A Case of Early Diagnosis of Turner Syndrome in a Neonate
| Autor: | Vikram Kumar, Sheharyar Khan, Sana Niaz, Syed Rehan Ali, Erum Choudry, Fatima Hemani |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty Monosomy business.industry Cardiology General Engineering medicine.disease Short stature Hypoplasia karyotype short stature Lymphedema Turner syndrome turner syndrome medicine Obstetrics/Gynecology hypogonadism Webbed neck medicine.symptom Live birth business sexual infantilism X chromosome |
| Zdroj: | Cureus |
| ISSN: | 2168-8184 |
| DOI: | 10.7759/cureus.16733 |
| Popis: | Turner syndrome (TS), or Bonnevie-Ullrich syndrome, also known as congenital ovarian hypoplasia syndrome, is the most common sex chromosome abnormality in females in approximately 1 in 2000 live birth. It occurs when the X chromosome is partially or completely missing in females caused by monosomy or structural abnormalities of the X chromosome. It is mainly diagnosed in late childhood or adolescent age and rarely identified during the neonatal period. It is characterized by short stature, webbed neck, lymphedema of extremities, widely spaced-out nipples, and cubital valgus. Early diagnosis of TS allows for appropriate and timely initiation of therapy with comprehensive care. We report a case of a neonate presented with the complaint of edema of feet since birth and syndromic features. TS was diagnosed by the chromosomal analysis, which demonstrated a gene karyotype of 46.X,i(X)(q10){20}. |
| Databáze: | OpenAIRE |
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