Publications by authors named "Yasmin Al Sayed"
Article Synopsis
- Precocious puberty occurs when secondary sexual traits appear before age 8 in girls and 9 in boys, with central precocious puberty (CPP) being a rare type linked to early hormonal activation.
- A new case of an 8-year-old girl showed a specific genetic change in the DLK1 gene, leading to advanced puberty and related health issues like obesity and insulin problems.
- The findings emphasize the need for ongoing health monitoring in children with DLK1 mutations, highlighting a trend of metabolic issues such as obesity and irregular cholesterol levels in affected individuals.
Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results in reproductive hormone deficiency and reduced potential for fertility in adult life. Discoveries of the genetic aetiology of CHH have advanced dramatically in the past 30 years, with currently over 40 genes recognised to cause or contribute to the development of this condition. The genetic complexity of CHH is further increased by the observation of di- and oligogenic, as well as classic monogenic, inheritance and incomplete penetrance.
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