agreement between volumetric measurement methods was assessed using Bland–Altman analysis, and correlations between sella turcica and sphenoid sinus volumes were also analyzed. Results: Most morphological and volumetric parameters of the sella turcica and sphenoid sinus were comparable between groups. Among the linear measurements, only sella width was significantly greater in the control group, whereas other dimensions showed no significant differences. The distribution of sella turcica morphology and sphenoid sinus pneumatization patterns was similar in both groups. No significant differences were observed in sella turcica or sphenoid sinus volumes. Bland–Altman analysis demonstrated good agreement between geometric and voxel-based volumetric measurements. In addition, no significant correlation was identified between sella turcica and sphenoid sinus volumes. Conclusions: Unilateral palatally impacted maxillary canines were not associated with substantial morphological or volumetric alterations of the sella turcica or sphenoid sinus. These findings suggest that variations in these cranial base structures have limited value as indicators of unilateral palatal canine impaction. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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29 pages, 569 KB  
Review
Sellar Lesions: Novel Aspects in Diagnosis and Management
by Georgios Kostopoulos, Evangelia S. Makri, Efstathios Divaris and Zoe A. Efstathiadou
Cancers 2026, 18(6), 1029; https://doi.org/10.3390/cancers18061029 - 23 Mar 2026
Cited by 1 | Viewed by 675
Abstract
In this comprehensive review, we explore the evolving landscape of research and clinical practices in sellar lesions, emphasizing recent advancements in histopathology and molecular biology. Distinct lesions can arise from the sellar area, predominantly comprising different tumor types, inflammatory conditions, or systemic conditions. [...] Read more.
In this comprehensive review, we explore the evolving landscape of research and clinical practices in sellar lesions, emphasizing recent advancements in histopathology and molecular biology. Distinct lesions can arise from the sellar area, predominantly comprising different tumor types, inflammatory conditions, or systemic conditions. The recent CNS5 World Health Organization classification integrates genetic modifications into histopathological characteristics, enhancing the ability to predict the biological behavior and malignant potential of these lesions. Furthermore, the molecular alterations discovered in these tumors may act as valuable diagnostic and prognostic indicators, facilitating a tailored approach, especially for those demonstrating aggressive characteristics resistant to conventional treatments. The scope of the present review is to provide a comprehensive insight into the current understanding of sellar lesions with regard to emerging prognostic factors, like molecular alterations, to advances in clinical strategies, and to identification of potential new therapeutic targets within the oncology field. Full article
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14 pages, 1132 KB  
Article
Sella Turcica Shape as a Marker for Breed and Sex Classification in Sheep
by Eylem Bektaş Bilgiç, Tomasz Szara, Ozan Gündemir, Zuzanna Kaska, Muhammed Taha Temir, Barış Can Güzel, Fatma İşbilir, Emine İrem Deveci, Alexandra-Andreea Cherșunaru and Mihaela-Claudia Spataru
Vet. Sci. 2026, 13(3), 290; https://doi.org/10.3390/vetsci13030290 - 19 Mar 2026
Viewed by 438
Abstract
Recent anatomical and morphometric studies indicate that the sella turcica is a structurally informative region and a distinctive anatomical formation that can exhibit shape variation among individuals. The aim of this study was to evaluate, in three dimensions, the extent to which sella [...] Read more.
Recent anatomical and morphometric studies indicate that the sella turcica is a structurally informative region and a distinctive anatomical formation that can exhibit shape variation among individuals. The aim of this study was to evaluate, in three dimensions, the extent to which sella turcica morphology differs among three sheep breeds (Akkaraman, Morkaraman, Zom) and between sexes. A total of 102 specimens were examined. All skulls were CT-scanned specifically for this study; the sella turcica region was reconstructed as a three-dimensional model, and 12 anatomical landmarks were manually digitized for each specimen. The findings showed that sella turcica size differed among breeds, with the Zom group exhibiting the largest sella turcica size. In contrast, no clear size difference was observed between females and males. Shape assessment also revealed differences among breeds, largely driven by the separation of Zom from Akkaraman and Morkaraman, whereas no distinct sex-related shape pattern was detected. Importantly, the breed-related shape differences persisted after accounting for size effects. Overall, these results suggest that the sella turcica carries a breed-associated morphological signal in sheep, while showing no pronounced sexual differentiation in the present sample. Full article
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11 pages, 719 KB  
Systematic Review
Shape and Morphology of the Sella Turcica in Patients with Trisomy 21—A Systematic Review
by Magda Mazuś, Agnieszka Szemraj-Folmer, Marcin Stasiak and Michał Studniarek
Diagnostics 2026, 16(1), 22; https://doi.org/10.3390/diagnostics16010022 - 21 Dec 2025
Cited by 1 | Viewed by 746
Abstract
Background/Objectives: The sella turcica (ST) is a central craniofacial and endocrinological landmark whose morphology reflects both local skeletal development and systemic influences. Alterations in its form have been observed in various genetic syndromes, including trisomy 21 (Down syndrome, DS). Considering the characteristic craniofacial [...] Read more.
