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https://hdl.handle.net/11499/8380
Title: | Primary hypogonadism in a case with XLAG syndrome | Authors: | Özdemir, Özmert Muhammet Ali Çaglar, Murat Koçyigit, Ali Dündar, N.O. Sangün, Ö. Dündar, B. |
Keywords: | Ambiguous genitalia Primary hypogonadism XLAG syndrome chorionic gonadotropin testosterone agyria ambiguous genitalia article brain ventricle case report corpus callosum agenesis face dysmorphia human hypogonadism infant karyotype male microcephaly non febrile seizure nuclear magnetic resonance imaging seizure X chromosome linked disorder x linked lissencephaly with ambiguous genitalia syndrome Chromosomes, Human, X Corpus Callosum Electroencephalography Epilepsy Eunuchism Genetic Diseases, X-Linked Genitalia, Male Humans Infant Lissencephaly Magnetic Resonance Imaging Male Syndrome |
Abstract: | Patients with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, microcephaly, and male genotype with ambiguous genitalia. The basis of the ambiguous genitalia in XLAG syndrome is not well-known. We report a case of the fourth child of healthy consanguineous parents who was presented to the hospital because of non-febrile seizures at 2 months of life. On physical examination, microcephaly, some dysmorphic face features, and ambiguous genitalia were determined. The cranial magnetic resonance imaging of the patient showed lissencephaly, agenesis of the corpus callosum, and enlarged ventricles. His karyotype was 46, XY. He had undetectable testosterone levels and elevated gonadotropins. Neither testicular tissue nor any testosterone response to human chorionic gonadotropin stimulation test was observed. These findings suggest that the hypogonadism in this patient with XLAG syndrome is primary hypogonadism due to gonadal agenesis or dysgenesis. | URI: | https://hdl.handle.net/11499/8380 https://doi.org/10.1515/jpem-2012-0266 |
ISSN: | 0334-018X |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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