Laron syndrome in three female siblings with the development of subclinical hypothyroidism and dyslipidemia in one case: first report of a Syrian family
| Autor: | Kheria Hijazia, Ahmad Chreitah, Leen Jamel Doya |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty omcrep/700 dwarfism Levothyroxine Dwarfism Case Report Disease Microbiology Short stature medicine Laron syndrome Index case Subclinical infection business.industry dyslipidemia medicine.disease Infectious Diseases omcrep/1700 Parasitology hypothyroidism medicine.symptom AcademicSubjects/MED00010 business Dyslipidemia medicine.drug |
| Zdroj: | Oxford Medical Case Reports |
| ISSN: | 2053-8855 |
| DOI: | 10.1093/omcr/omab079 |
| Popis: | Laron syndrome (LS) is a rare autosomal recessive disorder characterized by dwarfism and typical facial phenotype. This report is the first to present three cases of Laron syndrome affecting three female siblings from Syria. The index case presented at age of 8.5 years with severe short stature: low level of Insulin-like growth factor 1 (IGF-1), elevated levels of fasting and post-stimulation growth hormone (GH), consistent with the diagnosis of Laron syndrome. At the age of 9.5 years, she developed non-autoimmune subclinical hypothyroidism treated with Levothyroxine, then she developed dyslipidemia at the age of 11.3 years. Later, we identified two female siblings of the patient with Laron syndrome. Laron syndrome is a rare genetic disease, reporting of new cases of this rare syndrome must encourage pediatricians to develop high clinical suspicion if faced with patients with very short stature and typical facial features. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|