Endocrine Abstracts

Hypothyroidism causes delayed ossification and growth retardation. T3 stimulates hypertrophic chondrocyte differentiation whereas unliganded T3 receptors (TRs) repress gene expression and maintain cell proliferation in the absence of hormone. During development the type 3 deiodinase enzyme (D3) inactivates thyroid hormones and prevents T3-access to the fetus. At birth diminishing D3 activity and increasing T3 availability triggers the onset of cell differentiation and correlat...

Background: Metastatic pheochromocytomas and paragangliomas are orphan neuroendocrine tumors. 50% of these tumors are associated with germline mutations of the SDHB gene. SDHB related pheochromocytomas and paragangliomas and many apparently sporadic tumors exhibit abnormal angiogenesis. This trial assessed the efficacy and safety of Cabozantinib, a potent, antiangiogenic, tyrosine kinase inhibitor. Methods: The Natalie trial is a single arm phase 2 clini...

Background: Metastatic pheochromocytomas and paragangliomas are rare neuroendocrine tumors with limited treatment options. We studied the efficacy and safety of off-label High-Specific-Activity I-131-meta-iodobenzylguanidine (HSA-I-131-MIBG) in routine clinical practice. Methods: This is a retrospective cohort study. The primary endpoint is objective response rate (ORR) as per RECIST v1.1. Secondary endpoints are blood pressure control, safety, overall a...

Purpose: The association between differentiated thyroid cancers and autoimmune thyroid diseases is well known. Therefore, we aimed to investigate the importance of thyroid peroxidase antibody (anti-TPO) and thyroglobulin antibody (Anti-Tg) in patients followed with the diagnosis of Hashimoto’s thyroiditis regarding the development of differentiated thyroid cancer.Methods: A total of 56 patients including 22 Hashimoto’s thyroiditis patients oper...

Our previous study showed that polycystic ovary syndrome (PCOS)-like reproductive and metabolic phenotypes induced by maternal dihydrotestosterone (DHT)-exposure, can be passed on in mice from mothers (F0) to daughters (F1), granddaughters (F2), and even to great-granddaughters (F3). The female transmission is independent of diet-induced obesity and is mediated by transcriptional and mitochondrial perturbations of oocytes accompany. ...

Introduction: Rathke Cleft Cysts(RCCs) are benign cysts arising from the remnants of Rathke’s pouch. The most common symptoms are visual field disorders, headache, and pituitary dysfunction. Case 1: A 26-year-old male was admitted with headache that started 4 days ago. Cranial MRI revealed an appearance mimicking a hemorrhagic adenoma in pituitary. Pituitary hormones were found as normally. Pituitary MRI showed a 12x10x10 mm hemorrhagic RCCs located...

Introduction: Rathke Cleft Cysts(RCCs) are benign cysts arising from the remnants of Rathke’s pouch. The most common symptoms are visual field disorders, headache, and pituitary dysfunction. Case 1: A 26-year-old male was admitted with headache that started 4 days ago. Cranial MRI revealed an appearance mimicking a hemorrhagic adenoma in pituitary. Pituitary hormones were found as normally. Pituitary MRI showed a 12 x 10 x 10 mm hemorrhagic RCCs loc...

Introduction: Primary thyroid lymphoma is a rare malignancy. In many series, it is reported that it is seen at a rate of 0.6-5% among thyroid cancers and approximately 2% among extranodal lymphomas. It is often seen as a painless mass in the neck. Almost all of them have underlying Hashimoto’s thyroiditis. In many instances, thyroid lymphoma was recognized after thyroid surgery for suspected carcinoma. The most common thyroid lymphomas are B-cell and Hodgkin lymphomas. Th...

Objective: Hereditary pituitary adenomas (PAs) are rare and occur either isolated or as part of a syndrome. Familial isolated pituitary adenoma (FIPA) is the presence of only PA in at least two members of a family, where “Aryl hydrocarbon receptor interacting protein-AIP” gene mutations have been identified in 10-20% of cases. However, the cause of tumorigenesis in the majority is unknown. We aimed to identify novel genetic variants in a cohort of FIPA patie...

Background: William-Beuren region duplication syndrome (WBDS) is a rare multisystem disease caused by the gain on chromosome 7q and transmitted autosomal dominant, with approximately a population frequency of 1 in 13,000-20,000. The age of diagnosis is variable, but generally, it is diagnosed during childhood. It include endocrine (growth hormone deficiency) and non-endocrine (facial dysmorphology, cardiovascular problems, gastrointestinal and genitourinary problems, neurologi...