Hamide Piskinpasa

Pituitary stalk interruption syndrome is usually diagnosed during childhood, and data on outcomes in adulthood are limited. This retrospective, single-center study evaluated the diagnostic history, endocrine phenotype, and clinical outcomes of 14 adults with radiologically confirmed pituitary stalk interruption syndrome. The cohort comprised eight men and six women, with a mean age of 28.8±6.4 years and a mean documented follow-up at our center of 5.6±3.2 years. Hypopituitarism was diagnosed during childhood in 12 patients and during adulthood in 2 patients. Thirteen patients had deficiencies of all four anterior pituitary hormone axes, whereas one patient had growth hormone and gonadotropic deficiencies with preserved corticotropic and thyrotropic functions. In six patients diagnosed during childhood, pituitary stalk interruption syndrome was recognized only after later reassessment of pituitary imaging. Eleven patients received growth hormone treatment during childhood, and 13 of 14 patients reached their calculated target height. Metabolic dysfunction–associated steatotic liver disease and dyslipidemia were each present in 10 patients. Four patients had bone mineral density below the expected range for age. One female patient achieved a live birth following in vitro fertilization. In this real-world cohort, the skeletal and metabolic findings observed despite generally favorable growth outcomes support the need for lifelong endocrine follow-up.

Background/Objectives: Mild autonomous cortisol secretion (MACS) is associated with increased cardiometabolic morbidity, but its relationship with the retinal microcirculation is unknown. We compared retinal and peripapillary microvascular parameters between MACS and nonfunctioning adrenal adenoma (NFA) and, secondarily, examined their associations with continuously modeled post-dexamethasone cortisol. Methods: In this single-center, retrospective, cross-sectional study, 98 patients (45 NFA, 53 MACS) were included, and optical coherence tomography angiography (OCTA) and structural OCT data from one eye per patient were analyzed. The primary outcome was whole-image deep capillary plexus (DCP) vessel density. Multivariable models were adjusted for age, sex, body mass index, and cardiometabolic comorbidities; secondary analyses were corrected using the Benjamini–Hochberg false discovery rate (q values). Results: OCTA was evaluable in 89 patients. The primary outcome did not differ significantly between groups in the main analysis (NFA vs. MACS, 48.64 ± 5.71% vs. 47.31 ± 5.77%; adjusted difference −1.29 percentage points, 95% CI −3.97 to 1.38; p = 0.339) or in any sensitivity analysis. In secondary analyses, superior retinal nerve fiber layer (RNFL) thickness was greater in MACS (β = 17.38 µm; q < 0.001) and increased with ln(post-dexamethasone cortisol) (β = 13.74 µm; q = 0.010). Higher ln(post-dexamethasone cortisol) was also associated with lower parafoveal DCP (β = −2.72 percentage points; p = 0.013) and inside-disc radial peripapillary capillary vessel density (β = −3.13 percentage points; p = 0.026), which did not survive multiplicity correction; no superficial capillary plexus sector was associated with either exposure (all p ≥ 0.37). Conclusions: MACS was not significantly associated with whole-image DCP vessel density. The secondary associations with continuous cortisol are cross-sectional and hypothesis-generating and require prospective confirmation.

