General features of XLAG syndrome are lissencephaly, agenesis of the corpus callosum, intractable epile psy of neonatal onset, acquired microcephaly a nd male genotype with ambiguous genitalia (2).Learn more DOI: 10.1515jpem-2012-0266 Source: PubMed Cite this publication Ozmert M A Ozdemir Murat Calar 2 Ali Koyiit 28.59 Liv Hospital Nihal Olgac Dundar 29.29 Izmir Katip Celebi Universitesi Show more authors Hide Abstract 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. 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. Xlag 3.0 For Free Advertisement ContentDiscover the worlds research 17 million members 135 million publications 700k research projects Join for free Advertisement Content uploaded by Nihal Olgac Dundar Author content All content in this area was uploaded by Nihal Olgac Dundar on Sep 28, 2014 Content may be subject to copyright. The basis of the ambiguous genitalia in XLAG syndrome is not well known. Fourth child born to healthy consanguineous parents was accepted to hospital because of non-febrile seizures at two months of life. On physical examination, microcephaly, some dysmorphic face features and ambiguous genitalia were determined. Cranial MRI of the patient showed lissencephaly, agenesis of the corpus callosum and enlarged ventricles. No any testes tissue and no any testosterone response to hCG stimulation test were observed. These findings suggest that hypogonadism in the presented patient with XLAG syndrome is primary hypogonadism due to gonadal agenesis or dysgenesis. The basis of the ambiguous genitalia in XLAG syndrome i s not well known. Fourth child born to healthy c onsanguineous parents was acce pted to hospital be cause of non-febrile seizures at two m onths of life. On physical examination, microcephaly, some dysmorphic face features and ambi guous genitalia were determined. C ranial MRI of the patient showed lissencephaly, agenes is of the corpus callosum and enlarged ventricles. These findings suggest that hypogonadism in the presented patient with XLAG syndrome is primary hypogonadi sm due to gonadal agenesis or dysgenesis. Key Words: ambiguous genitalia, primary hypogonadism, XLAG syndrome Page 2 of 9 Journal of Pediatric Endocrinology and Metabolism 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60.
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