A CLINICAL CASE OF LARON SYNDROME IN THREE SIBLINGS
Laron syndrome (Laron dwarfism) is a rare genetic disease with an autosomal recessive type of inheritance caused by defects in the somatotropic hormone receptor gene (GHR gene), leading to insensitivity of peripheral tissues to growth hormone. Typical manifestations include low height, "doll fa...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
The Publishing House Medicine and Enlightenment
2022-11-01
|
| Series: | Мать и дитя в Кузбассе |
| Subjects: | |
| Online Access: | https://mednauki.ru/index.php/MD/article/view/744 |
| Summary: | Laron syndrome (Laron dwarfism) is a rare genetic disease with an autosomal recessive type of inheritance caused by defects in the somatotropic hormone receptor gene (GHR gene), leading to insensitivity of peripheral tissues to growth hormone. Typical manifestations include low height, "doll face", overweight. Currently, the number of patients worldwide is about 350. This article describes a case of Laron syndrome in three children from the same family. |
|---|---|
| ISSN: | 1991-010X 2542-0968 |