Aryl hydrocarbon receptor interacting protein and syndromic gene variants detected in Turkish isolated pituitary adenoma families by whole exome sequencing.

Genetic causes of familial isolated pituitary adenomas (FIPAs) remain mostly elusive. A cohort of 20 FIPA cases from 12 different geographical regions of Türkiye was included to characterize clinical and genetic features. Whole exome sequencing (WES) was performed on genomic DNA of index cases, followed by confirmation through Sanger sequencing utilizing indexes and their relatives to interpret disease associated variants.

Radiologist- and Surgeon-Performed Ultrasound (RSUS) Facilitates Minimally İnvasive Parathyroidectomy (MIP): Optimal Biochemical Parameters and Patient Outcomes.

The high success rate of minimally invasive parathyroidectomy (MIP) is dependent upon the correct preoperative localization of the solitary parathyroid adenoma (SPA). Various studies have focused on comparisons of radiologist-performed ultrasound (RUS) and surgeon-performed ultrasound (SUS) to increase the sensitivity rate of US. However, the efficiency of radiologist- and surgeon-performed ultrasound (RSUS) before MIP has not frequently been reported.

Evaluation and follow-up of patients diagnosed with hypophysitis: a cohort study.

Objective: Primary hypophysitis might be challenging to diagnose, and there is a lack of evidence regarding optimal treatment strategies due to rarity of the disease. We aim to investigate the clinical features and compare the outcomes of different management strategies of primary hypophysitis in a large group of patients recruited on a nationwide basis.

Design: A retrospective observational study.

Subacute THYROiditis Related to SARS-CoV-2 VAccine and Covid-19 (THYROVAC Study): A Multicenter Nationwide Study.

Context: The aims of the study are to compare characteristics of subacute thyroiditis (SAT) related to different etiologies, and to identify predictors of recurrence of SAT and incident hypothyroidism.

Methods: This nationwide, multicenter, retrospective cohort study included 53 endocrinology centers in Turkey. The study participants were divided into either COVID-19-related SAT (Cov-SAT), SARS-CoV-2 vaccine-related SAT (Vac-SAT), or control SAT (Cont-SAT) groups.

Low Bone Density and High Sclerostin in Non-Functioning Pituitary Adenoma.

Purpose: Sclerostin reduces bone formation by inhibiting the Wnt signaling pathway in bone tissue. This study evaluated the serum sclerostin level in non-functioning pituitary adenoma (NFPA) patients and analyzed its relationship with bone metabolism.

Method: The data of the patients who applied to the Dicle University Endocrinology, diagnosed with non-functioning pituitary adenoma, and the control group consisting of healthy individuals were included in the study.

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.

Aim: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up.

Methods: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months.

Does oxidative status affect serum sclerostin levels in patients with type 2 diabetes mellitus?

Introduction: Sclerostin is a glycoprotein known as a negative regulator of bone formation, predominantly expressed by mature  osteocytes. There is no causative evidence information on the role of sclerostin in the pathogenesis of type 2 diabetes mellitus (T2DM) in humans.

Aim: This study aimed to investigate the relationship between serum sclerostin levels and oxidative status and biochemical parameters in T2DM patients and healthy people.

A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review.

Context: Homozygous leptin (LEP) and leptin receptor (LEPR) variants lead to childhood-onset obesity.

Objective: To present new cases with LEP and LEPR deficiency, report the long-term follow-up of previously described patients, and to define, based on all reported cases in literature, genotype-phenotype relationships.

Methods: Our cohort included 18 patients (LEP = 11, LEPR = 7), 8 of whom had been previously reported.

Quantitative Evaluation of Pupil Responses in Patients with Prolactinomas Being Treated with Dopamine Agonists.

The aim of this study was to determine whether the dopamine agonist (DA) drug cabergoline used in the treatment of prolactinoma causes autonomic dysfunction by measuring static and dynamic pupillary responses. The study included 25 eyes from 25 patients who were receiving DA for the treatment of prolactinoma and 25 eyes from 25 healthy individuals. Static and dynamic pupillary responses were measured by automatic quantitative pupillometry.

The Importance of DHEA-S Levels in Cushing's Syndrome; Is There a Cut-off Value in the Differential Diagnosis?

The purpose of this study was to determine possible cut-off levels of basal DHEA-S percentile rank in the differential diagnosis of patients with Cushing's syndrome (CS) with ACTH levels in the gray zone and normal DHEA-S levels. In this retrospective study including 623 pathologically confirmed CS, the DHEA-S percentile rank was calculated in 389 patients with DHEA-S levels within reference interval. The patients were classified as group 1 (n=265 Cushing's disease; CD), group 2 (n=104 adrenal CS) and group 3 (n=20 ectopic ACTH syndrome).

Clinical predictors of incipient vertebral fractures and bone mineral density in kidney transplant patients.

Purpose: Kidney transplant recipients are prone to metabolic bone diseases and consequent fractures. This study aimed to evaluate the incidence of incipient vertebral fractures, osteopenia, osteoporosis, and the clinical factors associated with incipient vertebral fractures in a group of kidney transplant patients.

Methods: Two hundred sixty-four patients (F/M 124/140, 45.

Evaluation of Peripapillary Microcirculation in Patients with Acromegaly.

