Maturity onset diabetes of youth

MODY refers to a group of monogenic forms of diabetes with autosomal dominant inheritance. The causative mutations are all in genes that control production of insulin and thus MODY is characterised by relative insulinopaenia but ketosis is an unusual feature of MODY. Diagnosis can be confirmed by molecular genetic analysis. Treatment is by OHA or by insulin therapy depending on the type.

General examination

Cases of newly presenting MODY are rarely systemically unwell and there are no specific signs of MODY on general physical examination.

A thorough general and systems examination is still essential in order to detect any complications and to document the patient’s baseline condition.

Blood pressure

Is the patient hypertensive?

Hypertension is an important risk factor for many complications of diabetes including ischaemic heart disease, cerebrovascular disease, nephropathy and retinopathy.

Feet

As with all newly presenting diabetes, the feet should be examined for evidence of neuropathy as well as ulceration, vascular insufficiency and architectural abnormalities.

Retinal screening

As with all newly presenting diabetes, some form of retinal screening should be undertaken, ideally by digital retinal photography as part of an accredited retinal screening programme, but at the very least dilated fundoscopy should be performed by the examining physician.

Systems

A baseline cardiorespiratory and abdominal examination should be performed and recorded as a routine part of the new patient assessment in order to detect any unsuspected comorbidities and/or already established complications in all newly presenting cases of diabetes mellitus.

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