Endocrine Abstracts

CHH is a rare disease with a relevant genetic background, and is characterized by a failure to enter (complete forms) or to complete (partial forms) pubertal development. It requires a treatment to allow the completion of puberty, and in male this goal can be achieved either using testosterone replacement therapy or administering gonadotropins (Gn); the latter allows both testicular development and the endogenous testosterone production. There are few studies evaluating the th...

Thyroid cancer (TC) is the most common endocrine tumor and its incidence has increased faster than in any other malignancy. Although TCs are usually well differentiated, disease recurrence or persistence is high, because of local and distant metastasis and therapeutic resistance. Among the different genetic alterations, BRAFV600E is the most frequent one. Several studies tried to establish a correlation between BRAFV600E and patients outcome, with controversial results. Nevert...

Priming with sex steroids prior to stimulation tests for the diagnosis of GH deficiency (GHD) in peripubertal years remains controversial, though some evidence suggests its utility in improving the specificity of GH testing for the distinction between idiopathic GHD (IGHD) and constitutional delay of growth and puberty (CDGP). However, few data are available on the final height (FH) of untreated CDGP patients. In order to better understand the usefulness of priming, we analyze...

Loss-of-function mutations in the TSH receptor (TSHR) gene are one of the most common known causes of congenital hypothyroidism (CH). While heterozygous mutations result in nonautoimmune isolated hyperthyrotropinemia, homozygous and compound heterozygous mutations may cause overt CH of various severity depending on the localization and type of the mutations.In our study we performed the systematic genetic analysis of the TSHR gene of a cohort of 85 Hunga...

Introduction: Epidemiological data indicate that children born prematurely have a risk 3–5 fold higher of congenital hypothyroidism (CH). In addition premature infants born small for gestational age (SGA) have a risk of 12% higher to develop IC compared to prematures with appropriate development (AGA). The mechanisms that justify the increased risk of IC are still unknown. Some studies report a pattern of aberrant methylation associated with prematurity, intrauterine feta...

BMP15 is a TGFβ-like oocyte-derived growth factor involved in ovarian folliculogenesis as a critical regulator of many granulosa cell processes. BMP15 is synthesized as a pro-protein which dimerizes and then is processed in the bioactive mature domain and a large prodomain. The proregion has an important role in the BMP15 processing by driving the dimerization and secretion of the active mature dimers. Since several mutations in the BMP15 gene have been found with differe...

Primary ovarian insufficiency (POI) is a critical fertility defect characterized by a progressive and silent impairment of the follicular reserve. POI aetiology is heterogeneous and largely unknown, but a maternal inheritance often characterizes idiopathic forms. Therefore, we hypothesized a possible involvement of a mitochondrial defect in the pathogenesis of this disease since mitochondrial biogenesis and bioenergetics play an essential role in ovarian folliculogenesis. Our ...

Introduction: Idiopathic central hypogonadism (ICH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. ICH could be associated or not with hypo-anosmia respectively identifying the Kallmann’s syndrome (KS) or the normosmic ICH (nICH). Even though 14 disease genes have been identified, in 70% of patients no genetic cause could be identified, suggesting additional regulatory genes and still unknown mechanisms. Thus, with the aim to identify new ...

Thyroid cancer is the most common endocrine malignancy characterized by a good prognosis. However, the subgroup of poorly differentiated thyroid carcinomas (PDTCs) includes neoplasia highly aggressive and scarcely responsive to currently available therapies.Site-selective cAMP analogs are able to inhibit the growth of poorly differentiated solid tumors and may represent valuable candidates for the therapy of PDTCs.We evaluated the ...

Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor highly resistant to chemo-and radiotherapy. Since several reports showed that cAMP has an antiproliferative effect on different types of solid tumors both in vitro and in vivo, we evaluated the potential anti-neoplastic activity of cAMP analogues (8-Cl-cAMP and the equimolar combination of 8-PIP-cAMP and 8-HA-cAMP) in two MTC cell lines (TT and MZ-CRC-1 that harbor C634W and M918T RET mutations, respecti...