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Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis
- Source :
- Sexual Development. 13:171-177
- Publication Year :
- 2019
- Publisher :
- S. Karger AG, 2019.
-
Abstract
- Historically, the terms partial (PGD) and mixed gonadal dysgenesis (MGD) have been used to describe incomplete testicular differentiation in individuals with 46,XY or 45,X/46,XY karyotypes, respectively. However, it is currently unclear to what extent clinical features actually differ between these individuals. The aim of this study was to compare clinical, laboratory, and histological findings in these 2 groups. Patients with testicular dysgenesis seen in our service between 1989 and 2013 were selected. Sixty-one patients met the inclusion criteria. Individuals with 46,XY and 45,X/46,XY karyotypes were compared regarding genital features, gonadal histology and function, growth, and associated conditions. Twenty-five had mosaicism with a 45,X cell line (MGD), while a 46,XY karyotype (PGD) was found in 36 cases belonging to 32 families. Mutations in NR5A1, WT1, and SRY genes associated with testicular dysgenesis were found in 12 families. There were no significant differences regarding parental consanguinity, degree of external androgenization, gonadal location, histology, and function, and associated conditions. However, in the MGD group, the presence of a uterus, lower birth weight and length, and short stature were more often observed. Therefore, the use of histological features to classify PDG and MGD should be abandoned and replaced by classification based on karyotype.
- Subjects :
- Adult
Male
Embryology
medicine.medical_specialty
Adolescent
Endocrinology, Diabetes and Metabolism
030232 urology & nephrology
Uterus
Turner Syndrome
Physiology
030209 endocrinology & metabolism
Biology
Short stature
03 medical and health sciences
0302 clinical medicine
Testis
medicine
Humans
Sex organ
Disorders of sex development
Gonadal Dysgenesis, 46,XY
Infant, Newborn
Cytogenetics
Infant
Histology
Karyotype
medicine.disease
Testis determining factor
medicine.anatomical_structure
Child, Preschool
Female
medicine.symptom
Follow-Up Studies
Developmental Biology
Subjects
Details
- ISSN :
- 16615433 and 16615425
- Volume :
- 13
- Database :
- OpenAIRE
- Journal :
- Sexual Development
- Accession number :
- edsair.doi.dedup.....0a77c0d1e6fea0e966ab277d44639fd7