Endocrine Abstracts

The hormone leptin is required for the energy balance regulation. However, leptin also controls many other biological functions. Among these actions, some authors suggest that leptin exhibits neurotrophic effects in early life and plays a key role in the development of neurocircuitries that regulate energy metabolism. However, the precise role of leptin during development is still unclear. Thus, our study had the objective to investigate the consequences of the absence of lept...

Background: Familial paraganglioma type 1 syndrome is a hereditary form of paraganglioma due to an autosomal dominant, paternally inherited, germinal mutation in the SDHD subunit. Intestinal pseudo-obstruction is a rare complication of secretory PGL. We present a case of a patient with a malignant PGL syndrome type 1 who developed intestinal pseudo-obstruction.Clinical case: The patient was a Dutch male, aged 39 years, carrier of a germinal mutation in e...

Paragangliomas (PGL) and pheochromocytomas (PHEO) are rare neuroendocrine tumors with an estimated prevalence of 1:6500 and 1:2500, respectively. Although most PGL/PHEO are benign, approximately 10% of PHEOs and 15-35% of PGLs have metastatic disease, which it is main cause of death, with 6 years of median survival. Objective: To characterize the metastatic PHEOs and PGLs from a single center. Methods: Retrospective analysis of clinical records of patients with metastatic PHEO...

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

Background: Gigantism is a rare condition with accelerated growth in childhood when the epiphyseal plates are not fused. Most cases are due to growth hormone (GH) secretion from a pituitary adenoma. Rarer causes of GH-related gigantism include somatotroph hyperplasia as part of McCune-Albright syndrome, Carney complex, X-linked acrogigantism or ectopic GHRH production.Case presentation: An 18-year-old male with c.249_252delGTCT;p.I85Sfs MEN1 mut...

Background: Pheochromocytoma and paragangliomas (PPGLs) are rare disorders with a rate of malignancy of 10–20%. The control of the hormonal symptoms caused by the catecholaminergic burden in the metastatic disease is a challenging task. Hypertension is the most recognized feature, but gastrointestinal manifestations can be hard to manage and life-threatening.Cases Presentation: We present three cases of metastatic PPGLs who developed intestinal pseu...

Introduction: Germline mutations in succinate dehydrogenase complex (SDHx) are a risk factor for developing Pheochromocytoma (Pheo) and/or Paragangliomas (PGL) (named together PPGL), being responsible for approximately 30% of cases. The precise genotype-phenotype correlations and best management strategies are still uncertain.Objective: To characterize the clinical features and genotype-phenotype associations in a group of SDHx-mutated PPGL patients....

Introduction: Parathyroid Carcinomas are rare malignant neoplasms, accounting for less than 1% of primary hyperparathyroidism cases. Apart from certain genetic mutations, no additional risk factors are known. Diagnosis is challenging in the absence of metastatic disease since no consensual histological criteria have so far been developed. These neoplasms typically present with severe hypercalcemia and markedly elevated serum PTH levels. Treatment is surgical and despite freque...

Patients with chronic hypoparathyroidism (HypoPT) treated with oral calcium and active vitamin D metabolites are at risk of renal complications, because of the lack of action of PTH at the renal tubule. In the present study we evaluated 90 patients (68 females and 22 males; age: 51.8±14.1 yrs) with chronic postoperative Hypo (PO-HypoPT) diagnosed since at least 3 years. All patients were treated with calcitriol and 35 (39%) with oral calcium two patients were also treated...