Endocrine Abstracts

Pericentromeric inversion of the heterochromatic region of chromosome 9 has been reported in almost 4% of the cases of male infertility.Objective: Determining the karyotype from an infertile couple scheduled to perform IVF.Materials and methods: Slides with metaphasic chromosomes were GTG-banded according to standard protocol for cytogenetic analysis (karyotype). FISH analysis – inverted DAPI (4′-6-diamidino-2-phenylindo...

Introduction: Follicle-stimulating hormone (FSH) and its corresponding receptor (FSHR) are essential factors for regular gonadal development, sexual maturation at puberty and gamete production during the fertile period in both sexes. The FSHR encoding gene was mapped to the short arm of chromosome (CR) 2 in 2p16.3.3 In females, inactivating mutations result clinically – depending on the degree of inactivation – in primary amenorrhea, sec...

Introduction: Follicle-stimulating hormone (FSH) and its corresponding receptor (FSHR) are essential factors for regular gonadal development, sexual maturation at puberty and gamete production during the fertile period in both sexes. The FSHR encoding gene was mapped to the short arm of chromosome (CR) 2 in 2p16.3.3 In females, inactivating mutations result clinically – depending on the degree of inactivation – in primary amenorrhea, sec...

Background: Surgery is the standard treatment in patients with medullary thyroid carcinoma (MTC), 43% being biochemically cured postoperative in a large series, the most important prognostic factor being the stage of the disease.Material and methods: We present 3 cases of biochemical cured patients after surgery with different preoperative presentation. Calcitonin and carcinoembryonic antigen (CEA) were measured by chemiluminescence. Histological examina...

Turner Syndrome (TS) is defined as the combination of characteristic physical features in phenotypic females and complete or partial absence of the second sex chromosome. Short stature is a constant clinical finding in patients with TS. We report the case of a 18 year old female with TS and normal stature. Primary amenorrhea was the reason for the first clinical presentation. Laboratory evaluation showed hypergonadotropic hypogonadism, low oestrogens and testosterone. A pelvic...

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...

Background: ER-α gene (ESR1) polymorphisms have been associated with a variety of disorders including human infertility. In this study, we examined two polymorphisms of the estrogen receptor α (ESR1) gene, IVS-1 −397 T/C (dbSNP: rs2234693) and IVS-1 −351 A/G (dbSNP: rs9340799) in a sample of healthy women of reproductive age to determine whether are associated with hormonal levels for a better understanding of its biological actions in human development, ...

Adolescent idiopathic scoliosis (IS) represents an evolutive disease that occurs in puberty and progresses till the skeletal maturation. The neuroendocrine hypothesis involving a melatonin deficiency as the source for IS is one of the proposed causes of this plurifactorial disease.Objective: To investigate the hormonal changes of both the gonadal and growth axis and circadian rhythmicity in subjects with adolescent idiopathic scoliosis compared to age ma...

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...