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See detailA novel mutation of the luteinizing hormone/choionic gonadotrophin receptor gene leading to Leydig cell hypoplasia type I
Potorac, Iulia ULg; Rivero-Müller, A; Pintiaux, Axelle ULg et al

in Symposium "Perspectives in Endocrinology" - 5ème édition (2015, February 07)

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See detailA novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1.
Rivero-Muller, Adolfo; Potorac, Iulia ULg; Pintiaux, Axelle ULg et al

in European journal of endocrinology / European Federation of Endocrine Societies (2015), 172(6), 27-36

OBJECTIVE: The LH/chorionic gonadotrophin receptor (LHCGR) is a G protein-coupled receptor (GPCR) that plays a central role in male sexual differentiation, regulation of ovarian follicular maturation ... [more ▼]

OBJECTIVE: The LH/chorionic gonadotrophin receptor (LHCGR) is a G protein-coupled receptor (GPCR) that plays a central role in male sexual differentiation, regulation of ovarian follicular maturation, ovulation and maintenance of corpus luteum and pregnancy, as well as maintenance of testicular testosterone production. Mutations in the LHCGR gene are very rare. The aim of this work was to study the clinical and molecular characteristics of a rare familial LHCGR mutation. METHODS: Five affected members of a family, including a phenotypically female, but genotypically male (46,XY), patient with Leydig cell hypoplasia type 1 and four genotypically female siblings with reproductive abnormalities, were studied genetically. Cell trafficking studies as well as signalling studies of mutated receptor were performed. RESULTS: The five affected patients were all homozygous for a novel mutation in the LHCGR gene, a deletion of guanine in position 1850 (1850delG). This resulted in a frameshift affecting most of the C-terminal intracellular domain. In vitro studies demonstrated that the 1850delG receptor was completely incapable of transit to the cell membrane, becoming trapped within the endoplasmic reticulum. This could not be rescued by small-molecule agonist treatment or stimulated intracellularly by co-expression of a yoked human chorionic gonadotrophin. CONCLUSIONS: This novel LHCGR mutation leads to complete inactivation of the LHCGR receptor due to trafficking and signalling abnormalities, which improves our understanding of the impact of the affected structural domain on receptor trafficking and function. [less ▲]

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See detailEndocrine disruption: it starts in the brain.
Parent, Anne-Simone ULg

Conference (2015)

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See detailChanges in pubertal timing: Past views, Recast issues
Bourguignon, Jean-Pierre ULg; Domine, Françoise; Glowacz, Fabienne ULg et al

in Bourguignon, Jean-Pierre; Carel, Jean-Claude; Christen, Yves (Eds.) Brain Crosstalk in Puberty in Adolescence (2015)

Abstract The aim of this article is to review some common opinions on changes in pubertal timing and shed new light both on the indicators used in assessing pubertal timing and the underlying mechanisms ... [more ▼]

Abstract The aim of this article is to review some common opinions on changes in pubertal timing and shed new light both on the indicators used in assessing pubertal timing and the underlying mechanisms. While emphasis is usually on advancement in timing of female puberty, it appears that timing also changes in males, both towards earliness for the initial pubertal stages and towards lateness for the final stages. Such findings suggest that the environmental influences on pubertal timing are more complex than initially thought. Moreover, self-evaluated pubertal timing versus peers provides information that is not always consistent with observations at physical examination, suggesting that both perspectives should be considered, especially when studying the correlation between pubertal timing and psychosocial aspects. The mechanisms of changes in pubertal timing may involve both central neuroendocrine control and peripheral effects in tissues targeted by gonadal steroids. Though energy availability is certainly a clue to the mechanism of pubertal development, changes in the control of both energy balance and control of reproduction may vary under the influence of common determinants such as endocrine-disrupting chemicals. These effects can take place right before puberty as well as much earlier, during fetal and neonatal life. Finally, environmental factors can interact with genetic factors in determining changes in pubertal timing. Therefore, the variance in pubertal timing is no longer to be considered under the absolutely separate control of environmental and genetic determinants.  [less ▲]

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See detailSexually dimorphic effect of gestational exposure to BPA on DNA methylation pattern in the rat placenta
FUDVOYE, Julie ULg; Dehan, Pierre ULg; Trooskens, Gheert et al

Conference (2014, October 27)

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See detailA novel mutation of the luteinizing hormone/choionic gonadotrophin receptor gene leading to Leydig cell hypoplasia type I
Potorac, Iulia ULg; Rivero-Müller, Adolfo; Pintiaux, Axelle ULg et al

in Abstract book - 24th Meeting of the Belgian Endocrine Society (2014, October 18)

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See detailPubertal timing after neonatal diethylstilbestrol exposure in female rats: Neuroendocrine vs peripheral effects and additive role of prenatal food restriction.
Franssen, Delphine ULg; Ioannou, Yiannis S.; Alvarez-Real, Alexandra et al

in Reproductive toxicology (Elmsford, N.Y.) (2014), (44), 63-72

We studied the effects of neonatal exposure to diethylstilbestrol (DES) on pubertal timing in female rats. We examined associated neuroendocrine changes and effects of prenatal food restriction. Age at ... [more ▼]

We studied the effects of neonatal exposure to diethylstilbestrol (DES) on pubertal timing in female rats. We examined associated neuroendocrine changes and effects of prenatal food restriction. Age at vaginal opening was advanced after exposure to 10mug/kg/d of DES and delayed after 1mug/kg/d (subcutaneous injections). Using this lower dose, pulsatile GnRH secretion was slower at 25 days of age. Both doses reduced KiSS1 mRNA levels at 15 days of age. Using functional Kisspeptin promoter assay, 1 or 10muM DES reduced or increased KISS1 transcription, respectively. Leptin stimulatory effect on GnRH secretion in vitro (15 days of age) was reduced after prenatal food restriction and neonatal DES exposure (higher dose), both effects being cumulative. Thus, alterations in pubertal timing by DES neonatally are not unequivocally toward precocity, the level of exposure being critical. We provide evidence of neuroendocrine disruption and interaction with prenatal food availability. [less ▲]

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See detailNormal minipuberty in a patient with DAX-1 mutation: additional evidence of a differential role for DAX-1 during development?
FUDVOYE, Julie ULg; BOURGUIGNON, Jean-Pierre ULg; PARENT, Anne-Simone ULg

Poster (2014, March)

Classically, mutations in the DAX-1 gene cause an adrenal hypoplasia congenita associated with adrenal insufficiency and hypogonadotrophic hypogonadism. However, mini-puberty onset seems to be normal in ... [more ▼]

Classically, mutations in the DAX-1 gene cause an adrenal hypoplasia congenita associated with adrenal insufficiency and hypogonadotrophic hypogonadism. However, mini-puberty onset seems to be normal in those patients suggesting a normal function of the pituitary-gonadal axis during the perinatal period. [less ▲]

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