Familial Turner syndrome: the importance of information
| Autor: | Brígida Robalo, Maria de Lurdes Sampaio, Isabel Periquito, Joana Morgado, Catarina Carrusca, Carla Pereira |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Pediatrics
medicine.medical_specialty Endocrinology Diabetes and Metabolism media_common.quotation_subject Turner Syndrome 030209 endocrinology & metabolism Fertility Translocation Genetic 03 medical and health sciences 0302 clinical medicine Endocrinology Pregnancy Turner syndrome Medicine Humans Child media_common Chromosomes Human X 030219 obstetrics & reproductive medicine business.industry Mosaicism Incidence (epidemiology) Genetic disorder Karyotype Middle Aged medicine.disease Prognosis Growth hormone treatment Child Preschool Pediatrics Perinatology and Child Health Noonan syndrome Female Chromosome Deletion business |
| Zdroj: | Journal of pediatric endocrinologymetabolism : JPEM. 29(5) |
| ISSN: | 2191-0251 |
| Popis: | Turner syndrome is a common genetic disorder with an incidence of 1 in 2500 live births. Spontaneous fertility is rare in such patients and is most likely in women with mosaicism or very distal Xp deletions. The authors report an unusual case of familial Turner syndrome in a woman with mosaicism 45,X/46,Xdel(Xp) karyotype with three documented spontaneous pregnancies, which resulted in two daughters with 46,Xdel(X)(p11.4)mat karyotype and a healthy son. The mother was first diagnosed by the age of 11 and did not receive contraceptive medication, due to information that she would be infertile. Both daughters were referred to an endocrinology unit and are now under growth hormone treatment, and have been growing in the 3rd percentile. This family illustrates the complexity and difficulties in counseling, follow-up and treatment in Turner syndrome, namely referring to a tertiary center, fertility and treatment such as growth hormone and hormonal replacement, due to the heterogeneity of the clinical spectrum. |
| Databáze: | OpenAIRE |
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