Endocrine Abstracts

The cAMP signaling pathway plays an important role in cell proliferation and differentiation, and can be altered at multiple levels in endocrine tumors. Its central component is the protein kinase A (PKA). Inactivating mutations of PRKAR1A are observed in CNC (a dominant autosomal hereditary disease responsible for primary pigmented nodular adrenocortical disease, cardiac myxoma and lentiginosis). Most PRKAR1A mutations lead to mRNA unstability and protein degrad...

Objective: To evaluate reduced fertility rates and their possible causes in a cohort of well controlled male adult patients with congenital adrenal hyperplasia.Methods: We clinically assessed 22 male patients with congenital adrenal hyperplasia (15 salt wasting form, 7 simple virilising, age 18–49) according to their hormonal control. Further, we performed testicular ultrasound, MRI of the testis and a sperm count of each. As laboratory markers 17-O...

Bone morphogenic proteins (BMPs) have been demonstrated to impact tumorigenesis in a variety of tumors. As for the adrenal cortex, BMP6 has been implicated as an important modulator of aldosterone secretion. To screen for alterations of BMP dependent pathways in adrenal tumorigenesis we performed gene profiling experiments. By comparing human adrenal carcinoma (ACC) against normal adrenal glands (Co) we detected a down-regulation of various BMPs (e.g. BMP2, BMP5) which was fur...

Subject: Inhibitors of CYP11B enzymes, particularly of aldosterone synthase, are currently under development as adrenostatic agents in heart failure or hyperaldosteronism, and for use in adrenal imaging. As CYP11B1 and CYP11B2 show high homology, analysis of specific binding to the respective human enzymes is of key importance.Methods: Y1 cell lines stably expressing hsCYP11B1 or hsCYP11B2 were established. Primary cultures of porcine and human adrenocor...

Recent guidelines recommend to use the 1-mg DST to screen for subclinical hypercortisolism assuming that a post-DST cortisol >5.0 μg/dl define this condition. However, several experts suggest a more sensitive cut-off at 1.8 μg/dl while others consider mandatory to confirm unsuppressibility with a 8-mg DST. A consecutive series of 64 patients (22 men, 42 women, aged 28–81 years) with clinically inapparent adrenal adenoma were studied between 2005 and 2007. Th...

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 ...

Neonatal severe hyperparathyroidism (NSHPTH) and FHH, usually defined as a ratio of calcium clearance/creatinin clearance <0.01 with normal kidney function and vitamin D status, are caused by respectively heterozygote and homozygote inactivating mutations of the CaSR gene. The aim of this study was to assess the interest of analyzing CaSR in hypercalcalcemic subjects suspected to have FHH.Patients and methods: Forty hypercalcaemic subjects fro...

Background: Hypocalcemia is one of the most frequent complications after thyroid surgery. The aim of this study was to investigate the clinical relevance, outcome, follow-up and management of patients with incidental parathyroidectomy during thyroid surgery.Subjects and methods: Two hundred and thirty-one patients (5.2%, 200 females and 31 males) of 4206 operated patients, which presented between 1989 and 2007 in our out-patient endocrine department, suf...

Background: TPTD treatment has been shown to reduce vertebral and non-vertebral fracture risk in postmenopausal osteoporosis efficiently. However, gains in bone mass achieved by this treatment are almost lost 2 years after cessation of treatment, unless consecutively followed by an antiresorptive treatment such as alendronate.Subjects and methods: In the present prospective randomised open-labelled study in 52 pmp women, we investigated the effect of eit...