Background/Objectives: The sella turcica (ST) is a central craniofacial and endocrinological landmark whose morphology reflects both local skeletal development and systemic influences. Alterations in its form have been observed in various genetic syndromes, including trisomy 21 (Down syndrome, DS). Considering the characteristic craniofacial morphology of DS, this review aimed to evaluate whether individuals with DS present distinctive morphometric features and shape variants of the ST compared with non-syndromic populations and to discuss their diagnostic and clinical relevance. Methods: A systematic literature search was carried out in PubMed, the Cochrane Library, Web of Science, Wiley, MDPI, and Google Scholar on 8 May 2024. Search terms included “sella turcica,” “Down syndrome,” and “morphology.” Studies employing lateral cephalograms, cone-beam computed tomography (CBCT), or computed tomography (CT) to assess ST morphology were included when quantitative or qualitative comparisons with control groups were available. The review followed the PRISMA 2020 guidelines and was prospectively registered in PROSPERO (CRD42024580071). Results: Only six studies fulfilled the inclusion criteria. Increased ST dimensions and a predominance of U-shaped and J-shaped variants in individuals with DS compared with controls were most frequently reported. Although the studies differed in methodology, the findings consistently indicated characteristic enlargement and remodeling of the ST in trisomy 21. Conclusions: Individuals with Down syndrome exhibit distinctive sella turcica morphology characterized by increased size and specific shape variants. The evidence base remains small and heterogeneous, with few observational studies and mixed age groups and imaging modalities, which limits the strength and generalizability of the conclusions. The present study aims to provide a modern, updated systematic review of current evidence on sella turcica morphology in patients with Down syndrome, to identify reported patterns of variation, and to explore their clinical and diagnostic significance. Recognition of these features enhances diagnostic accuracy in craniofacial evaluation, facilitates comprehensive orthodontic, endocrine, and oncological assessment, and advances understanding of cranial base development within the context of genetic syndromes. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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16 pages, 1030 KB  
Article
Hyperostosis Cranii Ex Vacuo in Shunted Children: A Proposed Fifth Subtype of CSF Overdrainage Syndrome
by Mateusz Zajączkowski, Łukasz Klasa, Olga Milczarek and Stanisław Kwiatkowski
Int. J. Transl. Med. 2025, 5(4), 51; https://doi.org/10.3390/ijtm5040051 - 28 Oct 2025
Viewed by 1610
Abstract
Background: Cerebrospinal fluid (CSF) shunting remains a crucial intervention in the treatment of paediatric hydrocephalus. Overdrainage syndrome is a well-recognised but potentially severe complication, in which hyperostosis cranii ex vacuo—diffuse thickening of the cranial bones—emerges as an adaptive response to chronic intracranial hypotension. [...] Read more.
