Objective: To directly test gonadal function in a patient with X-linked lissencephaly with ambiguous genitalia (XLAG) in light of lack of previous functional data.
Study Design And Results: We studied an infant who failed to increase testosterone levels in response to hCG stimulation.
Conclusion: In XLAG, the gonads are not only structurally dysgenetic but also functionally abnormal.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1515/jpem.2006.19.7.955 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Double Cortex Syndrome (Subcortical Band Heterotopia).
Neurol India
March 2024
Department of Radiodiagnosis, Sree Balaji Medical College and Hospital, 7, Works Road Chromepet, Chennai, Tamil Nadu, India.
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.
Int J Mol Sci
May 2024
Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, 88100 Catanzaro, Italy.
Doublecortin, encoded by the gene, plays a crucial role in the neuronal migration process during brain development. Pathogenic variants of the gene are the major causes of the "lissencephaly (LIS) spectrum", which comprehends a milder phenotype like Subcortical Band Heterotopia (SBH) in heterozygous female subjects. We performed targeted sequencing in three unrelated female cases with SBH.
View Article and Find Full Text PDFGeneration of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene.
Stem Cell Res
April 2024
Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China. Electronic address:
Subcortical band heterotopia (SHB) is a rare severe brain developmental malformation caused by deficient neuronal migration during the development of cerebral cortex. Here, a human induced pluripotent stem cell (iPSCs) line was established from a 4-year-1-month-old girl with SHB carrying a heterozygous mutation (c.568A > G, p.
View Article and Find Full Text PDFILAE neuroimaging task force highlight: Subcortical laminar heterotopia.
Epileptic Disord
April 2024
Department of Neurosurgery and Department of Neuroradiology, University Hospital Erlangen, Erlangen, Germany.
The ILAE Neuroimaging Task Force publishes educational case reports that highlight basic aspects of neuroimaging in epilepsy consistent with the ILAE's educational mission. Subcortical laminar heterotopia, also known as subcortical band heterotopia (SBH) or "double cortex," is an intriguing and rare congenital malformation of cortical development. SBH lesions are part of a continuum best designated as agyria-pachygyria-band-spectrum.
View Article and Find Full Text PDFLeveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.
Epilepsia Open
April 2024
Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
About 50% of individuals with developmental and epileptic encephalopathies (DEEs) are unsolved following genetic testing. Deep intronic variants, defined as >100 bp from exon-intron junctions, contribute to disease by affecting the splicing of mRNAs in clinically relevant genes. Identifying deep intronic pathogenic variants is challenging and resource intensive, and interpretation is difficult due to limited functional annotations.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!