SNP Shot: Genomic Insights

Cushing disease arises from having too much cortisol, a hormone that leads to many different symptoms. While it typically affects adults aged 20 to 50, children can also develop it. Often, the first noticeable symptom is weight gain, particularly around the abdomen and face. People with this condition may develop stretch marks (striae) on their thighs and stomach and tend to bruise easily. A characteristic sign can be a fatty deposit on the upper back, sometimes called a "buffalo hump." Muscle weakness, extreme fatigue, and weakening bones that break easily (osteoporosis) are also common. Furthermore, the immune system is compromised, making individuals more susceptible to infections. Cushing disease can also trigger mood swings, including anxiety, irritability, and depression, and impair concentration and memory. The risk of high blood pressure (hypertension) and diabetes is elevated. In women, Cushing disease may lead to irregular periods and excessive hair growth (hirsutism) on the face, abdomen, and legs. Men may experience erectile dysfunction. Children with Cushing disease often experience slowed growth.

Inheritance:

In most instances, Cushing disease occurs randomly in individuals without a family history of the condition (sporadic). In rare cases, it has been observed in multiple family members, but the inheritance pattern isn't well-defined. Syndromes that include Cushing disease as a symptom can have differing inheritance patterns. The majority of these syndromes follow an autosomal dominant inheritance pattern, meaning that only one copy of a mutated gene in each cell is enough to cause the disorder.