Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study.

Background And Aims: Congenital adrenal hyperplasia (CAH) is a group of disorders that affect the production of steroids in the adrenal gland and are inherited in an autosomal recessive pattern. The clinical and biochemical manifestations of the disorder are diverse, ranging from varying degrees of anomalies of the external genitalia to life-threatening adrenal insufficiency. This multicenter study aimed to determine the demographics, biochemical, clinical, and genetic characteristics besides the current status of adult patients with CAH nationwide.

Assessment of osteoprotegerin and RANKL levels and several cardiovascular risk scoring systems in acromegaly.

Purpose: The OPG/RANKL (osteoprotegerin/receptor activator of nuclear factor kappa-B) system, which plays a crucial role in bone metabolism, is also associated with vascular calcification. Acromegaly is characterized by excessive secretion of growth hormone and insulin-like growth factor, and studies have demonstrated an elevated risk of cardiovascular disease in individuals with acromegaly. In this study, our objective was to investigate the relationship between OPG/RANKL and various cardiovascular risk scoring systems.

An evaluation of both serum Klotho/FGF-23 and apelin-13 for detection of diabetic nephropathy.

Purpose: The aim of our study is to evaluate whether serum Klotho/FGF-23 and apelin-13 can be used as new biomarkers for detection of development of nephropathy.

Methods: In this cross-sectional study, 88 type 2 diabetes mellitus (T2DM) patients and 38 healthy controls were included. The mean duration of T2DM was 11.

An acromegaly case treated with clomiphene citrate: add-on treatment in primary medical therapy.

Introduction: Acromegaly is a disease with various comorbidities and hypogonadism is a common comorbidity in patients with acromegaly. Herein, we aim to present our experience with clomiphene citrate in a patient with acromegaly accompanied by hypogonadism, who declined surgery.

Case Report: A 40-year-old male patient with impaired fasting glucose, hyperlipidemia, and psychosis and who complained of increasing tongue growth, snoring, enlargement of the hands, spacing between the teeth, and loss of libido for the last 6 years was followed up.

High chitotriosidase and AGE levels in acromegaly: a case-control study.

Purpose: Acromegaly is associated with oxidative stress and inflammation parameters. Chitotriosidase (CHITO) is a marker of macrophage activation and plays a pivotal role in the activation of inflammatory and immunological responses. Our study aimed to determine CHITO,YKL-40, advanced glycation end product (AGE), and high-sensitivity C-reactive protein (hsCRP) levels to investigate malondialdehyde (MDA), catalase, superoxide dismutase (SOD), and glutathione peroxidase (GSH-Px) activities and to evaluate any association of these parameters with carotid intima media thickness (cIMT) in patients with controlled acromegaly.

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).

Two challenging cases of pituicytoma.

Introduction: Pituicytoma is a rare tumor of the pituitary gland derived from neurohypophyseal pituicytes. CASE 1: A 58-year-old female presented with decreased vision; she was admitted to the neurosurgery department of Ege University after the detection of a pituitary macroadenoma. Magnetic resonance imaging (MRI) showed a 28 * 18 * 17-mm suprasellar mass, and laboratory tests revealed hypopituitarism.

Metreleptin replacement treatment improves quality of life and psychological well-being in congenital generalized lipodystrophy.

The near total lack of subcutaneous fat in congenital generalized lipodystrophy (CGL) leads to the accumulation of fat in ectopic organs and severe insulin resistance, which are associated with serious metabolic abnormalities. Cosmetic aspects of the disease are likely to affect the quality of life (QoL) and physiological well-being in these individuals. Metreleptin, recombinant human leptin, replacement treatment has been shown to have benefits in treating the metabolic abnormalities of CGL.

Relationship Between Serum Agouti-Related Peptide Levels and Metabolic Syndrome in Euthymic Bipolar Patients.

Introduction: Agouti-Related Peptide (AgRP) is expressed primarily in the hypothalamic arcuate nucleus, stimulates appetite and decreases metabolism and energy expenditure. The aim of our study is to evaluate the relationship between serum Agouti-Related Peptide (AgRP) levels and metabolic syndrome in euthymic bipolar patients.

