Endocrine Abstracts

Patients with craniopharyngioma (CP) are more often operated by transcranial route than patients with nonfunctioning pituitary adenoma (NFPA), have higher prevalence of pituitary deficiencies, are more obese and dyslipidemic and have a higher mortality rate. A previous study in a large group of GHD subjects, showed that the effects of 2-year rhGH replacement are similar in patients operated for CP and in patients operated for NFPA, except for less reduction in fat mass in CP p...

A highly polymorphic microsatellite in the IGF1 gene promoter, composed of variable cytosine-adenine (CA) repeats (n=10–24) has been linked to IGF1 serum concentrations in normal, acromegalic and GHD subjects with conflicting results. Aim of this study was to investigate whether this polymorphism may influence the clinical and biochemical characteristics of adult patients with GHD (n=97). Moreover, the response to 12-month rhGH replacement in terms of IGF1 l...

Background: GH deficiency (GHD) may occur in about 60% of acromegalics treated and cured by surgery or radiotherapy. Effects of GH replacement have not yet been extensively studied in such a patients.Aim: To investigate whether rhGH replacement improve metabolic parameters in acromegalic patients who become GHD.Patients and methods: Forty GHD patients (mean age (S.D.): 48±10, BMI 27±3 kg/m2) were...

Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of rare metabolic disorders characterized by hypocalcemia and hyperphosphatemia due to PTH resistance. Heterozygous loss of function mutations in the gene encoding the alpha-subunit of Gs (GNAS) inherited from the mother lead to PHP type Ia. PHP type Ia (PHP-Ia) is a disease in which the physical features (short stature, obesity, round face, brachydactyly and subcutaneous ossifications) that constitute Albri...

PKA regulatory subunit 2B (R2B) is the most expressed in mouse adipose tissue, where it plays an important role in regulating energy balance. We previously demonstrated that R2B is the most abundant R subunit in human adult subcutaneous and visceral adipose tissues. We further showed that R2B expression and PKA activation are reduced in adipose tissues from obese as compared to non-obese subjects. Normal adipose tissue development and increases in fat mass associated with obes...

Androgens, by signaling through the androgen receptor (AR), mediate a wide range of male developmental processes. Complete androgen insensitivity syndrome (CAIS), a X-linked disorder caused by AR gene mutations, represents an in vivo model to study the role of androgens in sexual development. Here, we reported a case with CAIS at 20 weeks of gestational age harbouring a novel AR missense mutation (D767V), which was predicted to prevent androgen binding and...

The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1–13 and methylation defects in the imprinted GNAS cluster, respectively. PHP-Ia patients show Albright hereditary osteodystrophy (AHO) and resistance toward PTH and additional hormones, while PHP-Ib patients do not have AHO and hormone resistance is limited to PTH and TSH. Recently, methylation defects have been detected in 5 patients with PHP-Ia, indicating a m...

Primary hyperparathyroidism (PHPT) is associated with increased risk of kidney stones. Hypercalciuria and urine oxalate excretion are considered risk factors for urolithiasis in PHPT stone-formers. Recently, the anion-exchanger SLC26A6 has been involved in the oxalate metabolism. Slc26a6-null mice showed hyperoxalemia, hyperoxaluria resulting in dramatic calcium oxalate urolithiasis. We tested the hypothesis that urine oxalate excretion in PHPT patients might be modulat...

A peculiar characteristic of parathyroid tissue is the ability to spontaneously induce angiogenesis, to proliferate and to secrete PTH when autotransplanted in patients undergoing total parathyroidectomy. Since stem/progenitor cells have been involved in the process of tissue regeneration, we searched for putative parathyroid progenitors from human normal and tumoral parathyroids. By immunohistochemistry, FACS analysis and cell culture we identified parathyroid cells positive ...

GH-secreting and non-functioning pituitary tumors are clinically distinct, usually benign but potentially locally aggressive lesions originating from the replication of a single mutated pituitary cell. As for the underlying genetic and epigenetic alterations, also the patterns of activation of specific signaling pathways as well as the prognostic molecular factors leading to local invasiveness are, to date, largely unknown. In this study, we used two-dimensional electrophoresi...