Evidence map›Paper›PMID 39401123›Full record

ArticleJournal of pediatric endocrinology & metabolism : JPEM2024

Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital.

Raiz A Misgar, Ajaz Qadir, Shariq Rashid Masoodi, Shruthi Jayaram, Ankit Chhabra, Shantala Jayaram, Venkatesan Radha, Sundarmoorthy Gopi, Viswanathan Mohan, Sekar Kanthimathi

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Article in Journal of pediatric endocrinology & metabolism : JPEM, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Raiz A MisgarDepartment of Endocrinology, 29078 Sher-i-Kashmir Institute of Medical Sciences (SKIMS) , Srinagar, India.
Ajaz QadirDepartment of Endocrinology, 29078 Sher-i-Kashmir Institute of Medical Sciences (SKIMS) , Srinagar, India.
Shariq Rashid MasoodiDepartment of Endocrinology, 29078 Sher-i-Kashmir Institute of Medical Sciences (SKIMS) , Srinagar, India.
Shruthi JayaramDepartment of Endocrinology, Rajarajeshwari Medical College and Hospital, Bangalore, India.
Ankit ChhabraDepartment of Endocrinology, 29078 Sher-i-Kashmir Institute of Medical Sciences (SKIMS) , Srinagar, India.
Shantala JayaramFellowship in Pediatric Endocrinology, Pediatric Endocrinologist at Sakra World Hospital, Bangalore, India.
Venkatesan RadhaDepartment of Molecular Genetics, Madras Diabetes Research Foundation, ICMR Centre for Advanced Research on Diabetes, Chennai, India.
Sundarmoorthy GopiDepartment of Molecular Genetics, Madras Diabetes Research Foundation, ICMR Centre for Advanced Research on Diabetes, Chennai, India.
Viswanathan MohanDepartment of Diabetology, Madras Diabetes Research Foundation & Dr Mohan's Diabetes Specialities Centre, Chennai, India.
Sekar KanthimathiDepartment of Molecular Genetics, Madras Diabetes Research Foundation, ICMR Centre for Advanced Research on Diabetes, Chennai, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo study the clinical and genotypic spectrum of patients with

methodsThis study included four patients from the Department of Endocrinology at Sher-i-Kashmir Institute of Medical Sciences Srinagar with a strong clinical suspicion of MODY 5. Genetic analysis, including a monogenic gene panel comprising 78 genes associated with MODY and other similar forms of monogenic diabetes, was done. Dosage analysis of

resultsThe mean age of patients was 22.25 years with a male-to-female ratio of 3:1. Associated phenotypic features included neurodevelopmental disorder in all four patients, insulin resistance in two patients (2/4) and alopecia in three patients (3/4). One patient had clinical and biochemical hyperandrogenism. All patients had renal malformations, and one patient had a Mullerian anomaly. Family history was present in 1 patient. All patients had pancreatic abnormalities, the most common type being dorsal agenesis of the pancreas (3/4), followed by annular pancreas (1/4). All patients had a genetic deletion of the gene

conclusionsIt is imperative to maintain a high index of suspicion for MODY 5 in patients presenting with renal anomalies and diabetes, even in the absence of a family history. Early identification allows for screening family members and ensures a comprehensive approach to identifying and managing other abnormalities in these patients.

Indexed as

Chromosomes, Human, Pair 17Diabetes Mellitus, Type 2Hepatocyte Nuclear Factor 1-betaPhenotypeTertiary Care CentersAdolescentAdultChildChromosome DeletionFemaleHumansIndiaMalePrognosisYoung AdultHepatocyte Nuclear Factor 1-betaHNF1B protein, human17q12 deletion syndromediabetes and renal anomaliesgenetic deletionMODY 5

Identifiers

PMID39401123

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.