corticosterone methyloxidase type 2 deficiency

Corticosterone methyloxidase type 2 deficiency is a genetic endocrine disorder affecting the adrenal glands and steroid hormone synthesis. It results from pathogenic variants in the CYP11B2 gene, which plays an essential role in converting corticosterone into aldosterone. The condition is inherited in an autosomal recessive manner, meaning that an affected individual receives a mutated copy of the gene from each parent. Although precise prevalence data is not available, it is considered a rare condition typically identified through its distinctive laboratory findings.

Patients with corticosterone methyloxidase type 2 deficiency characteristically exhibit a specific pattern of electrolyte disturbances. Laboratory evaluations reveal increased circulating levels of 18-hydroxycortisone and corticosterone, along with hyponatremia, decreased aldosterone concentration, and hyperkalemia, which are present in all documented cases. These biochemical abnormalities often prompt further evaluation, and while these features are consistently observed, not all individuals experience every clinical symptom with the same severity.

This condition is caused by pathogenic variants in the CYP11B2 gene which encodes an enzyme critical for aldosterone synthesis. When the enzyme’s function is disrupted, the conversion of corticosterone to aldosterone is impaired, leading to the characteristic hormonal imbalances. It is inherited in an autosomal recessive pattern, meaning a child must inherit one mutated gene from each parent to be affected. Families are encouraged to seek genetic counseling to understand the implications for family planning and recurrence risk.

Currently, management focuses on supportive care and symptom management tailored to the individual’s needs. Treatment involves correcting electrolyte imbalances and may include interventions overseen by a multidisciplinary team, often led by an endocrinologist. Although there are no FDA-approved treatments specifically for corticosterone methyloxidase type 2 deficiency, ongoing care includes monitoring and managing the condition’s complications. Genetic counseling is recommended, and patients should discuss treatment options with their healthcare team to determine the most appropriate approach.

Outcomes for individuals with corticosterone methyloxidase type 2 deficiency vary depending on the severity of hormonal imbalances, age at diagnosis, and access to specialized care. With current standards of care, many individuals can manage symptoms effectively and lead fulfilling lives. Severity and symptoms vary widely between individuals, and outcomes described in the medical literature continue to evolve as standards of care improve. Families are advised to connect with genetic counselors and specialty clinics to receive up-to-date information and support.

A clinical trial is currently underway exploring new treatment approaches for corticosterone methyloxidase type 2 deficiency. Although research in this area is in its early stages, individuals interested in clinical trials are encouraged to search ClinicalTrials.gov or consult their healthcare team about eligibility.