Virtual Conference
Yuan Ding

Yuan Ding

Capital Medical University, China

Title: Clinical and HSD11B2 gene analysis of a patient with apparent mineralocorticoid excess


Objective: Here we studied the disease course and prognosis of AME through a congenital hypertension case who was diagnosed as AME after 11 years. Method Clinical information of the patient was collected and the relevant literature was reviewed.

Result: The 12-year-old female patient with a 11-year-history of hypertension and hypokalemia and a 1-month-history of poor blood pressure control was admitted to our hospital. The blood pressure of the patient was poorly controlled fluctuating between 140-180/100-110mmHg and she went to the doctor many times with fatigue and seizures. The patient was a term-infant with 1.55 kg and at present, the intelligence of the patient is normal but the physical development is retarded and fatigue is frequently presented.

Laboratory findings: Multiple blood electrolysis tests suggested hypokalemia and metabolic alkalosis. At supine position, the patient had angiotensin I (37°C) of 0.85ng/ml, angiotensin I (4°C) of 0.27ng/ml, plasma renin activity (PRA) of 0.58ng /ml/hr, aldosterone (ALD) of 64.01pg/ml, and aldosterone/renin ratio (ARR) of 11.04, while at stand position, she had angiotensin I (37?) of 0.88ng/ml, angiotensin I (4 ?) of 0.26ng/ml, PRA of 0.62ng/ml/hr, ALD of 51.56pg/ml and ARR of 8.32. Urine aldosterone was normal with 7.07ug/day (reference : 3-15 ug/day). Genetic result revealed a homozygous mutation c.605T>C (p.V217A) in HSD11B2, the parents are both heterozygous carrier. This mutation is a novel pathogenic mutation and has not been reported.

Conclusion: We reported a Chinese infantile hypertensive AME patient with a novel homozygous mutation in HSD11B2. This also increases the genotype and phenotype profile of AME. Early genetic testing can facilitate early diagnosis, standardize treatment and avoid target organ damage.


Yuan Ding has completed her Ph.D. at the age of 29 years from Peking University, China. She is the attending of department of endocrinology, genetics and metabolism, Beijing Children's Hospital, Capital Medical University.