Search Results (7)

Long COVID (LC) may involve endocrine dysfunction; however, the underlying mechanism remains unclear. To examine hypothalamic–pituitary responses in patients with LC, we conducted a single-center retrospective study of patients with refractory LC referred to our University Hospital who underwent anterior pituitary stimulation tests. Between February 2021 and November 2025, 1251 patients with long COVID were evaluated, of whom 207 (19%) had relatively low random ACTH or cortisol levels. Ultimately, 16 underwent anterior pituitary stimulation tests and were included. All tests were performed in an inpatient setting without exogenous steroids. Fifteen patients (six women, mean age 35.6 years) underwent corticotropin-releasing hormone (CRH), thyrotropin-releasing hormone (TRH), and gonadotropin-releasing hormone (GnRH) tests. All patients had mild acute COVID-19, eight had ≥2 vaccinations, and the mean interval from infection was 343 days. Frequent symptoms included fatigue (100%), insomnia (66.7%), headache (60.0%), anorexia/nausea (40.0%), and brain fog (40.0%). Mean early-morning cortisol and 24 h urinary free cortisol were 7.5 μg/dL and 41.0 μg/day, respectively. MRI showed an empty sella in one case. Peak hormonal responses were preserved (ΔACTH 247%, ΔTSH 918%, ΔPRL 820%, ΔFSH 187%, ΔLH 1150%); however, peaks were delayed beyond 60 min in ACTH (13%), LH (33%), and FSH (87%). Notably, significantly delayed elevations remained at 120 min in the responses of TSH (4.1-fold), PRL (1.8-fold), LH (9.3-fold), and FSH (2.8-fold), suggesting possible hypothalamic involvement, particularly in the gonadotropin responses. Additionally, serum IGF-I was lowered (−0.70 SD), while GH response (mean peak 35.5 ng/mL) was preserved by growth hormone-releasing peptide (GHRP)-2 stimulation. Low-dose hydrocortisone and testosterone were initiated for three patients. Although direct viral effects and secondary suppression have been proposed, our findings may suggest that, at least in part, the observed response characteristics are consistent with functional secondary hypothalamic dysfunction rather than irreversible primary injury. These findings highlight the need for objective endocrine evaluation before initiating hormone replacements. Full article

Background/Objectives: Idiopathic intracranial hypertension (IIH) is an uncommon but clinically important cause of elevated intracranial pressure in children. Conventional MRI findings such as perioptic subarachnoid space (SAS) distension and posterior globe flattening are helpful but may lack sensitivity or specificity in certain cases. Diffusion tensor imaging (DTI), which quantifies white matter microstructure through metrics such as fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD), offers additional diagnostic potential, yet its role in pediatric IIH remains insufficiently defined. Methods: This retrospective case–control study included 26 pediatric patients with IIH and 26 age- and sex-matched controls who underwent brain MRI with DTI between 2010 and 2025. DTI parameters were measured in major white matter tracts, and conventional MRI findings associated with raised intracranial pressure were recorded. Associations between DTI metrics and conventional imaging markers were analyzed using standardized statistical tests. Results: Children with IIH demonstrated significantly reduced FA and increased MD and RD values in several key white matter regions, particularly within the optic radiation, splenium of the corpus callosum, and posterior limb of the internal capsule. FA values showed a negative correlation with perioptic SAS width, while RD and MD were positively correlated with posterior globe flattening and empty sella grade. Receiver operating characteristic analysis identified FA in the optic radiation as the strongest discriminator between IIH and controls (AUC = 0.83). Inter-observer reliability for FA measurements was excellent (ICC = 0.91). Conclusions: Pediatric IIH appears to be associated with pressure-related microstructural alterations in white matter, detectable through DTI. Among the diffusion metrics, FA demonstrated the strongest diagnostic potential and may serve as a complementary tool to conventional MRI. Validation in larger, prospective pediatric cohorts is required to establish its clinical utility. Full article

Background/Objectives: The aim of the study was to prospectively assess the impact of certain parameters of pituitary morphology assessed with the use of magnetic resonance imaging on the occurrence of hormonal disorders in patients with primary partial empty sella (PES) or primary empty sella (ES). Methods: Forty-three patients were divided into two groups: group 1—patients with PES (n = 20); group 2—patients with ES (n = 23). Results: Patients with ES were characterized by larger both the transverse (14.8 ± 2.9 mm vs. 17.2 ± 2.9 mm, p = 0.016) and anteroposterior (AP) diameters of the pituitary (11.4 ± 1.4 mm vs. 13.2 ± 1.9 mm, p = 0.003), a smaller craniocaudal (CC) diameter (3.9 ± 0.62 mm vs. 2.2 ± 0.6 mm, p = 0.001), and a lower pituitary volume (332.8 ± 107.6 mm³ vs. 243.5 ± 70.9 mm³, p = 0.001). Moreover, an AP infundibular displacement was more common in patients with ES (7 [35%] vs. 16 [69.6%]., p = 0.023). Despite the fact that secondary adrenocortical insufficiency was shown to be significantly more common and ACTH levels to be significantly lower (27.5 ± 13.2 pg/mL vs. 21.8 ± 17.6 pg/mL, p = 0.039) in patients with ES (0 [0%] vs. 3 [13.4%], p = 0.046), univariate logistic regression did not reveal any significant associations of pituitary diameters, pituitary volume, or pituitary stalk displacement with endocrine disorders, such as secondary adrenocortical insufficiency or hyperprolactinemia, which was confirmed with multivariate logistic regression adjusted for age, sex, BMI, and arterial hypertension. Conclusions: Radiologically assessed CC, AP, and transverse pituitary diameters, pituitary volume, or pituitary stalk displacement in patients with PES or ES have no bearing on the rates of hormonal disorders. Nonetheless, certain hormonal disorders may be more common in patients with ES, which suggests a need for hormone-level assessments in this population. Full article

