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Primary hypogonadism in a case with XLAG syndrome
-
Özmert M.A. Özdemir
,
Murat Çağlar
Published/Copyright:
September 18, 2012
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.
Received: 2012-8-14
Accepted: 2012-8-17
Published Online: 2012-09-18
Published in Print: 2012-12-01
©2012 by Walter de Gruyter Berlin Boston
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- Tuber sinerium hamartoma causing precocious puberty in a child
- Original articles
- Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche
- Disorders of sex development among Sudanese children: 5-year experience of a pediatric endocrinology clinic
- Anti-Müllerian hormone levels in serum 1 year after unilateral orchiopexy
- Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency
- Apparent mineralocorticoid excess syndrome: report of one family with three affected children
- A decrease in fasting FGF19 levels is associated with the development of non-alcoholic fatty liver disease in obese adolescents
- Acanthosis nigricans predicts the clustering of metabolic syndrome components in Hispanic elementary school-aged children
- Nutritional and metabolic findings in patients with Prader-Willi syndrome diagnosed in early infancy
- Increased endothelial microparticles in obese and overweight children
- The treatment effect of diazoxide on 44 patients with congenital hyperinsulinism
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- Oxidant/antioxidant system markers and trace element levels in children with nutritional rickets
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- Patient reports
- Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation
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- Chylomicron retention disease: report of two cases from a Greek Island
- Cerebellar metastatic papillary thyroid carcinoma in a pediatric patient with complex congenital heart disease
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