Background: Cerebrospinal fluid (CSF) shunting remains a crucial intervention in the treatment of paediatric hydrocephalus. Overdrainage syndrome is a well-recognised but potentially severe complication, in which hyperostosis cranii ex vacuo—diffuse thickening of the cranial bones—emerges as an adaptive response to chronic intracranial hypotension. Currently, no established diagnostic criteria exist to reliably identify and classify this phenomenon, nor are there defined strategies to prevent associated complications of reduced intracranial compliance. Objective: This study aimed to characterise the morphoradiological and clinical phenotype of hyperostosis cranii ex vacuo in paediatric patients with long-term shunt dependency and to propose its classification as a fifth subtype of CSF overdrainage syndrome with direct implications for long-term neurosurgical care. Methods: A retrospective observational study was conducted on nine paediatric patients with radiologically confirmed diffuse calvarial thickening secondary to surgical treatment of hydrocephalus. Quantitative morphometric analysis of frontal, parietal, and occipital bones, sella turcica dimensions, and dural enhancement was performed using high-resolution neuroimaging. Clinical records were reviewed for hydrocephalus aetiology, shunt revision history, and neurological impairment. Results: All patients exhibited a mean two-fold increase in age-adjusted calvarial thickness. Premature craniosynostosis was identified in 33.3% of cases. Diffuse pachymeningeal enhancement was noted in all patients with contrast-enhanced imaging. Neurological comorbidities included epilepsy, spastic paraparesis, and features of Chiari type I malformation. Conclusions: Hyperostosis cranii ex vacuo represents a distinct and underrecognised consequence of chronic CSF overdrainage. We propose preliminary diagnostic criteria and a structured management pathway—from radiological recognition through ICP assessment to tiered surgical intervention. Formal recognition of this entity as a fifth subtype of CSF overdrainage syndrome may enhance early diagnosis, improve risk stratification, and guide long-term surveillance of shunted children. Full article
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13 pages, 1244 KB  
Article
Sella Turcica and Cranial Base Symmetry in Anterior Synostotic Plagiocephaly Patients: A Retrospective Case–Control Study
by Edoardo Staderini, Davide Guerrieri, Michele Tepedino, Gianmarco Saponaro, Alessandro Moro, Giulio Gasparini, Patrizia Gallenzi and Massimo Cordaro
Diagnostics 2025, 15(17), 2199; https://doi.org/10.3390/diagnostics15172199 - 29 Aug 2025
Viewed by 1128
Abstract
Background/Objectives: The present case–control study aims to compare the symmetry of the sella turcica and cranial base of nine patients with anterior unicoronal synostotic plagiocephaly (ASP) and nine healthy patients referred to the maxillofacial unit of the Fondazione Policlinico Universitario Agostino Gemelli. [...] Read more.
Background/Objectives: The present case–control study aims to compare the symmetry of the sella turcica and cranial base of nine patients with anterior unicoronal synostotic plagiocephaly (ASP) and nine healthy patients referred to the maxillofacial unit of the Fondazione Policlinico Universitario Agostino Gemelli. The primary aim of this study is to assess changes in the morphology of the sella turcica and skull base in comparison with a healthy control population using both a 2D and 3D analysis of the sella turcica and skull base. Methods: Computed tomography (CT) scans of nine ASP patients from the Fondazione Policlinico Universitario Agostino Gemelli in Rome were retrieved. A quantitative evaluation of the skull base and the sella turcica was performed through the asymmetry index (A.I.), obtained from the comparison of the point-to-point distances ipsilateral and contralateral to the synostosis. A qualitative three-dimensional (3D) evaluation of the asymmetry of the sella turcica was performed by comparing each sella model with its mirrored counterpart; then, the root mean square (RMS) displacement between the original and mirrored 3D models was calculated. Results: The results showed higher A.I. values in the study group, particularly the length of the anterior cranial fossa, with A.I. values of 7.96 (study) vs. 0.02 (control). Conclusions: The higher values of the asymmetry index observed in the study group supported the presence of statistically significant asymmetries in the sella and cranial fossa measurements compared to the control group. Full article
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11 pages, 796 KB  
Case Report
The Double-Edged Nature of the Gonadotropin-Releasing Hormone Agonist (GnRHa) Long Protocol: A Case of Paradoxical Ovarian Hyperstimulation During the Expected Downregulation Phase
by Bernadett Nádasdi, Péter Kovács, Éva Adrienn Csajbók, Károly Wellinger, Anna Vágvölgyi and János Zádori
J. Clin. Med. 2025, 14(14), 4992; https://doi.org/10.3390/jcm14144992 - 15 Jul 2025
Viewed by 2393
Abstract
Objectives: Our aim is to report an uncommon pituitary activation occurring during the desensitization phase of the gonadotropin-releasing hormone agonist (GnRHa) long protocol, a cornerstone of medically assisted reproduction (MAR) therapy, in a young woman. Results: We present a case of [...] Read more.
