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Medicine Endocrinology 1ea41bf0

Patient presents with fasting sugar as 167mg/dl, skin pigmentation and hypogonadism. His liver enzymes showed SGOT as 678 and SGPT as 692. Most probable diagnosis is?

A
Alpha 1 antitrypsin deficiency
B
Wilson's disease
C
Hemochromatosis
D
Glycogen storage disease
High-Yield Explanation
Hemochromstosis clinical features Initial symptoms are often nonspecific and include lethargy, ahralgia, skin pigmentation, loss of libido, and features of diabetes mellitus. Hepatomegaly, increased pigmentation, spider angiomas, splenomegaly, ahropathy, ascites, cardiac arrhythmias, congestive hea failure, Excessive skin pigmentation is present in patients with advanced disease. The characteristic metallic or slate-gray hue is sometimes referred to as bronzing and results from increased melanin and iron in the dermis. Pigmentation usually is diffuse and generalized . Diabetes mellitus occurs in ~65% of patients with advanced disease and is more likely to develop in those with a family history of diabetes, suggesting that direct damage to the pancreatic islets by iron deposition occurs in combination with other risk factors . The liver is usually the first organ to be affected, and hepatomegaly is present in >95% of symptomatic patients. Ref - harrisons 20e p2980

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