3784

KCNQ1

ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS;potassium voltage-gated channel, KQT-like subfamily, member 1;KCNQ1;potassium voltage-gated channel, KQT-like subfamily, member 1

IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1|KQT-like 1|kidney and cardiac voltage dependend K+ channel|potassium voltage-gated channel subfamily KQT member 1|slow delayed rectifier channel subunit|voltage-gated potassium channe

11p15.5

protein-coding

We report on a girl with an unusual Beckwith-Wiedemann syndrome (BWS) and hemihypertrophy, who developed an adrenocortical carcinoma with atypical clinical behaviour. At 4 y of age the girls was admitted to hospital with cushingoid features, virilization, increased excretion of steroids and low serum ACTH. A right-sided adrenocortical carcinoma was removed. At age 12.5 y the cushingoid features reappeared together with a tumour in the left thigh. A CT scan of the thorax and abdomen revealed pulmonary metastasis only. Corticosteroid excretion was increased and serum ACTH level suppressed. The femoral and the pulmonary metastases were removed and histology showed adrenocortical carcinoma. Excretionof corticosteroids subsequently normalized. Meningeal and pulmonary metastases with similar histologies appeared one year later with normal hormone values. Twenty-two months after the recurrence the girl died of an intracranial metastasis. Southern blot analysis of the LITI transcript in the KvLQT1 gene in the BWS region on chromosome 11p15 revealed hypomethylation of the maternal allele. CONCLUSION: Adrenocortical carcinoma in childhood may recur years after onset and at rare sites and hormonal levels may be an insufficient indicator of small metastases.