Objectives: Our aim is to report an uncommon pituitary activation occurring during the desensitization phase of the gonadotropin-releasing hormone agonist (GnRHa) long protocol, a cornerstone of medically assisted reproduction (MAR) therapy, in a young woman. Results: We present a case of a 33-year-old female patient with secondary infertility, who exhibited a prolonged and asynchronous follicular development during ovarian stimulation using the GnRH antagonist protocol. Therefore, during a repeat attempt, the long GnRH agonist protocol was employed. Surprisingly, rather than achieving suppression with the agonist, ultrasound detected many large follicles in both ovaries, accompanied by extremely elevated estrogen levels, indicating imminent ovarian hyperstimulation syndrome (OHSS). This unusual phenomenon was also observed during a subsequent attempt using the long protocol in another reproductive center. As part of the work-up to identify the underlying etiology, contrast-enhanced magnetic resonance imaging (MRI) of the sella turcica was performed, which revealed an 11 × 13 × 10 mm pituitary macroadenoma without evidence of pathological hormone secretion. The luteinizing hormone-releasing hormone (LHRH) stimulation test showed a normal luteinizing hormone and follicle-stimulating hormone response. Other abnormalities of the hypothalamo–hypophyseal–target-organ axis were not found. Neurosurgical intervention was deemed unnecessary; radiological follow-up of the lesion was recommended. Conclusions: In this case, the clinical presentation was markedly different from the expected suppressive effects of GnRH agonist therapy, with profoundly elevated estrogen levels and clinical signs of imminent OHSS. Notably, hypersensitivity of the adenohypophysis was not demonstrated following a single physiological LHRH stimulation test. However, the presence of a pituitary adenoma identified on MRI raises the possibility that gonadotropin receptor function was altered by the lesion—an effect revealed only after repeated GnRH agonist exposure, resulting in a paradoxical stimulatory response. Full article
(This article belongs to the Section Endocrinology & Metabolism)
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15 pages, 2196 KB  
Article
Phenotypic Craniofacial and Upper Spine Characteristics in Patients with Obstructive Sleep Apnoea
by Anne Marie Aavang Arvidson and Liselotte Sonnesen
Dent. J. 2025, 13(3), 136; https://doi.org/10.3390/dj13030136 - 20 Mar 2025
Viewed by 1646
Abstract
Background/Objectives: This study investigates differences in craniofacial morphology including skull thickness, sella turcica morphology, nasal bone length, and posterior cranial fossa dimensions, as well as differences in head posture and deviations in upper spine morphology, in adult OSA patients compared to healthy [...] Read more.
Background/Objectives: This study investigates differences in craniofacial morphology including skull thickness, sella turcica morphology, nasal bone length, and posterior cranial fossa dimensions, as well as differences in head posture and deviations in upper spine morphology, in adult OSA patients compared to healthy controls with neutral occlusion. Methods: 51 OSA patients (34 men, 17 women, mean age 51.9 ± 11.3 years) and 74 healthy controls (19 men, 55 women, mean age 38.7 years ± 14.0 years) with neutral occlusion were included. Craniofacial morphology and head posture were investigated using cephalometric measurements on lateral cephalograms and morphological deviations in sella turcica and upper spine were assessed through visual description of lateral cephalograms. Results: OSA patients had significantly more retrognathic maxilla (p = 0.02) and mandible (p = 0.032 and p = 0.009), significantly larger beta-angle (p = 0.006), and significantly smaller jaw angle (p = 0.045) compared to controls. OSA patients had significantly larger length (p = 0.003, p = 0.001, p = 0.044) and depth of the posterior cranial fossa (p < 0.001) compared to controls. OSA patients had a significantly more extended (p < 0.001) and forward-inclined head posture (p < 0.001) and morphological deviations in the upper spine occurred significantly more often in OSA patients compared to controls (p = 0.05). No significant differences in skull thickness, nasal bone length, and morphological deviations in the sella turcica (p = 0.235) were found between the groups. Conclusions: Significant deviations were found in craniofacial morphology, head posture, and morphological deviations in the upper spine. The results may prove valuable in the diagnostics of OSA patients and in considerations regarding etiology and the phenotypic differentiation of OSA patients. Full article
(This article belongs to the Special Issue Dentistry in the 21st Century: Challenges and Opportunities)
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17 pages, 2013 KB  
Article
Fungal Sinusitis Spreading to the Sellar Region Mimicking a Pituitary Tumor: Case Report and Literature Review
by Sandra Pekic Djurdjevic and Valentina Arsic Arsenijevic
J. Fungi 2025, 11(3), 233; https://doi.org/10.3390/jof11030233 - 19 Mar 2025
Cited by 2 | Viewed by 3108
Abstract
Chronic fungal sinusitis (FS) can cause bone erosion and extend to the sellar region, often misdiagnosed as pituitary tumors or malignancies. We report a 56-year-old immunocompetent female with sphenoid FS presenting as a giant sellar mass compressing the optic chiasm, with normal pituitary [...] Read more.
