caa a22 4500 467983771 CHVBK 20180323112525.0 cr unu---uuuuu 170328e19900301xx s 000 0 eng 10.1007/BF00196234 doi (NATIONALLICENCE)springer-10.1007/BF00196234 A possible common origin of "Y-negative” human XX males and XX true hermaphrodites [Elektronische Daten] [Nacer Abbas, Jean Toublanc, Chafika Boucekkine, Marianne Toublanc, Nabeel Affara, Jean-Claude Job, Marc Fellous] Summary: We have studied nine patients aged 1 month to 16 years with 46, XX karyotypes and testicular tissue. Some of these patients were followed through puberty. Phenotypically, two presented normal and seven abnormal external genitalia (AG). Among this latter group, four showed hypospadias and three true hermaphroditism (TH). The endocrine data were similar in all three groups: testosterone levels were within normal limits during puberty, decreasing in adulthood; gonadotrophin levels were above the control values at mid puberty. Histologies of the two sub groups of AG patients were identical up to 5 years of age and presented differences when compared with controls, regardless of the ovarian part of the ovotestis. However, in patients older than 8 years, germ cells disappeared and dysgenesis became obvious. In one patient, the ovarian zone of the gonad was detected only after complete serial sections of the removed gonad were examined. Southern blot analysis with Y-DNA probes displayed Y-specific material for the classic 46 XX males and a lack of such sequences for all patients with AG and TH. Based on these findings, we postulate that 46, XX males with AG and 46, XX TH may represent altenative manifestations of the same genetic defect. These data together with those concerning familial cases of 46, XX males with AG and 46, XX TH suggest an autosomally (or pseudoautosomally) determined mechanism. Springer-Verlag, 1990 Abbas Nacer Institut Pasteur, U.R. 276 INSERM, 28, Rue du Dr. Roux, F-75724, Paris Cedex, France aut Toublanc Jean Hôpital Saint Vincent-de-Paul, 74, Avenue Denfert Rochereau, 14, Paris Cedex, France aut Boucekkine Chafika Service d'Endocrinologie, Hôpital des Bains Romains, CHU Bologhine, Alger, Algeria aut Toublanc Marianne Department of Pathology, Hôpital Bichat, 46, Rue Henri Huchard, 18, Paris Cedex, France aut Affara Nabeel Department of Pathology, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK aut Job Jean-Claude Hôpital Saint Vincent-de-Paul, 74, Avenue Denfert Rochereau, 14, Paris Cedex, France aut Fellous Marc Institut Pasteur, U.R. 276 INSERM, 28, Rue du Dr. Roux, F-75724, Paris Cedex, France aut Human Genetics Springer-Verlag 84/4(1990-03-01), 356-360 0340-6717 84:4<356 1990 84 439 https://doi.org/10.1007/BF00196234 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00196234 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Abbas Nacer Institut Pasteur, U.R. 276 INSERM, 28, Rue du Dr. Roux, F-75724, Paris Cedex, France aut NATIONALLICENCE 700 1- Toublanc Jean Hôpital Saint Vincent-de-Paul, 74, Avenue Denfert Rochereau, 14, Paris Cedex, France aut NATIONALLICENCE 700 1- Boucekkine Chafika Service d'Endocrinologie, Hôpital des Bains Romains, CHU Bologhine, Alger, Algeria aut NATIONALLICENCE 700 1- Toublanc Marianne Department of Pathology, Hôpital Bichat, 46, Rue Henri Huchard, 18, Paris Cedex, France aut NATIONALLICENCE 700 1- Affara Nabeel Department of Pathology, University of Cambridge, Tennis Court Road, CB2 1QP, Cambridge, UK aut NATIONALLICENCE 700 1- Job Jean-Claude Hôpital Saint Vincent-de-Paul, 74, Avenue Denfert Rochereau, 14, Paris Cedex, France aut NATIONALLICENCE 700 1- Fellous Marc Institut Pasteur, U.R. 276 INSERM, 28, Rue du Dr. Roux, F-75724, Paris Cedex, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/4(1990-03-01), 356-360 0340-6717 84:4<356 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer