Endocrine Abstracts

Members of the TGF-β superfamily of ligands signal through a combination of Type I and Type II receptors. Type I and Type II receptors have been related to various human diseases including developmental malformation, cancers and endocrine disorders. However, little is known about the function of ALK7, a Type I receptor expressed in prenatal and adult CNS and various endocrine tissues. We have generated a mice lacking ALK7, which are viable and fertile but display metaboli...

Introduction: INSL3 and its receptor LGR8, are essential for the first phase of testicular descent. Homozygous loss of either of the two genes in mice leads to cryptorchidism. Even though mutations in both homologous human genes are not a common cause of cryptorchidism. To date, only one missense mutation at codon 222 (T222P) of the LGR8 gene has been proposed as causative mutation for cryptorchidism. This conclusion was based on both functional in vitro studies and the...

Prokineticins (PK1 and PK2) are peptides regulating multiple biological processes through two G-protein coupled receptors, PK-R1 and PK-R2. PK2/PKR2 signalling is critical for neurogenesis of olfactory bulb and GnRH migration. Mutant mice lacking PKR2 have abnormal development of olfactory bulb and reproductive system atrophy, suggesting that these genes may be novel candidate for Kallmann syndrome (KS) in humans. Recently, mutations in PK2 and PKR2 genes have been found in ne...

BMP15 is an oocyte-derived growth factor belonging to TGF-β superfamily involved in follicular development as a critical regulator of granulosa cell processes. BMP15 gene maps at Xp11.2 and is expressed throughout folliculogenesis. BMP15 is translated as a pre-proprotein consisting of signal peptide, pro-region and mature peptide. The pro-region has an important role in the processing driving the pro-protein dimerization and secretion of active mature dimers. We report th...

Background: Low testosterone levels in men occur with increasing age and are associated with increased morbidity, particularly metabolic syndrome, and mortality. As the prevalence of hypogonadal testosterone levels has not been assessed in the primary care setting in Europe, we aimed to investigate the prevalence of low testosterone levels in this setting, and the patient characteristics and comorbidities associated with it.Methods: We measured testoster...

In normal woman, placental GH secretion increases during gestation and induces an increase of IGF-1 concentrations. In acromegalic women, increased pituitary GH secretion seems autonomous and IGF-1 increases in late stage of pregnancy related to placental GH. In a cohort of 46 women (mean age 31.7±4.5 years), acromegaly was due to micro (n=7) and macro (n=39) adenomas. Before the beginning of 59 pregnancies, women have been treated by transphenoidal surgery ...

Background: Non-alcoholic fatty liver disease (NAFLD) is a very common liver disorder associated with insulin resistance and the metabolic syndrome. Insulin resistance is also a prominent feature even in lean women with the polycystic ovarian syndrome (PCOS). The objective of this study was to identify the presence of NAFLD in young lean women with PCOS.Methods: Fifteen women with PCOS and 10 controls participated in the study.Mean...

The regulation of insulin-like factor 3 (INSL3) secretion from Leydig cells is still incompletely clarified. In this study we measured INSL3 serum levels in transsexual men under estrogen (E) and antiandrogen therapy or after orchiectomy. The effects of gonadotropins on testicular secretion in vitro was also evaluated.Methods: Blood samples were obtained from 14 transsexual men under long-term E (n=5) or E plus cyproterone acetate (E+CPA, <...

Introduction: Several numerical chromosome abberations are known in men. Of those the karyotype XXY (Klinefelter syndrome KS) is the most common chromosomal disorder with a prevalence of about one in 500 live-born males. KS is associated with hypogonadism and is suspected to cause variable physical and cognitive abnormalities. As a supernumerary X chromosome is also associated with infertility, sound animal models for KS are difficult to obtain.Methods: ...