Chronic fungal sinusitis (FS) can cause bone erosion and extend to the sellar region, often misdiagnosed as pituitary tumors or malignancies. We report a 56-year-old immunocompetent female with sphenoid FS presenting as a giant sellar mass compressing the optic chiasm, with normal pituitary function. The surgery successfully resolved her symptoms, and a histological examination confirmed the presence of a fungal hyphal mass. We conducted a literature review of 52 publications on FS cases with bone erosion and inflammatory extension to the sellar region, which included analyses of 67 patients (35 females, mean age 49.6 years, half immunocompetent). The most common symptom was headache (73.1%), followed by visual complaints (71.7%), visual deterioration (40.3%), ophthalmoplegia (38.8%), and visual field defects (13.4%). Symptom duration averaged 4.5 months in 65.7% of cases. Aspergillus was the most frequent (71.6%). Hormonal abnormalities included hypopituitarism (25.4%) and hyperprolactinemia (13.4%). Surgery was performed in 92.5% of patients. Common diagnoses included pituitary abscess (41.8%), fungal granuloma (16.4%), aspergillosis (16.4%) and allergic FS (14.9%). Antifungal therapy was administered in 53.7% of cases. Cure was achieved in 67.2%, while the mortality rate was 10.4%. Early recognition of fungal involvement, supported by a multidisciplinary approach, is essential for the accurate diagnosis and effective treatment. This highlights the need for vigilance to improve the outcomes in similar cases. Full article
(This article belongs to the Special Issue Diagnosis and Management of Human Mold Infections)
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17 pages, 5264 KB  
Case Report
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant
by Claudia Santoro, Francesca Aiello, Antonella Farina, Emanuele Miraglia del Giudice, Filomena Pascarella, Maria Rosaria Licenziati, Nicola Improda, Giulio Piluso, Annalaura Torella, Francesca Del Vecchio Blanco, Mario Cirillo, Vincenzo Nigro and Anna Grandone
Children 2025, 12(3), 364; https://doi.org/10.3390/children12030364 - 14 Mar 2025
Viewed by 1777
Abstract
Background: Multiple genes can disrupt hypothalamic–pituitary axis development, causing multiple pituitary hormone deficiencies (MPHD). Despite advances in next-generation sequencing (NGS) identifying over 30 key genes, 85% of cases remain unsolved, indicating complex genotype–phenotype correlations and variable inheritance patterns. Objective: This study aimed to [...] Read more.
Background: Multiple genes can disrupt hypothalamic–pituitary axis development, causing multiple pituitary hormone deficiencies (MPHD). Despite advances in next-generation sequencing (NGS) identifying over 30 key genes, 85% of cases remain unsolved, indicating complex genotype–phenotype correlations and variable inheritance patterns. Objective: This study aimed to identify the MPHD genetics in three probands from two unrelated families. Methods: Family A had one affected child, while Family B had two affected siblings. All probands exhibited poor growth since birth, and family B’s probands were born small for gestational age. Growth hormone deficiency was confirmed in all subjects. Family B’s probands responded poorly to growth hormone treatment compared to the first patient. Furthermore, Family A’s proband and Family B’s younger sibling developed central hypothyroidism, while Family B’s older sibling presented hypogonadotropic hypogonadism. Brain magnetic resonance imaging (MRI) revealed pituitary hypoplasia, ectopic posterior pituitary gland, and small sella turcica in all probands. Patients and their available relatives underwent NGS. Results: NGS identified the same novel and likely pathogenic LHX4 variant (c.481C>G) in all probands despite the families being unrelated. Additionally, Family A’s proband carried a GLI2 variant (c.2105C>A), and Family B’s probands carried an IGF1R variant (c.166G>A), both interpreted as being of uncertain significance. Conclusions: This study confirms that heterozygous pathogenic variants of LHX4 can cause MPHD associated with a specific neuroradiological triad of abnormalities despite incomplete penetrance and variable phenotype. Moreover, the co-occurrence of the other two gene variants was debated. The IGF1R variant could explain the unusually poor response to growth hormone therapy in Family B, suggesting an oligogenic mechanism underlying the phenotype. Full article
(This article belongs to the Special Issue Pediatric Growth and Skeletal Disorders)
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15 pages, 905 KB  
Article
Does a Transcriptionally Active HPV Infection Affect the Invasiveness of Pituitary Neuroendocrine Tumors? A Case Series Study of 60 Patients in Krakow, Poland
by Anna Krzentowska, Beata Biesaga, Ryszard Czepko, Dariusz Adamek, Anna Merklinger-Gruchała and Filip Gołkowski
Cancers 2025, 17(4), 684; https://doi.org/10.3390/cancers17040684 - 18 Feb 2025
Viewed by 1244
Abstract
Background/Objective: Pituitary neuroendocrine tumors (PITNETs) often show a tendency towards invasive behavior, i.e., an invasion towards the cavernous sinuses or destruction of the sella turcica. In the present study, we analyzed whether a transcriptionally active HPV infection affects the invasiveness of pituitary tumors. [...] Read more.
