A5030956112- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Childhood Cancer Survivors' Quality of Life
- Testicular diseases and treatments
- Renal and related cancers
- Urological Disorders and Treatments
- Acute Lymphoblastic Leukemia research
- Urologic and reproductive health conditions
- Sperm and Testicular Function
- LGBTQ Health, Identity, and Policy
- Reproductive Biology and Fertility
- Sexuality, Behavior, and Technology
Hospital General de Niños Ricardo Gutierrez
2022-2025
Consejo Nacional de Investigaciones Científicas y Técnicas
2022-2025
Abstract Background 46,XY gonadal dysgenesis is classified as complete (CGD) or partial (PGD) subtypes. The phenotype of PGD and the long-term outcome not clearly defined. Objective To evaluate clinical features pubertal in a large cohort, using CGD comparator for diagnostic clarity. Methods Patients with GD were identified from I-DSD Registry data on phenotype, genetics, biochemistry, histology development collated three categories; (n=100), assigned female (PGDf, n=107) male (PGDm, n=103)...
Introduction Hematopoietic malignancies are the most frequent type of cancer in childhood. Recent advances treatment have significantly improved survival until adulthood. There is an extensive literature on effects gonadal axis adult survivors childhood mainly focused sperm production, but scarce information exists immediate impact and its boys. Objectives In this work, we determined status hypothalamic-pituitary-testicular (HPT) function at diagnosis chemotherapy start children adolescents...
In patients with 46,XY disorders of sex development (DSDs), next-generation sequencing (NGS) has high diagnostic efficiency. One contribution to this approach is the possibility applying reverse phenotyping when a variant in gene associated multiple organ hits found. Our aim report case patient DSDs whom identification novel MYRF led detection clinically inapparent congenital heart defect. A full-term newborn presented ambiguous genitalia, as follows: 2 cm phallus, penoscrotal hypospadias,...