A 45-year-old lady presents with complaints of a progressive increase in the size of hands and feet and shoe size for past 5 years. The family members have noticed a change in her facial appearance in the form of coarsening of features and her voice has become sonorous. She also has complaints of frequent headaches for past 1 year. She complains of amenorrhea for past 5 years. She also has complaints of joint pains for past 3 years which have become more severe for the past 3 months. She is hypertensive for past 1 year and complaints of grade 2 dyspnea on exertion and her hypertension is controlled on 10 mg of cilnidipine and 40 mg of telmisartan. She is not a known diabetic and has checked her random sugars 1 week back which was normal. She is not on any other medications presently (Fig. 1.1).
What is new in the genetics of acromegaly?
A recurrent activating GPR101 mutation (p.E308D) has been shown in 11 of 248 tumor DNA samples from patients with isolated acromegaly. Of these patients, 3 carried a germline GPR101 mutation. This might suggest a higher prevalence of germline GPR101 mutation among patients with sporadic acromegaly.
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