Background/Objective: Pituitary neuroendocrine tumors (PITNETs) often show a tendency towards invasive behavior, i.e., an invasion towards the cavernous sinuses or destruction of the sella turcica. In the present study, we analyzed whether a transcriptionally active HPV infection affects the invasiveness of pituitary tumors. Methods: Sixty patients with different phenotypes of PITNETs who underwent neurosurgery were studied. The obtained postoperative material was analyzed histopathologically. For each patient, formalin-fixed paraffin-embedded blocks were cut into ultra-thin slices and two to three of them were designated for DNA extraction, while one was used for histological slides. Based on the isolated DNA, the presence of DNA from individual HPV types was determined by the real-time detection polymerase chain reaction using the REALQUALITY RQ-Multi HPV Detection reagent kit (AB ANALITICA, Italy). P16 protein expression was assessed by immunohistochemical staining on the histological slides. A transcriptionally active infection with individual HPV types was distinguished when HPV DNA and P16 protein overexpression were detected simultaneously for a given tumor. Results: In the group of the 60 analyzed PITNETs, a transcriptionally active high-risk HPV infection was detected in a subset of 11 tumors (18.3%). This infection was associated with a significantly lower probability of tumor invasiveness, measured on both the Knosp (OR = 0.11, 95% CI: 0.02–0.58) and Hardy scales (OR = 0.12 95% CI: 0.024–0.56). Conclusions: Further studies are needed to confirm the prevalence of transcriptionally active HPV infections in pituitary adenomas and the role of these infections in the invasiveness of pituitary tumors. Full article
(This article belongs to the Section Cancer Biomarkers)
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20 pages, 649 KB  
Article
Radiological and Immunohistochemical Characteristics of PitNETs in 79 Patients Undergoing Neurosurgery
by Anna Krzentowska, Ryszard Czepko, Dariusz Adamek, Michał Filipowicz, Elżbieta Broniatowska and Filip Gołkowski
Cancers 2025, 17(4), 666; https://doi.org/10.3390/cancers17040666 - 16 Feb 2025
Cited by 2 | Viewed by 1556
Abstract
The human pituitary is a gland located within a small bony box, the sella turcica, under the base of the brain [...] Full article
(This article belongs to the Section Cancer Causes, Screening and Diagnosis)
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13 pages, 5929 KB  
Article
Evidence of Morphological and Morphometric Differences in the Sella Turcica of Pteronotus mesoamericanus and P. mexicanus
by M. A. Peralta-Pérez and M. Briones-Salas
Animals 2025, 15(4), 519; https://doi.org/10.3390/ani15040519 - 12 Feb 2025
Cited by 1 | Viewed by 2436
Abstract
Morphological modifications are a potential mechanism for functional species and phylogenetic diversification. The sella turcica in mammals is a structure associated with the basisphenoid bone and serves as the receptacle for the pituitary gland; however, little is known about the morphological variation that [...] Read more.
Morphological modifications are a potential mechanism for functional species and phylogenetic diversification. The sella turcica in mammals is a structure associated with the basisphenoid bone and serves as the receptacle for the pituitary gland; however, little is known about the morphological variation that may affect functionality in chiropterans. In this study, we provide morphological and morphometric evidence of differences between populations of Pteronotus mesoamericanus [the Gulf of Mexico] and P. mexicanus [the Pacific Coast] by describing variations in the dimensions of the dorsum sellae and the processus clinoideus caudalis of the sella turcica. We obtained 20 a priori designed measurements of the dorsum of the sella turcica from 243 skulls of both species from various locations in Mexico. The dorsum sellae were found at an average distance of 3.4 mm from the lower edge of the foramen magnum. The dorsum of the sella turcica has a truncated pyramidal shape, with the processus clinoideus caudalis located at the tip of the pyramid. Ten of the measurements obtained were found to be significant for both regions (the Pacific Coast and the Gulf of Mexico). We propose that these measurements be tested in future studies of populations from the Mormoopidae family in the Antilles, Central America, and South America for comparative purposes, and to help distinguish different lineages and functions. Full article
(This article belongs to the Section Mammals)
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