Please use this identifier to cite or link to this item: 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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