Bonnevie-Ullrich syndrome

Bonnevie-Ullrich syndrome, also known as Turner syndrome, is a chromosomal disorder that affects development in females. It is characterized by a partial or complete loss of one of the X chromosomes. The syndrome was first described independently by Norwegian geneticist Kristine Bonnevie and German physician Otto Ullrich, leading to the dual eponym.

Symptoms and Signs

The clinical presentation of Bonnevie-Ullrich syndrome can vary significantly among affected individuals. Common symptoms include:

• Short stature
• Lymphedema (swelling) of the hands and feet
• Broad chest and widely spaced nipples
• Low hairline at the back of the neck
• Gonadal dysgenesis (underdeveloped ovaries), leading to infertility
• Heart defects
• Kidney abnormalities
• Hearing loss

Causes

Bonnevie-Ullrich syndrome is caused by a chromosomal abnormality involving the X chromosome. In most cases, affected individuals have only one complete copy of the X chromosome instead of two. Other cases may involve a partial deletion or rearrangement of the X chromosome. The exact mechanism by which these chromosomal changes lead to the syndrome's features is not fully understood.

Diagnosis

Diagnosis of Bonnevie-Ullrich syndrome is based on clinical evaluation and genetic testing. Prenatal testing can identify chromosomal abnormalities related to the syndrome. After birth, a karyotype analysis can confirm the diagnosis by revealing the presence of a single X chromosome or other X chromosome abnormalities.

Treatment

There is no cure for Bonnevie-Ullrich syndrome, but many of the symptoms can be treated. Growth hormone therapy may be administered to address short stature. Hormone replacement therapy (HRT) is often necessary to induce puberty and maintain secondary sexual characteristics. Regular monitoring and treatment of heart, kidney, and thyroid problems are also important. Psychological support and counseling can help individuals cope with the social and emotional challenges associated with the syndrome.

Prognosis

With appropriate medical care and support, individuals with Bonnevie-Ullrich syndrome can lead relatively normal lives. However, they typically require ongoing treatment and monitoring for associated health issues.

Epidemiology

Bonnevie-Ullrich syndrome affects approximately 1 in 2,500 to 1 in 3,000 female births worldwide. It is one of the most common chromosomal disorders in females.

See Also

• Chromosome
• X Chromosome
• Gonadal dysgenesis
• Lymphedema
• Growth hormone therapy
• Hormone replacement therapy

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