Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13

Tamame, Takuya; Hori, Naoaki; Homma, Hidekazu; Yoshida, Rie; Inokuchi, Mikako; Kosaki, Kenjiro; Takahashi, Tsuyoshi; Hasegawa, Tomonobu

doi:10.1002/ajmg.a.30147

Cited by 14 publications

(10 citation statements)

References 7 publications

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“…Hyperinsulinemic hypoglycemia has been recognized in association with trisomy 13 [Tamame et al, 2004], Beckwith–Weidemann syndrome [Munns and Batch, 2001; Hussain et al, 2005], congenital disorders of glycosylation (CDG) [Bohles et al, 2001; de Lonlay et al, 2001], and some patients with undiagnosed syndromes [Meissner et al, 2001]. In trisomy 13 overdosage of certain gene(s) such as the insulin promoter factor‐1 gene ( IPF1 ) located at 13q12.2, and the caudal‐type homeo box transcription factor 2 gene ( CDX2 ) located at 13q12.3 may be involved in causing hyperinsulinism.…”

Section: Discussionmentioning

confidence: 99%

Costello syndrome and hyperinsulinemic hypoglycemia

Alexander

Ramadan

Alkhayyat

et al. 2005

American J of Med Genetics Pt A

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Costello syndrome is characterized by mental retardation, loose skin, coarse facies, skeletal abnormalities, cardiovascular abnormalities (congenital heart defects, cardiomyopathy, rhythm disturbances), and predisposition to neoplasia. Endocrine abnormalities including growth hormone deficiency, adrenal insufficiency, glucose intolerance, parathyroid adenoma with hyperprolactinemia and hypoglycemia have been described. Hypoglycemia has been documented due to growth hormone and cortisol deficiency. We report on two patients with Costello syndrome and persistent hyperinsulinemic hypoglycemia and review the endocrine manifestations of Costello syndrome. Both patients required diazoxide therapy to stop the unregulated insulin secretion and maintain normoglycemia. The mechanism of persistent hyperinsulinism in patients with Costello syndrome is unclear.

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Section: Discussionmentioning

confidence: 99%

Costello syndrome and hyperinsulinemic hypoglycemia

Alexander

Ramadan

Alkhayyat

et al. 2005

American J of Med Genetics Pt A

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“…Other syndromes associated with HH include Costello (169), Trisomy 13 (167), central hypoventilation syndrome (174) and recently in CHARGE syndrome (177) (Table 2).…”

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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“…Table 1 lists the syndromes which have been reported in association with HH [6, 7,27,28,29,30,31,32]. The mechanism/s of HH in most of these syndromes is/are not known.…”

Section: Syndromic Forms Of Hhmentioning

confidence: 99%

Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia of Infancy

Hussain¹

2007

Horm Res Paediatr

150

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Hyperinsulinaemic hypoglycaemia is a cause of persistent hypoglycaemia in the neonatal and infancy periods. Prompt recognition and management of patients with hyperinsulinaemic hypoglycaemia are essential, if brain damage and long-term neurological sequelae are to be avoided. Hyperinsulinaemic hypoglycaemia can be transient, prolonged, or persistent (congenital). Advances in the fields of molecular biology, genetics, and pancreatic β-cell physiology are beginning to provide novel insights into the mechanisms causing congenital forms of hyperinsulinism. So far mutations in six different genes have been described that lead to unregulated insulin secretion. The histological differentiation of focal and diffuse congenital hyperinsulinism has radically changed the surgical approach to this disease. Until recently, highly invasive investigations were performed to localize the focal lesion, but recent experience with ¹⁸F-L-dopa positron emission tomography scanning suggests that this technique is highly sensitive for differentiating diffuse from focal disease as well as for accurately locating the focal lesion. Despite recent advances, the genetic basis of congenital hyperinsulinism is still unknown in about 50% of the patients, and the management of medically unresponsive diffuse disease remains a real challenge.

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Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13

Cited by 14 publications

References 7 publications

Costello syndrome and hyperinsulinemic hypoglycemia

Costello syndrome and hyperinsulinemic hypoglycemia

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism

Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia of Infancy

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