Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Rabson-Mendenhall syndrome

Rabson-Mendenhall syndrome is an autosomal recessive disorder caused by a loss-of-function mutation of the insulin receptor. An insulin resistent diabetes mellitus ensues further characterized by hyperinsulinemia and various somatic abnormalities. There are striking similarities between Rabson-Mendenhall and Donohue syndromes. The latter being published shortly before.

Historical Aspects

The disorder was first described by Rabson and Mendenhall in 1956. The found a family of 3 affected children who later died of ketoacidosis.[Error: Macro 'ref' doesn't exist]

Systematic

Neonatal diabetes mellitus
Leprechaunism
Mitchell-Riley syndrome
Neonatal diabetes mellitus with congenital hypothyroidism
Pancreatogenic diabetes
Permanent neonatal diabetes mellitus
Rabson-Mendenhall syndrome
INSR
Renal cysts and diabetes (RCAD)
Transient neonatal diabetes mellitus 1
Transient neonatal diabetes mellitus 2
Transient neonatal diabetes mellitus 3
X-linked immunodysregulation, polyendocrinopathy, and enteropathy

References:

1.

RABSON SM et al. (1956) Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases.

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2.

Kadowaki T et al. (1990) Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding.

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3.

Accili D et al. (1989) A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes.

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4.

Moncada VY et al. (1986) Insulin-receptor biosynthesis in cultured lymphocytes from an insulin-resistant patient (Rabson-Mendenhall syndrome). Evidence for defect before insertion of receptor into plasma membrane.

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5.

Barnes ND et al. (1974) Insulin resistance, skin changes, and virilization: a recessively inherited syndrome possibly due to pineal gland dysfunction.

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6.

Taylor SI et al. (1983) Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts.

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7.

West RJ et al. (1975) Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia.

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8.

Puig-Domingo M et al. (1992) Brief report: melatonin-related hypogonadotropic hypogonadism.

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9.

Cochran E et al. (2004) Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome.

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10.

de Leiva A et al. (1990) Episodic nyctohemeral secretion of melatonin in adult humans: lack of relation with LH pulsatile pattern.

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11.

Takata Y et al. (1986) A primary defect in insulin receptor in a young male patient with insulin resistance.

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12.

Rittey CD et al. (1988) Melatonin state in Mendenhall's syndrome.

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13.

West RJ et al. (1980) Familial insulin resistance with pineal hyperplasia: metabolic studies and effect of hypophysectomy.

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14.

Lewy AJ et al. (1980) Light suppresses melatonin secretion in humans.

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15.

Orphanet article

Orphanet ID 769 [^]
16.

OMIM.ORG article

Omim 262190 [^]
17.

Wikipedia article

Wikipedia EN (Rabson–Mendenhall_syndrome) [^]
Update: April 29, 2019