Endocrine Abstracts

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor arising from parafollicular C-cells. Nowadays different targeted therapies are available, directed mostly against the main genetic driver of MTC, RET, and against the common pro-oncogenic pathways of VEGF, EGFR and c-MYC. Despite this, an escape phenomenon has been observed with sudden disease progression during treatment, leaving surgery as the only curative treatment. The evaluation of pre and post treatment ge...

Objectives: Differentiated TCs are generally sensitive to first line treatments and tyrosine kinase inhibitors (TKIs). However, part of them along with undifferentiated TC, namely Anaplastic (ATC) and Poorly Differentiated (PDTC), are aggressive and show refractoriness to tyrosine-kinase inhibitors (TKIs) treatments. A correlation between resistance to TKIs and inactivating TP53 mutations was proven in TC by our group, consistent with data obtained in other tumors. To...

The precise development of the Gonadotropin Releasing Hormone (GnRH) neurons is essential for the proper function of the hypothalamic-pituitary-gonadal axis, as GnRH is the master regulator of reproductive functions in vertebrates. Mutations in genes involved in the development of GnRH neurons are associated with Congenital Hypogonadotropic Hypogonadism (CHH), a heterogeneous genetic disorder characterized by hypogonadism, lack of puberty onset, and infertility, which is named...

Background: Cytology is the gold standard method for the differential diagnosis of thyroid nodules, though 25−30% of them are classified as indeterminate and, in some cases, surgery is required for a definitive diagnosis. Aim: In order to reduce unnecessary thyroid surgeries, we set up a ‘thyroid risk score’ (TRS) to increase the diagnostic accuracy in a large series of patients with indeterminate cytology and to apply it to a validation ...

Congenital Hypothyroidism (CH) is the most common congenital endocrine disease and avoidable cause of severe mental retardation. The CH pathogenesis may include the contribution of genetic and environmental factors. However, causal mutations have been found in a minority of cases. Moreover, the elevated frequency of discordance for CH phenotype between monozygotic (MZ) twins suggests the involvement of non-Mendelian mechanisms. Aim of this study was to investigate the role of ...

Background: In patients affected with type 2 diabetes mellitus (T2DM) a high prevalence of hypogonadism has been reported, even if there is no consensus on its metabolic and cardiovascular implications, especially according to the type of hypogonadism. The aim of this observational study is to evaluate: (1) the prevalence of different types of hypogonadism in T2DM according to validated criteria from the EMAS study; (2) look for correlations of gonadal status with severity or ...

The Standards of Care version 8 (SOC 8) for transgender and gender diverse people suggest maintaining estradiol (E2) levels between 100-200 pg/ml in Assigned Male at Birth (AMAB) subjects who desire a complete feminization during gender affirmation hormone therapy (GAHT). However, data about estrogen dose therapy and corresponding serum concentrations are scarce, especially regarding gel formulations. Our aim was to retrospectively compare E2 serum levels in AMAB patients unde...

Introduction: ICH is a rare and heterogeneous condition due to defects of GnRH secretion or action. Recent data indicate that ICH, though characterized by a strong genetic component, is a disease of multifactorial origin. Indeed, digenic defects have been described as a possible pathogenic explanation for ICH.Subjects: We present two familial cases with particular clinical and genetic profiles, out of a cohort of 300 ICH patients.R...

Germline activating mutations of the RET proto-oncogene are associated with inherited medullary thyroid cancer (MTC) and can be also detected in about 10% of apparently sporadic MTC cases. In the present study, 4 novel RET mutations, located in the extracellular domain (A510V, E511K and C531R) and in the intracellular juxtamembrane region (L666N), all identified by the genetic screening on sporadic MTC cases, are firstly reported and functionally characterized. RET Plasmids ca...

Idiopathic central hypogonadism (ICH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. Depending on the association with a normal or defective sense of smell, ICH could be respectively identified as normosmic ICH (nICH) or Kallmann’s syndrome (KS). Recent experimental evidences indicate the involvement of the new PROK2/PROKR2 pathway in GnRH neuron maturation and function and mutations affecting these two genes have been described in some IC...