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A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.

ABSTRACT: Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge, and growth retardation. A 5-year-old female patient was referred due to acanthosis nigricans and generalized lanugo. On her physical examination, severe acanthosis nigricans of the neck, axillae, the external genitalia and antecubital regions, generalized lanugo, mildly decreased subcutaneous fat, dysmorphic facial features, and polydactyly on her left hand were noted. Insulin resistance and impaired glucose tolerance were found. Sequence analysis of the INSR in the patient revealed c.3529+5G>A mutation in homozygous state. RMS should be suspected in a patient with characteristic physical features and insulin resistance.

SUBMITTER: Tuhan H

PROVIDER: S-EPMC5785646 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.

Tuhan Hale H Ceylaner Serdar S Nalbantoğlu Özlem Ö Acar Sezer S Abacı Ayhan A Böber Ece E Demir Korcan K

Journal of clinical research in pediatric endocrinology 20170630 4

Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge, and growth retardation. A 5-year-old female patient was referred due to acanthosis nigricans and generalized lanugo. On her physical examination, severe acanthosis nigricans of the neck, axillae, the external genitalia and antecubital regio ...[more]

PMID: 28663160

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Project description:Importance:Pacific Islanders have among the highest rates of obesity and type 2 diabetes in the world. Targeting children is critical for primary prevention. Objectives:To prevent young child overweight and obesity and to improve health in the US-Affiliated Pacific region via the Children's Healthy Living Program. Design, Setting, and Participants:In this multijurisdictional, multilevel, multicomponent community randomized clinical trial, where all evaluable children were analyzed according to the random assignment of their community, hierarchical difference-in-difference models accounted for the community randomization, community clustering with jurisdictions, and these models were adjusted for the age and sex distribution of the community. The setting was 27 communities in 5 jurisdictions (Alaska, American Samoa, Commonwealth of the Northern Mariana Islands, Guam, and Hawaii). Participants were 4329 children (time 1) and 4042 children (time 2) aged 2 to 8 years in 27 selected communities from October 7, 2012, to October 25, 2015. Data analysis was completed in June 2018. Interventions:Nineteen activities addressed policy, environment, messaging, training, and 6 target behaviors (sleep time, screen time, physical activity, fruits and vegetables, water, and sugar-sweetened beverages). Main Outcomes and Measures:Primary outcomes were body size measurements. Secondary outcomes were acanthosis nigricans, sleep quality and duration, dietary intake, physical activity, and other questionnaire reponses. Results:The study included 27 communities and 8371 evaluable children (mean [SD] age, 5.4 [1.8] years; 50.9% male [n?=?4264]). Data analysis included 952 children in the intervention group and 930 children in the control group aged 2 to 5 years at time 1; 825 children in the intervention group and 735 children in the control group aged 2 to 5 years at time 2; 565 children in the intervention group and 561 children in the control group aged 6 to 8 years at time 1; and 517 children in the intervention group and 560 children in the control group aged 6 to 8 years at time 2. The intervention communities showed significant improvement compared with control communities in overweight and obesity prevalence (effect size [d]?=?-3.95%; 95% CI, -7.47% to -0.43%), waist circumference (d?=?-0.71 cm; 95% CI, -1.37 to -0.05 cm), and acanthosis nigricans prevalence (d?=?-2.28%; 95% CI, -2.77% to -1.57%). Age and sex subgroup analysis revealed greater difference among the intervention communities in acanthosis nigricans prevalence in the group aged 2 to 5 years (-3.99%) vs the group aged 6 to 8 years (-3.40%), and the interaction was significant (d?=?0.59%, P?<?.001), as well as the smaller difference in the group aged 2 to 5 years (-0.10%) vs the group aged 6 to 8 years (-1.07%) in screen time (d?=?-0.97 hour per day, P?=?.01). Conclusions and Relevance:The intervention reduced the prevalence of young child overweight and obesity and acanthosis nigricans. Comprehensive, effective, and sustainable interventions are needed to improve child health in the US-Affiliated Pacific region. Trial Registration:ClinicalTrials.gov Identifier: NCT01881373.

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A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.

Publications

A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.

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