The potential association between mild autonomous cortisol secretion and psychopathological symptoms remains inadequately studied. This study aimed to investigate whether women with mild autonomous cortisol secretion exhibit greater psychological symptom severity and distress compared with patients with nonfunctional adrenal adenomas, as assessed by multidimensional self-report scales including the Beck Depression Inventory-II, Beck Anxiety Inventory, and Symptom Checklist‑90. A cross-sectional study was conducted at the endocrinology department of a tertiary-care hospital in Turkey between June 2022 and 2025. The study cohort included 91 women with adrenal adenomas, comprising 50 patients with mild autonomous cortisol secretion and 41 patients with nonfunctional adrenal adenoma. Questionnaire-derived scores from the 10 subscales and Global Severity Index of the Symptom Checklist-90, as well as the Beck Anxiety Inventory and Beck Depression Inventory-II, along with hormonal parameters, including morning cortisol, adrenocorticotropic hormone, dehydroepiandrosterone sulfate, 1-mg dexamethasone-suppressed cortisol, 24-hour urinary free cortisol, the dehydroepiandrosterone sulfate ratio, and the cortisol/dehydroepiandrosterone sulfate ratio, were compared between the groups. Women with mild autonomous cortisol secretion exhibited higher overall psychological distress, as measured by the Global Severity Index of the Symptom Checklist-90. Depressive (Beck Depression Inventory-II) and anxiety (Beck Anxiety Inventory) symptoms did not differ significantly between groups, although a non-significant pattern suggested that depressive symptom severity may increase with higher basal cortisol levels. No significant associations were found between hormonal parameters and psychological scores. These findings indicate that patients with mild autonomous cortisol secretion may experience increased general psychological distress, highlighting the importance of considering mental health in their clinical evaluation and warranting further research into the relationship between mild cortisol excess and specific psychiatric symptoms.

Objective: The utility of the 1-mg overnight dexamethasone suppression test (DST) for assessing dehydroepiandrosterone sulfate (DHEA-S) suppressibility is not well defined. Hence, this study aimed to assess DHEA-S response and identify predictors of non-suppression in hirsute women with elevated DHEA-S levels. Subjects and methods: This retrospective study included 362 hirsute women with elevated DHEA-S. Suppression was defined as a post-DST DHEA-S level normalized to the age-specific upper limit of normal (ULN) or a decrease of 50% from baseline. Patients were classified as suppressed (Group 1) or non-suppressed (Group 2). Logistic regression and receiver operating characteristic curve analysis were used to identify predictors of suppression, including the “percent excess” (% excess) above the ULN. Results: DHEA-S was suppressed in 65.5% of patients (Group 1), while 34.5% was not (Group 2). The non-suppressed group had significantly higher levels of total testosterone, a greater frequency of total testosterone >ULN, and higher 17-hydroxyprogesterone (17-OHP) levels. No differences were observed in luteinizing hormone, follicle-stimulating hormone, or homeostatic model assessment of insulin resistance. Logistic regression confirmed that both % excess (odds ratio [OR] = 0.947) and DHEA-S levels >700 μg/dL (OR = 0.069) were inversely associated with suppression. Receiver operating characteristic analysis for % excess showed good predictive performance (area under the curve = 0.827), with an optimal cut-off of 32.22%. Conclusion: Hirsute women with elevated DHEA-S, 34.5% exhibited a lack of DHEA-S suppression on the 1-mg DST. The % excess (cut-off >32.22%) and an absolute DHEA-S threshold of >700 μg/dL may help identify this subgroup, which was associated with higher total testosterone and 17-OHP levels despite similar luteinizing hormone levels. Overall, the lack of DHEA-S suppression on the 1-mg DST, together with higher total testosterone and 17-OHP despite similar luteinizing hormone, suggests a possible functional adrenal contribution to the hyperandrogenic phenotype.

Objective: To evaluate the effects of the pandemic process on those with an endocrinological disease that will require close follow-up from the last visit before the pandemic. Materials and methods: Patients of 3,903 with thyroid, calcium-bone metabolism, adrenal gland, pituitary diseases, and neuroendocrine tumor (NET) were retrospectively scanned. The remaining 855 (656 females and 199 males) patients with active disease or who still needed multidisciplinary approaches were included. The number of patients who continued the disease-related medical procedures and [...] ABSTRACT Objective: To evaluate the effects of the pandemic process on those with an endocrinological disease that will require close follow-up from the last visit before the pandemic. Materials and methods: Patients of 3,903 with thyroid, calcium-bone metabolism, adrenal gland, pituitary diseases, and neuroendocrine tumor (NET) were retrospectively scanned. The remaining 855 (656 females and 199 males) patients with active disease or who still needed multidisciplinary approaches were included. The number of patients who continued the disease-related medical procedures and

