Case Report: The importance of genetic counseling for families with hyperinsulinism
Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients. Understanding the genetic etiology also allows accurate genetic counseling to be provided, illustrated by two families following...
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| Format: | Article |
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1520871/full |
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| author | Victoria R. Sanders Victoria R. Sanders Katherine Lord Katherine Lord Katherine Lord Winnie M. Sigal Winnie M. Sigal Winnie M. Sigal Heather McKnight Heather McKnight N. Scott Adzick N. Scott Adzick Lisa J. States Lisa J. States Tricia Bhatti Tricia Bhatti Diva D. De Leon Diva D. De Leon Diva D. De Leon |
| author_facet | Victoria R. Sanders Victoria R. Sanders Katherine Lord Katherine Lord Katherine Lord Winnie M. Sigal Winnie M. Sigal Winnie M. Sigal Heather McKnight Heather McKnight N. Scott Adzick N. Scott Adzick Lisa J. States Lisa J. States Tricia Bhatti Tricia Bhatti Diva D. De Leon Diva D. De Leon Diva D. De Leon |
| author_sort | Victoria R. Sanders |
| collection | DOAJ |
| description | Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients. Understanding the genetic etiology also allows accurate genetic counseling to be provided, illustrated by two families following a diagnosis of HI. A newborn had hypoglycemia at birth and was diagnosed with focal HI due to a paternally inherited recessive ABCC8 variant. Years later the paternal half-sibling was diagnosed with HI. Testing revealed compound heterozygous ABCC8 variants, consistent with diffuse disease. Following testing, the father's partner(s) should have been offered carrier testing. However, the parents were unaware that future children could be at increased risk of HI. The second family's son was diagnosed with HI in infancy and genetic testing identified a heterozygous recessive ABCC8 variant. Parental testing revealed both parents carried this variant. Focal HI was subsequently confirmed. This family's 1/4 chance to have a child with diffuse HI was significantly higher than the 1/540 chance their child could have focal HI. Understanding the etiology of a patient's HI not only allows for appropriate medical management but has important reproductive implications for the family. Genetic counseling is an important component of the multidisciplinary care received by every family with HI. |
| format | Article |
| id | doaj-art-087710617e6b4c139cb1bb3f359bdfa9 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-087710617e6b4c139cb1bb3f359bdfa92025-01-17T05:10:42ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-01-011210.3389/fped.2024.15208711520871Case Report: The importance of genetic counseling for families with hyperinsulinismVictoria R. Sanders0Victoria R. Sanders1Katherine Lord2Katherine Lord3Katherine Lord4Winnie M. Sigal5Winnie M. Sigal6Winnie M. Sigal7Heather McKnight8Heather McKnight9N. Scott Adzick10N. Scott Adzick11Lisa J. States12Lisa J. States13Tricia Bhatti14Tricia Bhatti15Diva D. De Leon16Diva D. De Leon17Diva D. De Leon18Division of Endocrinology, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesCongenital Hyperinsulinism Center, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesDivision of Endocrinology, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesCongenital Hyperinsulinism Center, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesDepartment of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United StatesDivision of Endocrinology, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesCongenital Hyperinsulinism Center, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesDepartment of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United StatesDivision of Endocrinology, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesCongenital Hyperinsulinism Center, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesCongenital Hyperinsulinism Center, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesDepartment of Surgery, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United StatesCongenital Hyperinsulinism Center, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesDepartment of Radiology, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United StatesCongenital Hyperinsulinism Center, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United StatesDivision of Endocrinology, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesCongenital Hyperinsulinism Center, Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesDepartment of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United StatesCongenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients. Understanding the genetic etiology also allows accurate genetic counseling to be provided, illustrated by two families following a diagnosis of HI. A newborn had hypoglycemia at birth and was diagnosed with focal HI due to a paternally inherited recessive ABCC8 variant. Years later the paternal half-sibling was diagnosed with HI. Testing revealed compound heterozygous ABCC8 variants, consistent with diffuse disease. Following testing, the father's partner(s) should have been offered carrier testing. However, the parents were unaware that future children could be at increased risk of HI. The second family's son was diagnosed with HI in infancy and genetic testing identified a heterozygous recessive ABCC8 variant. Parental testing revealed both parents carried this variant. Focal HI was subsequently confirmed. This family's 1/4 chance to have a child with diffuse HI was significantly higher than the 1/540 chance their child could have focal HI. Understanding the etiology of a patient's HI not only allows for appropriate medical management but has important reproductive implications for the family. Genetic counseling is an important component of the multidisciplinary care received by every family with HI.https://www.frontiersin.org/articles/10.3389/fped.2024.1520871/fullhyperinsulinismgenetic counselingcarrier testingABCC8recurrence risk |
| spellingShingle | Victoria R. Sanders Victoria R. Sanders Katherine Lord Katherine Lord Katherine Lord Winnie M. Sigal Winnie M. Sigal Winnie M. Sigal Heather McKnight Heather McKnight N. Scott Adzick N. Scott Adzick Lisa J. States Lisa J. States Tricia Bhatti Tricia Bhatti Diva D. De Leon Diva D. De Leon Diva D. De Leon Case Report: The importance of genetic counseling for families with hyperinsulinism Frontiers in Pediatrics hyperinsulinism genetic counseling carrier testing ABCC8 recurrence risk |
| title | Case Report: The importance of genetic counseling for families with hyperinsulinism |
| title_full | Case Report: The importance of genetic counseling for families with hyperinsulinism |
| title_fullStr | Case Report: The importance of genetic counseling for families with hyperinsulinism |
| title_full_unstemmed | Case Report: The importance of genetic counseling for families with hyperinsulinism |
| title_short | Case Report: The importance of genetic counseling for families with hyperinsulinism |
| title_sort | case report the importance of genetic counseling for families with hyperinsulinism |
| topic | hyperinsulinism genetic counseling carrier testing ABCC8 recurrence risk |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1520871/full |
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