Rabson-Mendenhall, syndrome

[MIM 262 190]

(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