The aim of the study was to compare the IGF-1 levels, metabolic and clinical parameters among the ultrasonographically classified non-alcoholic fatty liver disease (NAFLD) groups and determine the factors that may predict the NAFLD severity in patients with morbid obesity. This study was conducted on 316 morbidly obese patients (250 F/66 M). The data of patients before and 1st-year after bariatric surgery were recorded. According to the ultrasonographically NAFLD screening, patients with normal hepatic features were classified as Group 1(n=57), with mild and moderate NAFLD were classified as Group 2(n=219), and with severe NAFLD were classified as Group 3(n=40). IGF-1 standard deviation scores (SDSIGF1) were calculated according to age and gender. Parameters that could predict the presence and severity of NAFLD were evaluated. IGF-1 levels were significantly associated with Group 3 than Group 1(p=0.037), and the significance remained between the same groups when IGF-1 levels were standardized as SDSIGF1(p=0.036). Decreased levels of SDSIGF1 explained 5% of severe NAFLD than the normal group (p=0.036). Liver Diameter, FPG, ALT, AST, and GGT were also found as significant predictors for severe NAFLD. There were significant differences between pre-and postop values in all groups (p<0.001). This study showed that IGF-1 might be considered a sgnificant predictor of severe NAFLD in morbidly obese patients. It is crucial in clinical practice to determine predictive factors of NAFLD that could support the diagnosis accompanied by non-invasive imaging methods.

Objectives: We aimed to determine the relationship of Lyso-Gb1 levels, bone biomarkers, and mutation findings with bone marrow burden (BMB) scores. Methods: Lyso-Gb1 and bone biomarkers, and BMB scores of 10 Gaucher type 1 (GD1) patients under enzyme therapy were prospectively evaluated. Results: Ten GD1 patients, aged between 4.5 and 40 (mean 23 ± 11 years), were included in the study. Four patients were homozygous for L444P/L444P, and six patients were compound heterozygous for N370S/R415H. We found positive correlations between pain and BMB scores with Lyso-Gb1 levels (r=0.889, p=0.001 and r=0.701, p=0.035, respectively). There were negative correlations between bone mineral density (BMD) of both the lumbar spine and femoral neck between Lyso-Gb1 levels (r=−0.929, p=0.001 and r=−0.893, p=0.007, respectively). Patients with L444P/L444P mutation had higher Lyso-Gb1 levels and BMB, pain scores and lower BMD measurements than patients with N370S/R415H (p=0.01, p=0.02, p=0.03, p=0.04, p=0.04, respectively). Conclusions: There was an apparent correlation between, Lyso-Gb1 levels, BMB scores and genotype in evaluating bone involvement in Gaucher patients.

Objectives: Gaucher disease type 1 (GD1) and Fabry disease (FD) are the two most common lysosomal storage diseases. For over three decades, effective enzyme replacement therapies (ERTs) have changed the fate of patients and offered a longer chance of survival and improve their quality of life. Methods: The clinical and molecular findings, endocrinological features and metabolic status of 26 patients (16 with FD, and 10 with GD1) were evaluated. The results were compared to age- and gender-matched healthy individuals. Results: Patients with GD1 and FD were followed for 7.2 ± 4.7 and 6.4 ± 4.3 years, respectively. Calcium and magnesium levels in patients with GD1 were lower than in controls (p=0.01; p=0.002). Osteoporosis was detected in 20% (n=2) of GD1 patients and 12.5% (n=2) of FD patients. The HbA1c value of GD1 patients was significantly lower than both in control and Fabry patients (p=0.004; and p=0.007, respectively). There was a negative correlation between LysoGb3 and female gender (p=0.04; r=−0.49), but no correlation was found with any other biochemical parameters. There was a negative correlation between the LysoGb1 level and the neutrophil (p=0.03; r=−0.711) and thrombocyte levels (p=0.02; r=−0.767), and a positive correlation with ferritin levels (p<0.001; r=0.867). Conclusion: Long time effective ERT seems to have beneficial effects on metabolic and hormonal status as well as primary target organs in both FD and GD1 patients.