Endocrine Abstracts

: Dicentric Y chromosome [idic(Y)] is the most common structural abnormality of this chromosome, and generally results from altered meiotic breakage and reunion of sister chromatids. Since this rearrangement is unstable, idic(Y) may be lost in subsequent cell cycles, resulting in a mosaic 45,X cell line. Variable are the phenotype and gonads (from streak gonads to ovotestes or dysgenetic testes). Few cases of 45,X/46,X,idic(Y) male pseudohermaphroditism with testes have been r...

Purpose: Diabetic Foot Ulceration (DFU) is common problem throughout the world and resulting in major economic consequences for the patients and country. We aim to describe estimated cost of illness between patients with DFU in southern Turkey.Methods: A total of 148 (F = 55, M = 93) patients with DFU were included in this retrospective study. We also included more than one admission of the patients with DFU. Patients characteri...

Background: Multifocal tuberculosis is defined as the involvement of at least two extra-pulmonary sites, with or without pulmonary involvement. The most commonly involved endocrine organ is the adrenal gland. We report a case of adrenal insufficiency revealing multifocal tuberculosis.Case report: A 65 year old female patient with no context of immunosuppression, presented to emergency department with Consciousness disturbance associated with severe hypon...

Introduction: Psychogenic polydipsia occurs in both psychiatric and somatic contexts. Clinically, it presents with a wide range of symptoms, both neurological and psychiatric, and can evolve into acute somatic complications, of which water intoxication is the most severe, with a high mortality rate.Case report: A 35 years-old male patient, treated for mental retardation since the age of 9 following a tonsillectomy, the post-op effects of which were marke...

Introduction: Thyroid-gastric autoimmune syndrome (TGS), described in the 1960s, is the autoimmune association of thyroid disease (Hashimoto’s or Graves’ disease) and gastric mucosal disease (Biermer’s disease) in the same patient. Although this association is part of the autoimmune polyendocrinopathies, its prevalence is largely underestimated in the literature. We report the case of a 56-year-old female patient with TGS.Observation: Pati...

Cushing’s syndrome (CS) in humans shares many similarities with its counterpart in dogs in terms of etiology (pituitary versus adrenal causes), clinical signs, and pathophysiologic sequelae. ATR-101 is a novel small molecule therapeutic currently in clinical development for the treatment of congenital adrenal hyperplasia and adrenocortical carcinoma in humans. ATR-101 is an adrenal-selective inhibitor of ACAT1 (acyl coenzyme A:cholesterol acyltransferase 1). ACAT1 catalyz...

The Pro12Ala and His447His polymorphisms of PPAR-γ, and Gly972Arg polymorphism of IRS-1 have been implicated in insulin resistance (IR) and adiposity. In this study, we investigated the possible influence of these polymorphisms on metabolic features of 53 PCOS women compared with 26 healthy women (controls). All women underwent a clinical, anthropometric and biochemical evaluation, including a 75-g oral glucose tolerance test; insulin secretion and sensitivity indices wer...

Alternative splicing is a crucial mechanism of gene regulation and this process can be dysregulated in cancer. In pituitary tumors (PitNETs), alteration in the serine/arginine-rich splicing factors (SRSFs) has been reported. Newly synthetized SRSFs are phosphorylated by serine-arginine protein kinase 1 (SRPK1) to facilitate their nuclear import. In response to extracellular stimuli SRPK1 may translocate to the nucleus as well to hyperphosphorylate SRSFs and favor their interac...

Non-functioning pituitary neuroendocrine tumors (NF-PitNETs) are still orphan of medical therapy. The drmgs approved for the other types of PitNETs, e.g. somatostatin analogues (SSA) with high affinity for somatostatin receptors (SSTs) type 2 (SST2) and 5 (SST5) are poorly efficacious in NF-PitNETs. Among SSTs, NF-PitNETs express high levels of SST3, a receptor that can mediate antiproliferative and apoptotic signaling. ITF2984 is a pan-SST ligand with high affinity for SST3, ...