caa a22 4500 475785126 CHVBK 20180406123655.0 cr unu---uuuuu 170329e20001101xx s 000 0 eng 10.1007/PL00008369 doi (NATIONALLICENCE)springer-10.1007/PL00008369 Familial disorder of sex determination in seven individuals from three related sibships [Elektronische Daten] [Nadim Jarrah, Hatem El-Shanti, Ahmad Khier, Fatima Nouri Obeidat, Azmi Haddidi, Kamel Ajlouni] In humans, the sex of an individual is determined by the Y-chromosome-related SRY gene, which causes the differentiation of the undifferentiated gonads into testicular tissue. True hermaphrodites without a Y chromosome and XX males represent a sex determination error in which testicular tissue develops despite the absence of the SRY gene. Familial forms of XX true hermaphrodites and XX males exist in the literature, which also contains the two forms co-existing in the same family. In this report, we present a large family with seven affected individuals with phenotypes ranging from XX male to XX true hermaphrodite with predominance of female characteristics. We suggest that XX maleness and XX true hermaphroditism represent a continuum of the same disorder. We speculate on the mode of inheritance of this disorder in this particular family. Springer-Verlag Berlin Heidelberg, 2000 Key words XX Male nationallicence XX True hermaphrodite nationallicence Sex differentiation nationallicence Sex determination nationallicence Ovotestis nationallicence Jarrah Nadim National Centre for Diabetes, Endocrinology and Genetics, Amman, Jordan, JO aut El-Shanti Hatem National Centre for Diabetes, Endocrinology and Genetics, PO Box 13165, Amman 11942, Jordan e-mail: hatem@just.edu.jo Fax: +962-6-5353376, JO aut Khier Ahmad Al-Bashir Hospital, Ministry of Health, Amman, Jordan, JO aut Obeidat Fatima Nouri Department of Pathology, Jordan University Hospital, Amman, Jordan, JO aut Haddidi Azmi Department of Radiology, Jordan University Hospital, Amman, Jordan, JO aut Ajlouni Kamel National Centre for Diabetes, Endocrinology and Genetics, Amman, Jordan, JO aut https://doi.org/10.1007/PL00008369 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00008369 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Jarrah Nadim National Centre for Diabetes, Endocrinology and Genetics, Amman, Jordan, JO aut NATIONALLICENCE 700 1- El-Shanti Hatem National Centre for Diabetes, Endocrinology and Genetics, PO Box 13165, Amman 11942, Jordan e-mail: hatem@just.edu.jo Fax: +962-6-5353376, JO aut NATIONALLICENCE 700 1- Khier Ahmad Al-Bashir Hospital, Ministry of Health, Amman, Jordan, JO aut NATIONALLICENCE 700 1- Obeidat Fatima Nouri Department of Pathology, Jordan University Hospital, Amman, Jordan, JO aut NATIONALLICENCE 700 1- Haddidi Azmi Department of Radiology, Jordan University Hospital, Amman, Jordan, JO aut NATIONALLICENCE 700 1- Ajlouni Kamel National Centre for Diabetes, Endocrinology and Genetics, Amman, Jordan, JO aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer