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Focuses on a case study of Pitt-Rogers-Danks syndrome (PRDS) and Wolf-Hirschhorn Syndrome (WHS) in children using fluorescence in situ hybridization. Case report; Description of PRDS; Clinical features of WHS and PRDS.

La prise en charge des enfants et adolescents porteurs d'un diagnostic de Désordre de développement du sexe (DDS) est aujourd'hui une question en débat et en discussion tant sur le plan des pratiques soignantes, que sur le champ social et politique. Une des préoccupations centrales des équipes de soins engagées autour de la prise en charge et l'accompagnement des personnes porteuses d'un DDS et de pouvoir proposer une prise en charge la plus efficiente dans l'objectif de promouvoir le meilleur épanouissement possible des personnes concernées. Si l'un des points centraux des échanges actuels porte sur la question des indications de prises en charge médicochirurgicales précoces, la question se porte tout autant sur la place et les modalités d'assignation de genre d'un enfant à sa naissance et des différentes conséquences pour lui dans sa vie future. La question du devenir des enfants nés et porteurs d'un DDS en termes d'inscription dans une identité de genre est étudiée depuis les années 1950 et s'est développée sur des présupposés théoriques très divers ; du champ psychodynamique et psychanalytique à des présupposés biologiques. La littérature scientifique est particulièrement hétérogène sur le sujet et recoupe des méthodologies de type reports d'expérience, des études cas témoins comme des méthodologies issues de l'Evidence Based Medecine. En appui des éléments issus de la littérature scientifique et en appui d'un travail collaboratif du réseau national des Centres de référence maladies rares du développement génital: du fœtus à l'adulte, ce travail vise à définir les contours des modalités d'organisation et des aspects déontologiques actuels des équipes engagées autour de cette activité sur le territoire français. The care of children and adolescents with a diagnosis of Sex Development Disorder (DSD) is today a matter of debate and discussion both in terms of care practices and in the social and political fields. One of the central concerns of the healthcare teams involved in the care and support of people with DDS is the ability to offer the most efficient care in order to promote the best possible development of the individuals concerned. While one of the central points of the current discussions concerns the question of indications for early medical and surgical care, the discussion also concerns the place and modalities of gender assignment of a child at birth and the different consequences for them in their future life. The question of the future of children born with DSD in terms of inclusion in a gender identity has been studied since the 1950s and has developed along very different theoretical presuppositions; from the psychodynamic and psychoanalytical field to biological presuppositions. The scientific literature is particularly heterogeneous on the subject and includes methodologies such as experience reports, case-control studies and methodologies from Evidence Based Medicine. In support of the elements from the scientific literature and in support of collaborative work by the national network of the Centers for Rare Diseases of Genital Development: from foetus to adult, this work aims to define the outlines of the current organisational arrangements and ethical aspects of the teams involved in this activity in France. [ABSTRACT FROM AUTHOR]

Steroidogenic factor 1 (encoded by SF1/ NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous non-sense NR5A1 mutation in a 46, XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia. [ABSTRACT FROM AUTHOR]

Abstract: This article focuses on six questions raised by genetic testing in human: (1) the use of genetic tests, (2) information given to relatives of patients affected with genetic disorders, (3) prenatal and preimplantatory diagnosis for late onset genetic diseases and the use of pangenomic tests in prenatal diagnosis, (4) direct-to-consumer genetic testing, (5) population screening in the age of genomic medicine and (6) incidental findings when genetic testing are used. [ABSTRACT FROM AUTHOR]

Abstract: We report the fifth case of neonatal form of type C2 (NP-C2) Niemann-Pick disease with early and fatal respiratory distress. Eleven families presenting such cases are known to date in the world. Since December 2000, isolation of the underlying gene HE1/NPC2 and its mutations has allowed major advances in diagnosis. Case report. – Elisa was born in May 2000. NP-C2 disease was associated with severe respiratory distress leading to death at the age of four months. On the next pregnancy in September 2000, prenatal diagnosis was performed by means of biological tests that required four weeks response time. In December 2000, isolation of the HE1/NPC2 gene located to 14q24.3 and of some of its mutations allowed to characterize the patient as being homozygote for the nonsense mutation E20X. On the the two next pregnancies, prenatal diagnosis was performed at 12 SA, in 48 hours, by the means of mutation analysis. The last fetus was heterozygote for the mutation E20X, allowing the birth at term of a healthy male newborn baby. Conclusion. – Niemann-Pick type C disease is a rare lysosomal lipid storage disease with severe prognosis. It is characterized by abnormalities of intracellular transport of endocytosed cholesterol. Diagnosis relies on biological tests that require cultured cells. Genetic heterogeneity defines two different genetic complementation groups C1 and C2. Severe and early respiratory distress is more likely to be associated with the rare type C2. Since December 2000, after identification of the disease-causing mutations in the proband, mutation analysis of gene HE1/NPC2 on direct chorionic villus samples allows early and fast (48 hours) prenatal diagnosis. [Copyright &y& Elsevier]