Late-onset adrenal hyperplasia in hirsutism

Area of Science:

• Endocrinology
• Genetics
• Immunology

Background:

• Hirsutism is a common condition in women, with late-onset adrenal hyperplasia (LOAH) being a potential underlying cause.
• The genetic and immunological factors contributing to LOAH and its variable clinical presentation require further investigation.

Purpose of the Study:

• To determine the incidence of LOAH as a cause of hirsutism.
• To investigate the association between LOAH and the major histocompatibility complex (MHC).
• To explore the factors influencing the clinical expression of LOAH.

Main Methods:

• Studied 400 women with hirsutism; diagnosed LOAH based on 17-hydroxyprogesterone levels and ACTH stimulation.
• Assessed plasma androgen levels (androstenedione) and 5 alpha-reductase activity.
• Genotyped 24 patients and 84 family members for HLA antigens; measured plasma hormones in family members.

Main Results:

• Twenty-four women (6%) were diagnosed with LOAH.
• A strong correlation was found between LOAH and HLA antigens B14 and Aw33.
• HLA-identical siblings of patients showed similar hormonal profiles but lacked hirsutism, suggesting androgen sensitivity plays a key role.

Conclusions:

• LOAH is associated with specific HLA antigens, indicating a link to the major histocompatibility complex.
• The development of hirsutism in LOAH patients is influenced by individual skin sensitivity to androgens, not solely by hormone levels.