Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)

Cappella, Michela; Graziani, Vanna; Pragliola, Antonella; Hussain, Khalid; Muratori, Claudia; Marchetti, Federico

doi:10.1155/2015/561974

Cited by 10 publications

(10 citation statements)

References 17 publications

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“…A total of six girls with Turner Syndrome and congenital hyperinsulinism have been previously reported (Table 3) [7–11]. Three of these cases first presented as neonates.…”

Section: Discussionmentioning

confidence: 99%

“…In addition to classic phenotypic features, such as short stature and infertility, Turner Syndrome is associated with an increased risk of autoimmune thyroiditis and glucose intolerance and diabetes in adulthood [1–4]; the latter has been ascribed to impaired insulin secretion caused by haploinsufficiency of unknown genes on the X chromosome [5, 6]. In addition to these acquired endocrine disorders, several cases of congenital hyperinsulinism in girls with Turner Syndrome have been reported [7–11]. Congenital hyperinsulinism is a heterogeneous group of genetic disorders of pancreatic insulin regulation and is the most frequent cause of persistent hypoglycemia in infants and children [12].…”

Section: Introductionmentioning

confidence: 99%

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Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency

Gibson

Boodhansingh

et al. 2018

Horm Res Paediatr

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Background: Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome. Objective: We examined the clinical and molecular features in girls with both congenital hyperinsulinism and Turner syndrome seen at The Children’s Hospital of Philadelphia (CHOP) between 1974 and 2017. Methods: Records of girls with hyperinsulinism and Turner syndrome were reviewed. Insulin secretion was studied in pancreatic islets and in mouse islets treated with an inhibitor of KDM6A, an X chromosome gene associated with hyperinsulinism in Kabuki syndrome. Results: Hyperinsulinism was diagnosed in 12 girls with Turner syndrome. Six were diazoxide-unresponsive; 3 had pancreatectomies. The incidence of Turner syndrome among CHOP patients with hyperinsulinism (10 of 1,050 from 1997 to 2017) was 48 times more frequent than expected. The only consistent chromosomal anomaly in these girls was the presence of a 45,X cell line. Studies of isolated islets from 1 case showed abnormal elevated cytosolic calcium and heightened sensitivity to amino acid-stimulated insulin release; similar alterations were demonstrated in mouse islets treated with a KDM6A inhibitor. Conclusion: These results demonstrate a higher than expected frequency of Turner syndrome among children with hyperinsulinism. Our data suggest that haploinsufficiency for KDM6A due to mosaic X chromosome monosomy may be responsible for hyperinsulinism in Turner syndrome.

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“…A total of six girls with Turner Syndrome and congenital hyperinsulinism have been previously reported (Table 3) [7–11]. Three of these cases first presented as neonates.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency

Gibson

Boodhansingh

et al. 2018

Horm Res Paediatr

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“…Turner syndrome (partial or total monosomy X) leads to short stature in females and is associated with impaired glucose tolerance later in life. Until recently, only three patients had been described with mild diazoxide-responsive HH (166, 188, 189), all being mosaic and having the ring X chromosome. Therefore, the abnormal mosaic expression of unknown X-chromosomal gene(s) in the β-cells was suggested leading to HH.…”

Section: Hyperinsulinaemic Hypoglycaemia Due To Syndromesmentioning

confidence: 99%

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism

et al. 2019

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Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic hypoglycaemia. The severity of hypoglycaemia varies depending on the underlying molecular mechanism and genetic defects. The genetic and molecular causes of CHI include defects in pivotal pathways regulating the secretion of insulin from the beta-cell. Broadly these genetic defects leading to unregulated insulin secretion can be grouped into four main categories. The first group consists of defects in the pancreatic K ATP channel genes ( ABCC8 and KCNJ11 ). The second and third categories of conditions are enzymatic defects (such as GDH, GCK, HADH) and defects in transcription factors (for example HNF1α, HNF4α) leading to changes in nutrient flux into metabolic pathways which converge on insulin secretion. Lastly, a large number of genetic syndromes are now linked to hyperinsulinaemic hypoglycaemia. As the molecular and genetic basis of CHI has expanded over the last few years, this review aims to provide an up-to-date knowledge on the genetic causes of CHI.

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“…Certain states, such as chronic disease, other associated systemic conditions (such as gastrointestinal symptoms), or acute illness or trauma should be documented as well. Physical exam should document any developmental delay, midline or other physical defects, or possible syndromes that can contribute to hypoglycemia (Turner syndrome, Beckwith Wiedemann syndrome, or Kabuki syndrome, among others) (31,(82)(83)(84)(85).…”

Section: Diagnostic Considerationsmentioning

confidence: 99%

Approach to hypoglycemia in infants and children

Gandhi

2017

Transl. Pediatr

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Hypoglycemia is a heterogeneous disorder with many different possible etiologies, including hyperinsulinism, glycogen storage disorders, fatty acid disorders, hormonal deficiencies, and metabolic defects, among others. This condition affects newborns to adolescents, with various approaches to diagnosis and management. This paper will review current literature on the history of hypoglycemia, current discussion on the definition of hypoglycemia, as well as etiologies, diagnosis, and management.

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Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)

Cited by 10 publications

References 17 publications

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and <b><i>KDM6A</i></b> Haploinsufficiency

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and <b><i>KDM6A</i></b> Haploinsufficiency

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism

Approach to hypoglycemia in infants and children

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