Endocrine Abstracts

Resistance to thyroid hormones (RHT) is a rare syndrome, with autosomic dominant transmission, due to mutations in thyroid hormones beta-receptor gene. Clinical presentation is variable for the same mutation. This hypothesis must be considered in presence of high levels of thyroid hormones and TSH not suppressed.The evaluation of a 15-year-old female patient, in 1990, harbouring a thyroid nodule, secondary amenorrhea and visual and auditory impairment sh...

The SMP30 (Senescence Marker Protein 30) is involved in the maintenance of intracellular Ca2+ homeostasis and in the regulation of various Ca2+- dependent proteins. A suppressive effect on cell proliferation, DNA synthesis and on the expression of oncogenes in rat hepatoma cells overexpressing SMP30 has been reported recently suggesting it may have a role in cancer progression. High levels of SMP30 expression have been found in liver and kidney of rats bu...

Introduction: Just-glomerular tumours (reninomas) are rare causes of secondary hypertension (HT). They typically present with difficult to manage-HT, hypokalemia, hyperreninemia and secondary hyperaldosteronism. They are usually small lesions (<1 cm) and are more common in adolescents or young adults. Despite being rare, they should be considered in the diagnostic approach of secondary HT, as it they are a potentially curable cause.Case report: Femal...

Introduction: The TNM classification of the American Joint Committee on Cancer (AJCC) and the Union for International Cancer Control (UICC) is the most widely used thyroid cancer staging system. The 8th edition was published in 2016 and introduced modifications to the N0 classification. Histological analysis is no longer necessary for patients to be classified as N0, as long as there is no evidence of lymph node (LN) metastasis in the preoperative imaging tests or clinical eva...

Introduction: Multiple endocrine neoplasia type 2A syndrome (MEN 2A) is caused by a germline mutation in the RET proto-oncogene and its phenotype includes medullary thyroid cancer, pheochromocytoma and primary hyperparathyroidism (PHPT). Parathyroid reimplantation in the sternocleidomastoid muscle or in the brachioradial muscle can be performed in case of intraoperative lesion of the parathyroid glands. In some cases, PHPT may occur due to the proliferation of autotransplanted...

Ipilimumab (an anti-CTLA-4 antibody) treatment has been associated with Immune Related Adverse Events (iRAEs) of the endocrine system. However the frequency of iRAEs in programmed cell death (PD-1) receptor agent use is incompletely characterised, though initial studies report an incidence of 0.5%. We present a case of Pembrolizumab-induced hypophysitis in a 47 yo. male with melanoma. Presenting in 2007 with an initial diagnosis of melanoma, with lymph node recurrence in 2013....

Introduction: Cushing’s disease (CD) and acromegaly, despite their different specific symptoms, often present psychopathology (mainly depression and anxiety) even after hormonal normalization. However, their psychopathological profiles may be different. The aim of this study was to analyse the psychopathological profile in successfully treated Acromegaly and CD, and to compare both diseases. Current hormonal evaluation and time since endocrine control will also be analyse...

Introduction: Cryptorchidism is the most common abnormality of male sexual development. Approximately 5% of cases of cryptorchidism are associated with vanishing testes syndrome. This rare condition occurs when an initially normal testicle that existed in fetal life subsequently atrophies. Affected patients usually have normal male external genitalia and hypergonadotropic hypogonadism. This disease is usually diagnosed in early childhood allowing for normal sexual development ...

Introduction: Pheochromocytomas/paragangliomas are rare neuroendocrine tumors. Although mostly sporadic, about 1/3 of the cases correspond to inherited autosomal dominant syndromes, often associated with germline mutations of the SDHD, SDHC and SDHB genes. The association with the SDHAF2(SDH5) gene has been recently discovered, with only few cases published worldwide, and it presents as a paraganglioma of the head and neck, without previous known description of other locations...

We report an 18-year-old boy referred to our outpatient clinic at 8 years and 11 months of age with a history of early-onset childhood hiperphagia, infantile central hipotonia and lethargy, mild mental retardation and emotional instability. His height was 125 cm, height SDS = -1 (target height = 169,5 cm, SDS = -0,78) and he weighted 40 Kg (BMI = 25,6;WFH =164%). He had small hands and feet, fat face with prominent forehead, bitemporal narrowing, triangular upper lip, microgna...