Familial Turner’s Syndrome

Definition

Familial Turner’s Syndrome, also known as familial gonadal dysgenesis, is a genetic disorder that affects females. It is considered a variant of Turner’s syndrome.

Cause

Familial Turner’s Syndrome is caused by a mutation in one of the sex chromosomes (usually the X chromosome) that leads to the absence or partial deletion of one of the X chromosomes in affected individuals.

Inheritance

The condition is inherited in an autosomal dominant manner, which means that a mutation in one copy of the responsible gene is sufficient to cause the disorder.

Symptoms

Common symptoms of Familial Turner’s Syndrome include:

• Short stature
• Delayed or absent puberty
• Infertility or reduced fertility
• Cardiac abnormalities
• Kidney abnormalities

Diagnosis

The diagnosis of Familial Turner’s Syndrome is usually made based on clinical features and genetic testing, such as karyotyping or fluorescent in situ hybridization (FISH), which can detect chromosomal abnormalities.

Treatment

Treatment for Familial Turner’s Syndrome typically involves hormone replacement therapy to induce puberty and facilitate normal development. Additional interventions may be necessary to address specific manifestations of the disorder, such as cardiac or kidney abnormalities.