54 research outputs found

    Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5)

    Get PDF
    BackgroundSteroidogenic factor 1 (SF-1), encoded by the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene, is a transcriptional factor crucial for adrenal and gonadal organogenesis. Pathogenic variants of NR5A1 are responsible for a wide spectrum of phenotypes with autosomal dominant inheritance including disorders of sex development and oligospermia–azoospermia in 46,XY adults. Preservation of fertility remains challenging in these patients.ObjectiveThe aim was to offer fertility preservation at the end of puberty in an NR5A1 mutated patient.Case reportThe patient was born of non-consanguineous parents, with a disorder of sex development, a small genital bud, perineal hypospadias, and gonads in the left labioscrotal fold and the right inguinal region. Neither uterus nor vagina was detected. The karyotype was 46,XY. Anti-MĂŒllerian hormone (AMH) and testosterone levels were low, indicating testicular dysgenesis. The child was raised as a boy. At 9 years old, he presented with precocious puberty treated by triptorelin. At puberty, follicle-stimulating hormone (FSH), luteinising hormone (LH), and testosterone levels increased, whereas AMH, inhibin B, and testicular volume were low, suggesting an impaired Sertoli cell function and a partially preserved Leydig cell function. A genetic study performed at almost 15 years old identified the new frameshift variant NM_004959.5: c.207del p.(Phe70Serfs*5) at a heterozygous state. He was thus addressed for fertility preservation. No sperm cells could be retrieved from three semen collections between the ages of 16 years 4 months and 16 years 10 months. A conventional bilateral testicular biopsy and testicular sperm extraction were performed at 17 years 10 months of age, but no sperm cells were found. Histological analysis revealed an aspect of mosaicism with seminiferous tubules that were either atrophic, with Sertoli cells only, or presenting an arrest of spermatogenesis at the spermatocyte stage.ConclusionWe report a case with a new NR5A1 variant. The fertility preservation protocol proposed at the end of puberty did not allow any sperm retrieval for future parenthood

    Les cinquante ans du Traité de Rome

    No full text
    50th anniversary of the Treaty of Rome The 50th anniversary of the Treaty of Rome is an opportunity to retrace the steps taken by the promoters of European integration and pay tribute to the founding fathers. From the reform of Community institutions to the creation of a European monetary system, the author revisits the highlights of his political career and European commitment. Bearing witness to this commitment was his term as Chairman of the European Convention, which had the ambition of completing European integration and defining a long-term institutional framework for a united Europe. JEL classification : F15, N14Le 50e anniversaire du TraitĂ© de Rome est l’occasion de retracer le chemin parcouru par les promoteurs de la construction europĂ©enne et de rendre hommage aux pĂšres fondateurs. De la rĂ©forme des institutions communautaires Ă  la crĂ©ation du systĂšme monĂ©taire europĂ©en, l’auteur revient sur ce qui a Ă©tĂ© au coeur de son action politique et de son engagement europĂ©en. En tĂ©moigne aussi sa prĂ©sidence de la Convention europĂ©enne dont l’ambition fut celle de parachever la construction europĂ©enne et d’en dĂ©finir un cadre institutionnel pĂ©renne. Classification JEL : F15, N14Giscard d’Estaing ValĂ©ry. Les cinquante ans du TraitĂ© de Rome . In: Revue d'Ă©conomie financiĂšre, n°88, 2007. 50 ans aprĂšs le TraitĂ© de Rome. pp. 19-24

    Avant-propos

    No full text
    Giscard d’Estaing ValĂ©ry. Avant-propos. In: Le concile de Clermont de 1095 et l’appel Ă  la croisade. Actes du Colloque Universitaire International de Clermont-Ferrand (23-25 juin 1995) Rome : École Française de Rome, 1997. pp. 9-14. (Publications de l'École française de Rome, 236

    Valéry Giscard d'Estaing, Assemblée annuelle de la BIRD et du FMI, le 26 septembre 1971.

    No full text
    Giscard d’Estaing ValĂ©ry. ValĂ©ry Giscard d'Estaing, AssemblĂ©e annuelle de la BIRD et du FMI, le 26 septembre 1971. In: Revue d'Ă©conomie financiĂšre. Hors-sĂ©rie, 1994. Bretton Woods : mĂ©langes pour un cinquantenaire. p. 370

    Préface

    No full text
    Il m’est trĂšs agrĂ©able d’accompagner par quelques mots de prĂ©sentation les souvenirs de Guy Delorme. En raison tout d’abord de la personnalitĂ© de l’auteur. CompĂ©tent, prĂ©cis, ferme, droit, courageux, tels sont les mots qui viennent naturellement sous la plume pour parler de lui. Serviteur de l’État, avec tout ce que cette expression peut avoir aujourd’hui, je m’en rends compte, de surannĂ©. Il apparaissait Ă  notre gĂ©nĂ©ration que servir la collectivitĂ© dans un pays dĂ©vastĂ© et humiliĂ© par la gue..

    Avant-propos

    No full text
    Giscard d’Estaing ValĂ©ry. Avant-propos. In: Le concile de Clermont de 1095 et l’appel Ă  la croisade. Actes du Colloque Universitaire International de Clermont-Ferrand (23-25 juin 1995) Rome : École Française de Rome, 1997. pp. 9-14. (Publications de l'École française de Rome, 236

    Valéry Giscard d'Estaing, Assemblée annuelle de la BIRD et du FMI, le 26 septembre 1971.

    No full text
    Giscard d’Estaing ValĂ©ry. ValĂ©ry Giscard d'Estaing, AssemblĂ©e annuelle de la BIRD et du FMI, le 26 septembre 1971. In: Revue d'Ă©conomie financiĂšre. Hors-sĂ©rie, 1994. Bretton Woods : mĂ©langes pour un cinquantenaire. p. 370

    Préface

    No full text
    Il m’est trĂšs agrĂ©able d’accompagner par quelques mots de prĂ©sentation les souvenirs de Guy Delorme. En raison tout d’abord de la personnalitĂ© de l’auteur. CompĂ©tent, prĂ©cis, ferme, droit, courageux, tels sont les mots qui viennent naturellement sous la plume pour parler de lui. Serviteur de l’État, avec tout ce que cette expression peut avoir aujourd’hui, je m’en rends compte, de surannĂ©. Il apparaissait Ă  notre gĂ©nĂ©ration que servir la collectivitĂ© dans un pays dĂ©vastĂ© et humiliĂ© par la gue..
    • 

    corecore