Objectives: The aim of this study was to evaluate the radial peripapillary capillary (RPC) and the optic nerve head (ONH) perfusion of patients with acromegaly using optical coherence tomography angiography (OCTA).

Methods: Twenty-four eyes of 24 acromegaly patients comprised the study group and 24 eyes of 24 healthy individuals were used as a control group. The ONH and RPC vascular density (VD) was measured for each patient using OCTA.

Biochemical characteristics and calcium and PTH levels of patients with high normal and elevated serum 25(OH)D levels in Turkey: DeVIT-TOX survey.

Unlabelled: Vitamin D intake over the recommended dose is usually associated with high serum 25(OH)D levels and generally not associated with symptoms of hypercalcemia. High doses of cholecalciferol need to be avoided to protect against vitamin D toxicity and related complications. Strict adherence to the clinical guidelines for treating vitamin D deficiency can ensure safe and effective treatment.

Identifying Clinical Characteristics of Hypoparathyroidism in Turkey: HIPOPARATURK-NET Study.

Hypoparathyroidism is an orphan disease with ill-defined epidemiology that is subject to geographic variability. We conducted this study to assess the demographics, etiologic distribution, treatment patterns and complication frequency of patients with chronic hypoparathyroidism in Turkey. This is a retrospective, cross-sectional database study, with collaboration of 30 endocrinology centers located in 20 cities across seven geographical regions of Turkey.

Evaluation of Ocular Hypoperfusion in Patients with Acromegaly by Using Optical Coherence Tomography Angiography.

Purpose: This study aimed to evaluate the retinal blood vessel parameters and the foveal avascular zone (FAZ) area using optical coherence tomography angiography (OCTA) in patients with acromegaly in comparison with healthy controls.

Methods: A total of 45 patients with acromegaly and 45 healthy controls were included in this study. In all patients, the vessel density (VD) of the deep and superficial macular vascular networks and the foveal avascular zone (FAZ) were measured using OCTA.

The effectiveness of automatic pupillometry as a screening method to detect diabetic autonomic neuropathy.

Purpose: This study aimed to compare static and dynamic pupil responses of diabetic patients with and without nonproliferative diabetic retinopathy (DR) and normal healthy individuals under different lighting conditions via quantitative automated pupillometry.

Methods: Forty patients with DM with nonproliferative DR (group 1), 40 patients with DM without DR (group 2), and 40 healthy controls (group 3) underwent a complete ophthalmologic examination. Static pupillometry [scotopic pupil diameter (PD), mesopic PD, low photopic PD, and high photopic PD] and dynamic pupillometry (resting PD, contraction amplitude, latency, duration, velocity of contraction, dilatation latency, and duration and velocity at rest) were measured via automatic quantitative pupillometry.

Mental status and physical activity in patients with homozygous familial hypercholesterolemia: A subgroup analysis of a nationwide survey (A-HIT1 registry).

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening disease due to high serum low-density lipoprotein (LDL) cholesterol levels. LDL cholesterol-lowering interventions are fundamental for patients with HoFH.

Objective: It was aimed to investigate the association between the mental status of patients with HoFH and healthy lifestyle behaviors.

Increased Serum Sclerostin Levels in Patients With Active Acromegaly.

Context: Bone mineral density is normal in acromegalic patients and the cause of increased fracture risk that characterizes active acromegaly is unknown.

Objective: This study compared serum sclerostin levels between patients with active acromegaly and healthy individuals.

Design, Setting, And Participants: The serum sclerostin levels of patients with active acromegaly were compared with those of healthy volunteers in a cross-sectional study.

Alternative treatment of resistant hypoparathyroidism by intermittent infusion of teriparatide using an insulin pump: A case report.

Hypoparathyroidism usually responds to oral active vitamin D and calcium, but, although rare, some patients do not respond to this treatment. A 47-year-old Caucasian female presented to our medical unit with classical oral treatment-resistant hypocalcemia after thyroidectomy. Teriparatide was infused through the insulin pump with dosage set to 1 unit which equals to 2.

Clinical management, psychosocial characteristics, and quality of life in patients with homozygous familial hypercholesterolemia undergoing LDL-apheresis in Turkey: Results of a nationwide survey (A-HIT1 registry).

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening inherited disease leading to early-onset atherosclerosis and associated morbidity. Because of its rarity, longitudinal data on the management of HoFH in the real world are lacking, particularly on the impact the condition has on quality of life (QoL), including the impact of the extracorporeal lipid removal procedure apheresis (LA).

Methods: The A-HIT1 study included 88 patients with HoFH aged ≥12 years receiving regular LA in 19 centers in Turkey.

Multiple endocrine neoplasia type 2A syndrome (MEN2A) and usefulness of 68Ga-DOTATATE PET/CT in this syndrome.

Aim: The aim of this study was to evaluate a new imaging method 68Ga-DOTATATE PET/CT as an alternative method to diagnose evidence of neuroendocrine tumors or their metastasis (if any) in patient with MEN 2A.

Methods: Three patients( 2F, 1M; age 28,46 and 50 years) with MEN 2A syndrome who underwent 68Ga-DOTATATE PET/CT scan were prospectively evaluated. PET/CT images were analyzed with measurement of maximum standardized uptake value (SUVmax).