caa a22 4500 47578524X CHVBK 20180406123656.0 cr unu---uuuuu 170329e20000201xx s 000 0 eng 10.1007/s004310050048 doi (NATIONALLICENCE)springer-10.1007/s004310050048 Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma [Elektronische Daten] [C. Roth, B. Hinney, M. Peter, D. Steinberger, M. Lakomek] We report a female newborn with characteristic signs of Antley-Bixler syndrome (ABS) such as midface hypoplasia, radiohumeral synostosis and multiple joint contractures. The newborn also presented ambiguous genitalia, stage Prader V, and congenital adrenal hyperplasia. The mother experienced midterm virilization due to a pregnancy luteoma. Her elevated androgen levels and virilization symptoms normalized post partum without treatment. The newborn had elevated serum testosterone and 17-OH-progesterone levels which remained elevated because of a 21-hydroxylase deficiency. The child's treatment in order of priority was: hydrocortisone substitution, craniofacial/skeletal anomaly management and surgical correction of the external genitalia. Mutations in the genes for fibroblast growth factor (FGF) 8 and receptors FGFR1, FGFR2, and FGFR3 were not detected. Conclusion A newborn girl with manifestations of the Antley-Bixler syndrome showed severe virilization probably caused by the association of a mild 21-hydroxylase deficiency and maternal hyperandrogenism due to a pregnancy luteoma. Abnormalities of androgen metabolism may be responsible for virilization reported in other cases of the Antley-Bixler syndrome. Springer-Verlag Berlin Heidelberg, 2000 Key words Antley-Bixler syndrome nationallicence Intersexual genitalia nationallicence Pregnancy luteoma nationallicence 21-Hydroxylase deficiency nationallicence Fibroblast growth factor receptor nationallicence Roth C. Children's Hospital, University of Göttingen, Robert-Koch-Straße 40, 37075 Göttingen, Germany e-mail: croth@med.uni-goettingen.de; Fax: +49-551-396231, DE aut Hinney B. Gynaecology and Obstetrics University of Göttingen, Robert-Koch-Straße 40, 37075 Göttingen, Germany, DE aut Peter M. Division d'Endocrinologie et de Diabetologie Pediatriques, Departement de Pediatrie, Hopital Universitaire de Geneve, Rue Willy Donze 6, 1211 Geneve 14, Switzerland, CH aut Steinberger D. Institut für Humangenetik, Universität Gießen, Schlangenzahl 14, 35392 Gießen, Germany, DE aut Lakomek M. Children's Hospital, University of Göttingen, Robert-Koch-Straße 40, 37075 Göttingen, Germany e-mail: croth@med.uni-goettingen.de; Fax: +49-551-396231, DE aut https://doi.org/10.1007/s004310050048 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310050048 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Roth C. Children's Hospital, University of Göttingen, Robert-Koch-Straße 40, 37075 Göttingen, Germany e-mail: croth@med.uni-goettingen.de; Fax: +49-551-396231, DE aut NATIONALLICENCE 700 1- Hinney B. Gynaecology and Obstetrics University of Göttingen, Robert-Koch-Straße 40, 37075 Göttingen, Germany, DE aut NATIONALLICENCE 700 1- Peter M. Division d'Endocrinologie et de Diabetologie Pediatriques, Departement de Pediatrie, Hopital Universitaire de Geneve, Rue Willy Donze 6, 1211 Geneve 14, Switzerland, CH aut NATIONALLICENCE 700 1- Steinberger D. Institut für Humangenetik, Universität Gießen, Schlangenzahl 14, 35392 Gießen, Germany, DE aut NATIONALLICENCE 700 1- Lakomek M. Children's Hospital, University of Göttingen, Robert-Koch-Straße 40, 37075 Göttingen, Germany e-mail: croth@med.uni-goettingen.de; Fax: +49-551-396231, DE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer