Publications of Julie FUDVOYE
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See detailCompound heterozygous mutations in the luteinizing hormone receptor signal peptide causing 46,XY disorder of sex development.
NECHIFOR - POTORAC, Iulia ULiege; Trehan, Ashutosh; Szymanska, Kamila et al

in European journal of endocrinology (2019)

Testosterone production by the fetal testis depends on a functional relationship between hCG and the LH/chorionic gonadotrophin receptor (LHCGR). Failure of the receptor to correctly respond to its ligand ... [more ▼]

Testosterone production by the fetal testis depends on a functional relationship between hCG and the LH/chorionic gonadotrophin receptor (LHCGR). Failure of the receptor to correctly respond to its ligand leads to impaired sexual differentiation in males. A phenotypically-female patient with pubertal delay, had a 46,XY karyotype and was diagnosed with 46X,Y disorder of sex development (DSD). Novel compound heterozygous LHCGR mutations were found in the signal peptide: a duplication p.L10_Q17dup of maternal origin, and a deletion (p.K12_L15del) and a p.L16Q missense mutation of paternal origin. cAMP production was very low for both the deletion and duplication mutations and was halved for the missense mutant. The duplication and missense mutations were both expressed intracellularly, but at very low levels at the cell membrane; they were most likely retained in the endoplasmic reticulum. The deletion mutant had a very limited intracellular expression, indicating impaired biosynthesis. There was reduced expression of all three mutants, which was most marked for the deletion mutation. There was also decreased protein expression of all three mutant receptors. In the deletion mutation, the presence of a lower molecular weight band corresponding to LHCGR monomer, probably due to lack of glycosylation, and a lack of bands corresponding to dimers/oligomers suggests absent ER entry. This novel case of 46X,Y DSD illustrates how three different LHCGR signal peptide mutations led to complete receptor inactivation by separate mechanisms. The study underlines the importance of specific regions of signal peptides and expands the spectrum of LHCGR mutations. [less ▲]

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See detailLow/medium doses of inhaled corticosteroids can cause adrenal insufficiency
FUDVOYE, Julie ULiege; LEBRETHON, Marie-Christine ULiege; Parent, Anne-Simone ULiege

in Belgian Journal of Paediatrics (2017, March), 19(1),

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See detail6q24 Transient Neonatal Diabetes - How to Manage while Waiting for Genetic Results.
FUDVOYE, Julie ULiege; Farhat, Khaldoun ULiege; Dehalleux, Virginie ULiege et al

in Frontiers in Pediatrics (2016), 4

Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course ... [more ▼]

Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the fifth day of life, hyperglycemia (180 mg/dl) was noted, and the next day, the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide). Insulin infusion, initially intravenously and then subcutaneously, was started, tailored to assure the growth catch-up and normalize the blood sugar levels. At the age of 4 weeks, the baby returned at home under pump. At 8 weeks, the clinical impression of evolution to a transient diabetes (decreasing needs of insulin with very satisfactory weight gain) was genetically confirmed (paternal uniparental disomy of chromosome 6). There is no screening for neonatal diabetes, but the clinical suspicion avoids the metabolic decompensation and allows early initiation of insulin therapy. The genetic approach (for disease itself and its associated features) relies on timely clinical updates. [less ▲]

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See detailTransient neonatal diabetes mellitus due to paternal uniparental disomy of chromosome 6.
FUDVOYE, Julie ULiege; Farhat, Khaldoun; Nicolescu, Corina Ramona ULiege

Conference (2016, March 10)

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See detailthe development care WEECARE reduces the stress in neonates
Battisti, Oreste ULiege; NYAMUGABO MUNYERE NKANA, Kindja ULiege; zigabe, serge et al

in Annales Africaine de Médecine (2015)

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

Conference (2014, October 27)

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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 ULiege; BOURGUIGNON, Jean-Pierre ULiege; PARENT, Anne-Simone ULiege

