In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X[8]/46,X,idic(Y)(pter→q11.2::q11.2→pter)[42]. This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-β-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.

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IntroductionIdentifying newborns who weight 4000 g or more is important because birth of macrosomic fetuses is associated with adverse peripartum outcomes. Ultrasound is widely used for this purpose Our objective was to evaluate the diagnostic value of sonographic measurement of fetal abdominal circumference (AC) over 350 mm for the prediction of fetal macrosomia and shoulder dystocia, to specify factors that could generate errors in its measure.MethodsA retrospective clinical trial was conducted at the Department of Obstetrics and Gynecology, Hédi Chaker Hospital, Sfax, Tunisia. The study consisted of comparing two groups of singleton newborns: the first group (n=465) includes macrosomic babies and the second group (n=465) includes the non macrosomic ones. All women underwent sonographic measurements of the fetal abdominal circumference (AC) within 72 hours before delivery. The AC values were correlated to actual fetal birth weight. The cut-off value of AC for predicting of fetal macrosomia was analyzed.ResultsA cut-off value of abdominal circumference ≥350 mm, in predicting of fetal macrosomia., had a sensitivity, specificity, accuracy, positive predictive value, and negative predictive value: 78.7%, 76.8%, 77%, 92.6%, and 49.2%, respectively. In macrosomic group obesity was significantly more frequent when AC≥350mm.ConclusionThe fetal AC measurement was useful in predicting of fetal macrosomia. An AC measurement AC≥350mm could help to suspect shoulder dystocia.

L'hyperemesis gravidarum s'accompagne habituellement d'une perte de poids, d'une acétonurie et de troubles hydro-électrolytiques comme il peut également s'accompagner d'anomalies du bilan hépatique. Nous rapportons un cas de vomissements gravidiques à 10 semaines d'aménorrhée non traité et vu tardivement avec des troubles ioniques sévères associés à des répercussions cliniques dans un contexte de cytolyse, de cholestase et d'insuffisance rénale aigue. Ce cas a bien répondu au traitement médical.