Purpose: The purpose of this study was to assess the relationship between the radiological criteria determining an primary empty or primary partial empty sella and the pituitary hormone levels. Methods: Out of 594 patients who underwent pituitary magnetic resonance imaging (MRI), we selected 43 patients with primarily empty and partial empty sella and conducted a prospective evaluation of pituitary MRI in 2022. Pituitary craniocaudal (CC) diameter, pituitary volume, sellar volume, pituitary volume expressed as a percentage of sellar volume (bony sella), and pituitary height expressed as a percentage of sellar height (craniocaudal) were assessed. Serum pituitary hormone concentrations were measured, and a logistic regression analysis was performed to assess a relationship between the radiological and hormonal parameters. Results: Only six patients (14%) exhibited abnormal hormone levels. None of the assessed radiological parameters were correlated with the presence of the hormonal disorders either in the univariate or multivariate logistic regression analysis. The univariate logistic regression analysis revealed a significant relationship between age and the hormonal disorders (OR 0.916 [0.844–0.993]; p = 0.034), but this was not confirmed in the multivariate analysis. Conclusions: These findings suggest that radiological parameters alone are insufficient to predict hormonal dysfunction in patients with empty or partial empty sella. However, younger patients may be at a higher risk, warranting closer hormonal monitoring. Full article

Background/Objectives: Kenny–Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the FAM111A gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. Methods: The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. Results: The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years. Biochemical evaluation at several ages revealed persistent hypocalcemia, high normal phosphorous, and inappropriately low normal PTH. To exclude other causes of short stature, the diagnostic approach revealed low levels of IGF-1, and on CNS MRI, small pituitary gland and empty sella. Nocturnal levels of growth hormone were normal. MRI also revealed bilateral symmetrical microphthalmia and torturous optic nerves. Skeletal survey was compatible with cortical thickening and medullary stenosis of the long bones. Genomic data analysis revealed a well-known pathogenic variant of the FAM111A gene (c.1706G>A, p. R569H), which is linked with KCS2 or nanophthalmos. Conclusions: KCS2, although a rare disease, should be included in the differential diagnosis of hypoparathyroidism and short stature. Understanding the association of pathogenic variants with KCS2 phenotypic variability will allow the advancement of clinical genetics and personalized long-term follow-up and will offer insights into the role of the FAM111A gene in the disease pathogenesis and normal embryogenesis of implicated tissues and organs. Full article

The purpose of this study is to identify salient magnetic resonance imaging (MRI) findings of pediatric IIH, to determine the relevance of these findings with regard to disease pathogenesis, and to relate these findings to the clinical presentation towards identification of risk factors of disease. A retrospective, a case–control study of 38 pediatric patients with and 24 pediatric patients without IIH from the ophthalmology department at a tertiary care center was performed. Clinical data, including ophthalmic findings and lumbar puncture results, were recorded. Neuroimaging, including both MRI and magnetic resonance venography (MRV), was evaluated for perioptic subarachnoid space diameter enlargement, posterior globe flattening, optic nerve head protrusion, empty or partially empty sella turcica, dural venous sinus abnormalities, skull base crowding, and prominent arachnoid granulations. Compared with controls, IIH patients had larger perioptic subarachnoid space diameters, higher incidences of posterior globe flattening, protrusion of the optic nerve heads, an empty sella turcica, and dural venous sinus abnormalities. A perioptic subarachnoid space diameter of ≥5.2 mm was identified as an independent predictor of IIH (p < 0.001) with sensitivity of 87% and specificity of 67%. Several significant MRI findings in pediatric IIH were identified. Using a model that uniquely incorporated clinical and MRI findings at presentation, we provide a framework for risk stratification for the diagnosis of pediatric IIH which may be utilized to facilitate diagnosis. Future prospective work is needed to further validate the model developed in this study. Full article

Nickel (Ni) is a ubiquitous metal, the exposure of which is implied in the development of contact dermatitis (nickel allergic contact dermatitis (Ni-ACD)) and Systemic Ni Allergy Syndrome (SNAS), very common among overweight/obese patients. Preclinical studies have linked Ni exposure to abnormal production/release of Growth Hormone (GH), and we previously found an association between Ni-ACD/SNAS and GH-Insulin-like growth factor 1 (IGF1) axis dysregulation in obese individuals, altogether suggesting a role for this metal as a pituitary disruptor. We herein aimed to directly evaluate the pituitary gland in overweight/obese patients with signs/symptoms suggestive of Ni allergy, exploring the link with GH secretion; 859 subjects with overweight/obesity and suspected of Ni allergy underwent Ni patch tests. Among these, 106 were also suspected of GH deficiency (GHD) and underwent dynamic testing as well as magnetic resonance imaging for routine follow up of benign diseases or following GHD diagnosis. We report that subjects with Ni allergies show a greater GH-IGF1 axis impairment, a higher prevalence of Empty Sella (ES), a reduced pituitary volume and a higher normalized T2 pituitary intensity compared to nonallergic ones. We hypothesize that Ni may be detrimental to the pituitary gland, through increased inflammation, thus contributing to GH-IGF1 axis dysregulation. Full article