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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See detailEndocrine-disrupting chemicals and human growth and maturation: a focus on early critical windows of exposure.
FUDVOYE, Julie ULiege; Bourguignon, Jean-Pierre ULiege; Parent, Anne-Simone ULiege

in Vitamins and Hormones (2014), 94

Endocrine-disrupting chemicals (EDCs) are exogenous substances that interfere with hormone synthesis, metabolism, or action. In addition, some of them could cause epigenetic alterations of DNA that can be ... [more ▼]

Endocrine-disrupting chemicals (EDCs) are exogenous substances that interfere with hormone synthesis, metabolism, or action. In addition, some of them could cause epigenetic alterations of DNA that can be transmitted to the following generations. Because the developing organism is highly dependent on sex steroids and thyroid hormones for its maturation, the fetus and the child are very sensitive to any alteration of their hormonal environment. An additional concern about that early period of life comes from the shaping of the homeostatic mechanisms that takes place also at that time with involvement of epigenetic mechanisms along with the concept of fetal origin of health and disease. In this chapter, we will review the studies reporting effects of EDCs on human development. Using a translational approach, we will review animal studies that can shed light on some mechanisms of action of EDCs on the developing organism. We will focus on the major hormone-dependent stages of development: fetal growth, sexual differentiation, puberty, brain development, and energy balance. We will also discuss the possible epigenetic effects of EDCs on human development. [less ▲]

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See detailLA PERTURBATION ENDOCRINIENNE : entre enjeux de recherche, enjeux de santé publique et enjeux de pratique quotidienne
FUDVOYE, Julie ULiege; Franssen, Delphine ULiege; Naveau, Elise ULiege et al

in Revue Médicale de Liège (2014)

Epidemiological and experimental data highlight the fetal and early postnatal life as critical periods for the effects of endocrine disrupting chemicals (EDCs), since exposure to EDCs during these periods ... [more ▼]

Epidemiological and experimental data highlight the fetal and early postnatal life as critical periods for the effects of endocrine disrupting chemicals (EDCs), since exposure to EDCs during these periods can predispose to disease later in life. EDCs’ effects include disorders of the reproductive system throughout life (abnormalities of sexual differentiation, infertility or subfertility and some neoplasia) and disorders of energy balance (obesity and metabolic syndrome). They could also influence the development of the cerebral cortex. However, the demonstration of the involvement of a single EDC remains difficult in human since we are virtually exposed to a mixture of several ubiquitous EDCs which are variably persistent in the environment and the body and have lifelong consequences. Moreover, since their dose-response relationship can be non-monotonic, setting a threshold dose for EDCs effects has become meaningless. Pregnant women, newborns and young children appear to be mostly at risk. However, the role of the physician remains difficult and raises several questions: how can we formulate justified, applicable and updated recommendations that are not counterproductive or alarmist…in a society that has to take the necessary steps to regulate production and protect the population? [less ▲]

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See detailDelayed puberty in a girl due to an inactivating mutation of the LH receptor
FUDVOYE, Julie ULiege; PARENT, Anne-Simone ULiege; Bourguignon, Jean-Pierre ULiege

Poster (2012, March)

We report the case of a 46 XY patient with a disorder of sex differentiation (DSD) caused by an inactivating mutation of the LH receptor. Mutations of genes involved in hypothalamic-pituitary-gonadal ... [more ▼]

We report the case of a 46 XY patient with a disorder of sex differentiation (DSD) caused by an inactivating mutation of the LH receptor. Mutations of genes involved in hypothalamic-pituitary-gonadal function are rare but they provide an experience of nature for understanding the physiology and the pathophysiology of gonadotropins actions. There arise from correlation between the phenotypes and genotypes in those unique conditions. Management of this particular patient with no LH activity involves oestrogen replacement therapy to induce breast development together with a gonadectomy due to the risk of gonadoblastoma in streak gonads. [less ▲]

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