Methods: Forty euthymic bipolar patients who used only mood stabilizer for at least three months and 40 healthy volunteers as control group were included in the study.

Cardiac phenotype in familial partial lipodystrophy.

Objectives: LMNA variants have been previously associated with cardiac abnormalities independent of lipodystrophy. We aimed to assess cardiac impact of familial partial lipodystrophy (FPLD) to understand the role of laminopathy in cardiac manifestations.

Study Design: Retrospective cohort study.

PSEUDOPSEUDOHYPOPARATHYROIDISM AS A CAUSE OF FAHR SYNDROME: HYPOPARATHYROIDISM NOT THE ONLY ONE.

Introduction: Fahr's syndrome is an infrequent disorder characterized by bilateral symmetrical calcification of basal ganglia and the cerebral cortex. It can be seen genetic, idiopathic, or secondary to endocrine diseases. This disease is related to different metabolic disorders particularly with diseases of the parathyroid gland.

Insulin secretion-sensitivity index-2 could be a novel marker in the identification of the role of pancreatic iron deposition on beta-cell function in thalassemia major.

The purpose of this study is to evaluate the impact of insulin secretion-sensitivity index-2 (ISSI-2) in the identification of the role of pancreatic iron deposition on beta-cell function in thalassemia major. Tissue iron stores were measured with magnetic resonance imaging (MRI) in the liver (R2), pancreas (R2*), and heart (T2*). ISSI-2 was assessed as a novel oral glucose tolerance test-based measure of beta-cell function.

The low levels of bone morphogenic protein-4 and its antagonist noggin in type 2 diabetes.

Objective: Bone morphogenic protein-4 (BMP-4) is a proinflammatory cytokine which is controlled by BMP-4 antagonists. Our aim was to investigate the levels of BMP-4 and its antagonists, noggin and matrix Gla protein (MGP), in prediabetes and diabetes.

Design: One hundred and forty-two type 2 diabetic, 32 prediabetic, and 58 control subjects participated in this cross-sectional study.

Acromegaly is associated with high fibroblast growth factor-21 levels.

Purpose: Fibroblast growth factor-21 (FGF-21) is a member of fibroblast growth factor family. Both growth hormone (GH) and FGF-21 take place in the regulation of glucose and lipid metabolism. We aimed to investigate FGF-21 levels in acromegaly which is characterized by excess GH levels and is associated with comorbidities and altered body composition.

A new type of familial partial lipodystrophy: distinctive fat distribution and proteinuria.

Purpose: To describe an interesting subtype of familial partial lipodystrophy (FPLD).

Methods: The phenotype of this distinctive FPLD subtype was studied in three Turkish female siblings.

Results: Mutation testing was negative for the genes associated with lipodystrophy syndromes.

Oncocytic Adreno Cortical Tumors: Pathological Features of 16 Cases and Review of the Literature.

Oncocytic neoplasms of the adrenal gland are extremely rare tumors. These tumors differ from their nononcocytic counterparts in some respects. The aim of this study was to review and discuss the clinical, histological, and immunohistochemical features of as well as the prognosis for these rare tumors.

AT-101 acts as anti-proliferative and hormone suppressive agent in mouse pituitary corticotroph tumor cells.

Purpose: Gossypol, a naturally occurring compound in cottonseeds, has anticancer effects against several tumor cell lines. It has been extensively studied in clinical trials and is well tolerated with a favorable safety profile. AT-101, a derivative of R (-)-gossypol, binds to Bcl-2 family proteins and induces apoptosis in vitro.

Testicular Adrenal Rest Tumor (TART) in congenital adrenal hyperplasia.

Congenital adrenal hyperplasia is one of the most common autosomal recessive genetic disorders. Testicular adrenal tumors are significant complications of congenital adrenal hyperplasia. We would like to present two patients of testicular adrenal rest tumors.

Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.

Objective: Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by partial lack of subcutaneous fat.

Methods: This multicenter prospective observational study included data from 56 subjects with FPLD (18 independent Turkish families). Thirty healthy controls were enrolled for comparison.