Rabson-Mendenhall syndrome: two case reports and a brief review of the literature

Bathi, Renuka J; Parveen, Sameena; Mutalik, Sunil; Rao, R. Prabhakara

doi:10.1007/s10266-009-0106-7

Cited by 16 publications

(25 citation statements)

References 35 publications

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“…2 The defects in this insulin receptoropathy are compound heterozygous or homozygous INSR mutations. 2 The defects in this insulin receptoropathy are compound heterozygous or homozygous INSR mutations.…”

Section: Discussionmentioning

confidence: 99%

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Rabson–Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation

et al. 2013

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Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder characterized by extreme insulin resistance and certain characteristic phenotypic features. The primary defect lies in the insulin receptor and involves biallelic mutations that lead to a loss of function through various postulated defects. We present a 9-year-old female patient with RMS complicated by multiple cerebral infarcts, in whom genetic analysis revealed a novel insulin receptor mutation.

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Section: Discussionmentioning

confidence: 99%

“…1,2 The primary defect lies in the insulin receptor and involves biallelic mutations that lead to a loss of function through various postulated defects. 1,2 The primary defect lies in the insulin receptor and involves biallelic mutations that lead to a loss of function through various postulated defects.…”

Section: Introductionmentioning

confidence: 99%

Rabson–Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation

et al. 2013

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“…Unfortunately no mutational analysis was done, and a request for investigation to ascertain any feature of MSK was declined [3]. Other case reports of RMS have either not described any renal features, or only isolated associations, such as medullary nephrocalcinosis [9] or palpable kidneys [10].…”

Section: Discussionmentioning

confidence: 99%

“…Cutaneous findings include hypertrichosis, skin tags, lichenified skin, and onychauxis. A protuberant abdomen is often described [2,3]. Early published cases commonly reported pineal dysfunction and hypertrophy on autopsy [4,5].…”

Section: Introductionmentioning

confidence: 99%

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Renal manifestations of severe Rabson-Mendenhall syndrome: a case report

Chong

Taylor

Wheeler

2013

J Diabetes Metab Disord

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IntroductionRabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies.Case presentationWe report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney.ConclusionThis is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance.

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A comprehensive analysis of polymorphic variants in steroid hormone and insulin‐like growth factor‐1 metabolism and risk of in situ breast cancer: Results from the Breast and Prostate Cancer Cohort Consortium

Barrdahl

Canzian

Gaudet

et al. 2017

Intl Journal of Cancer

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We assessed the association between 1,414 single nucleotide polymorphisms (SNPs) in genes involved in synthesis and metabolism of steroid hormones and insulin-like growth factor 1, and risk of breast cancer in situ (BCIS), with the aim of determining whether any of these were disease specific. This was carried out using 1,062 BCIS cases and 10,126 controls as well as 6,113 invasive breast cancer cases from the Breast and Prostate Cancer Cohort Consortium (BPC3). Three SNPs showed at least one nominally significant association in homozygous minor versus homozygous major models. ACVR2A-rs2382112 (OR = 3.05, 95%CI = 1.72-5.44, P = 1.47 × 10 ), MAST2-rs12124649 (OR = 1.73, 95% CI =1.18-2.54, P = 5.24 × 10 ), and INSR-rs10500204 (OR = 1.96, 95% CI = 1.44-2.67, P =1.68 × 10 ) were associated with increased risk of BCIS; however, only the latter association was significant after correcting for multiple testing. Furthermore, INSR-rs10500204 was more strongly associated with the risk of BCIS than invasive disease in case-only analyses using the homozygous minor versus homozygous major model (OR = 1.78, 95% CI = 1.30-2.44, P = 3.23 × 10 ). The SNP INSR-rs10500204 is located in an intron of the INSR gene and is likely to affect binding of the promyelocytic leukemia (PML) protein. The PML gene is known as a tumor suppressor and growth regulator in cancer. However, it is not clear on what pathway the A-allele of rs10500204 could operate to influence the binding of the protein. Hence, functional studies are warranted to investigate this further.

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Rabson-Mendenhall syndrome: two case reports and a brief review of the literature

Cited by 16 publications

References 35 publications

Rabson–Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation

Rabson–Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation

Renal manifestations of severe Rabson-Mendenhall syndrome: a case report

A comprehensive analysis of polymorphic variants in steroid hormone and insulin‐like growth factor‐1 metabolism and risk of in situ breast cancer: Results from the Breast and Prostate Cancer Cohort Consortium

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