Search results for "Gonad"

Determinants of arterial stiffness in pre- and postmenopausal women

2013

Additive effect of factors related to assisted conception on the reduction of maternal serum pregnancy-associated plasma protein A concentrations and…

2013

Objective To analyze whether assisted conceptions need adjustments in first-trimester Down syndrome screening and why modifications in screening markers occur. Design Eleven-year cohort retrospective analysis. Setting Maternal-fetal medicine unit. Patient(s) Two thousand eleven naturally conceived normal singleton pregnancies and 2,042 normal singleton pregnancies achieved with assisted conception: 350 by IUI and 1,692 with IVF (n = 328) or intracytoplasmic sperm injection (ICSI; n=1,364), using nondonor (n = 1,086) or donated ova (n = 606), with fresh (n = 1,432) or frozen (n = 260) embryos. Intervention(s) Comparison of ultrasound and biochemical markers of first-trimester Down syndrome s…

Soluble ligands and their receptors in human embryo development and implantation.

2014

Extensive evidence suggests that soluble ligands and their receptors mediate human preimplantation embryo development and implantation. Progress in this complex area has been ongoing since the 1980s, with an ever-increasing list of candidates. This article specifically reviews evidence of soluble ligands and their receptors in the human preimplantation stage embryo and female reproductive tract. The focus will be on candidates produced by the human preimplantation embryo and those eliciting developmental responses in vitro, as well as endometrial factors related to implantation and receptivity. Pathways to clinical translation, including innovative diagnostics and other technologies, are al…

Hormonal adaptations and modelled responses in elite weightlifters during 6 weeks of training.

1992

The concentrations of serum testosterone, sex-hormone-binding-globulin (SHBG) and luteinizing hormone (LH) were examined throughout 1-year of training in six elite weightlifters. A systems model, providing an estimation of fatigue and fitness, was applied to records of training volume and performance levels in clean and jerk. The analysis focused on a 6-week training period during which blood samples were taken at 2-week intervals. A 4-week period of intensive training (period I) could be distinguished from the following 2-week period of reduced training (period II). During period I, decreases in serum testosterone (P less than 0.05) and increases in serum LH concentrations (P less than 0.0…

The use of long-acting forms of gonadotropin-releasing hormone analogs (GnRHa Depot) increase miscarriage rates in oocyte donation cycles.

2001

Gonadotropin-releasing hormone analogues for palliation of carcinoma of the prostate

1983

Since the introduction of contrasexual treatment as the basic concept of palliation of prostatic carcinoma in the 1940's, orchiectomy, estrogens, and, in recent years, antiandrogens have become generally accepted treatment forms. Three facts: 1) estrogen treatment being at best palliative and at worst dangerous; 2) surgical castration having psychological impacts, at least in the younger age group; and 3) both being probably ineffective from the beginning, have led us to investigate an alternative of minimal toxicity and possible reversibility in the initial treatment of advanced prostatic carcinoma. 12 patients with far advanced carcinoma of the prostate were treated with the gonadotropin …

Controlled Ovarian Stimulation Induces a Functional Genomic Delay of the Endometrium with Potential Clinical Implications

2008

Context: Controlled ovarian stimulation induces morphological, biochemical, and functional genomic modifications of the human endometrium during the window of implantation. Objective: Our objective was to compare the gene expression profile of the human endometrium in natural vs. controlled ovarian stimulation cycles throughout the early-mid secretory transition using microarray technology. Method: Microarray data from 49 endometrial biopsies obtained from LH+1 to LH+9 (n = 25) in natural cycles and from human chorionic gonadotropin (hCG) +1 to hCG+9 in controlled ovarian stimulation cycles (n = 24) were analyzed using different methods, such as clustering, profiling of biological processes…

FGFR2mutation in 46,XY sex reversal with craniosynostosis

2015

Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutatio…

Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal.

2004

Point mutations and deletions of SRY gene have been described in several cases of XY gonadal dysgenesis. To date, most of these mutations affect the HMG domain of SRY which plays a central role in DNA binding activity of SRY. We report on a non-mosaic XY sex-reversed newborn girl (completely female external genitalia). The direct sequencing of SRY showed a new nonsense mutation in a codon of SRY gene flanking the 3' end of the HMG domain: a thymine is replaced by a guanine at position +387 in codon 129, resulting in the replacement of the amino acid tyrosine (TAT) by a stop codon (TAG). The new mutation of this patient provides further evidence to support the functional importance of the pu…

Role of hypogonadism in development of bone alterations in thalassemic patients

2005

Although transfusions and chelation therapy have improved survival of patients afflicted with Thalassemia Major (TM), endocrine alterations are still common complications. Particularly, hypogonadism plays an important role in the aetiology of osteoporosis in these patients. It is clear that in most patients the gonadal failure is a consequence of a pituitary damage and that a hypogonadotropic hypogonadism occurs; nevertheless, also a gonadal damage because of iron deposition may be a further cause of hypogonadism. Prevalence of the pubertal failure ranges between 50 to 80% of the cases. In some studies ferritin levels have been correlated with hypogonadism, suggesting that improvement of ch…