Endocrine Abstracts

Objective: The aim of this study was to determine the frequencies of vitamin D receptor (VDR) Bsm1, Fok1, ApaI, TaqI and estrogen receptor α (ESR1) PvuII and XbaI polymorphisms in Romanian patients and to investigate their involvement in postmenopausal osteoporosis.Methods: The study was carried out on 82 postmenopausal women, aged over 60, divided into two groups: group 1-postmenopausal women with osteoporosis (34 subjects), group 2-postmenopausal ...

Background: Idiopathic scoliosis is a pathological entity of unknown etiology, characterized by a three-dimensional deformity of the spine and a low bone mass. The exact mechanism of bone loss in idiopathic scoliosis is unknown yet. However is well known that RANKL is a potent stimulator of bone resorption by binding receptor activator of nuclear factor-kB (RANK) in the osteoclasts cell membrane. OPG is a decoy receptor for RANKL, which interferes with RANKL/RANK binding and i...

Objective: To explore if the polymorphisms of the estrogen receptor alpha gene, XbaI (IVS1-351 A/G) and PvuII (IVS1-397 T/C) are associated with age-dependent changes in hormone levels for a better understanding of the biological actions of estrogens.Subjects and methods: Subjects, both genders aged between 20 and 80 years were classified into two groups: reproductive age (1) and over 55 years (2). The study received the Ethical Committee approval. Morni...

Objective: The aim of this study is the characterizing of genetic variation in PvuII and XbaI polymorphisms of the ESR1 gene associated with age-dependent endocrine, metabolic and cognitive changes in a representative sample of Romanian population stratified by age and sex.Subjects and methods: Subjects, both genders aged between 20 and 80 yr were assigned to three lots 1) 177 subjects aged 55–80 years with moderately cognitive impairment (MCI) (MMS...

Thyroid carcinoma is the most common endocrine malignancy and represents ~1% of all types of human cancer.Objective: As the molecular pathogenesis of thyroid cancer still remains to be clarified, the goal of our study was to find new molecular markers that could improve the diagnostics, follow-up protocols, treatment outcome, prognosis and the quality of life of differentiated thyroid cancer patients.Subjects and methods: Matched t...

Objective: The analysis of the copy number variation of CYP21A2 gene in a cohort of 21-hydroxylase deficiency (21-OHD) pediatric patients in a tertiary referral center from Romania.Methods: A total of 24 patients (21 female and 3 male, 7:1 female to male sex ratio) with previously biochemically and clinically diagnosed 21-OHD were enrolled in this study from October 2020 to October 2021. The age at the diagnosis was 4.6±4.8 years (mean&#177...

Objective: We previously found an association between eNOS(G894T) polymorphism and components of metabolic syndrome (MetS); thus, we investigated the metabolic–endocrine changes in postmenopausal women with incipient MetS and the interaction with the polymorphisms of eNOS-G894T, p22phox-930 A/G, CETP TaqIB and ESR1 (PvuII and XbaI) genes.Methods: postmenopausal women aged between 60 and 80 years from a population-based study were classified into the...

We present a rare association of ovarian carcinoid and virilization. A 65-year-old woman presented with a 9 years history of obesity, hypertension, dyslipidemia, stable angina, evaluated ambulatory for a postmenopausal virilization syndrome and flushes, with high testosterone and 17-hydroxyprogesterone (17OHP) levels without suppression during the 2×2 mg DXM test, normal gynecological evaluations with no tumor formation involving uterus, ovaries and adrenals at the pelvic...