Rabson-Mendenhall, syndrome
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(Mendenhall syndrome)
Very rare. Congenital insulin resistance, intermediate form between leprechaunism syndrome or Donohue syndrome (see this term) and type A insulin resistance. It is caused to molecular alteration of the two alleles of the INSR gene of the insulin receptor on 19p2.13 .
Early onset: intrauterine and postnatal growth retardation
Clinical presenttaion:
- hypotrophy of muscle and adipose tissue, with a protuberant abdomen
- acanthosis nigricans
- hirsutism
- dental dysplasia (early and decayed teeth), gingival hyperplasia
- acromegaloid type facies with prognathism, and occasionally, micrognathia
- pineal gland hyperplasia
- hyperplasia of the external genitalia (clitoridomegaly, polycystic ovary syndrome)
- often associated with kidney problems: nephrocalcinosis, hydronephrosis, nephromegaly, lithiasis, 'sponge kidney' (Cacchi-Ricci disease; see this topic)
- biology: hypoglycemia before meals, episodes of severe ketoacidosis, postprandial hyperglycemia with hyperinsulinism
Difficult treatment: high doses of insulin sometimes associated with metformin and/or glitazone; in some cases, recombinant IGF1 (insulin-like growth factor 1) or metreleptine are used.
Anesthetic implications:
monitoring of blood glucose, check renal function, short stature, muscular hypotrophy
References :
- Chong YH, Taylor BJ, Wheeler BJ.
Renal manifestations of severe Rabson-Mendenhall syndrome: a case report.
Journal of Diabetes & Metabolic Disorders 2013; 12:7
- Atray A, Jahvani S, Thai K, Hiremath P, Anjana RM et al.
Rabson-Mendenhall syndrome: a case report.
J Diabetol 2013; 2:4
Updated: May 2022