Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature
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Vera Pietzner
Abstract
Background: Impaired glucose tolerance and type 2 diabetes are well-known features in patients with Turner syndrome. To the best of our knowledge, there is only one reported case of hyperinsulinemic hypoglycemia associated with a complex mosaic Turner syndrome available in the current literature.
Patient: We report on the case of a 13-month-old girl with a complex mosaic Turner genotype and mild hyperinsulinemic hypoglycemia responsive to diazoxide therapy.
Results: Cytogenetic analyses showed two or possibly three cell lines. Sixty percent of the cell lines had a 45,X genotype and the rest had 46,XX with a marker ring chromosome. Diagnosis of a mosaic Turner syndrome and mild Kabuki-like phenotype was confirmed.
Conclusions: Despite the rareness of this case, clinicians should be aware of the possibility of hyperinsulinemic hypoglycemia in patients with Turner syndrome to prevent further brain damage caused by hypoglycemic episodes and seizures. Although the mechanism leading to hyperinsulinism in this condition is still unknown, the present report discusses this rare presentation and gives an overview on the current literature regarding this case.
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©2014 by Walter de Gruyter Berlin Boston
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- Review article
- Adaptation of glucose metabolism to fasting in young children with infectious diseases: a perspective
- Images in pediatric endocrinology
- Coexistence of testicular microlithiasis with parathyroid adenoma in an obese child
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- Glycemic control in familial vs. sporadic type 1 diabetes patients over 5 years
- Clinical and laboratory features of temporary brittle bone disease
- Age of thelarche and menarche in contemporary US females: a cross-sectional analysis
- Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism
- Retinol and retinyl palmitate in fetal mice liver: sexual dimorphism
- Skeletal maturation and predicted adult height in children with premature adrenarche
- Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia
- Body composition in young patients with galactose metabolic disorders: a preliminary report
- Detection of vascular risk markers in children and adolescents with type 1 diabetes
- X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study
- Factors influencing neonatal thyroid-stimulating hormone concentrations as a measure of population iodine status
- Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study
- Patient reports
- Hypothalamic hamartoma associated with central precocious puberty and growth hormone deficiency
- A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas
- A novel genetic mutation in a Portuguese family with GCK-MODY
- Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy
- Hypocalcemia in a paediatric case: from the clinical features to diagnosis
- A rare case of osteogenesis imperfecta combined with complete tooth loss
- Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism
- Clinical expression of familial Williams-Beuren syndrome in a Turkish family
- The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma
- Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature
- Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency
- Premature thelarche related to fennel tea consumption?
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- Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling
- Marine-Lenhart syndrome in a young girl
- Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy
- Letter to the Editors
- Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty
- Carotid intima media thickness and echocardiography in risk stratification of obese adolescents with non-alcoholic fatty liver disease: what is the “right” approach?
- Vitamin D and the heart: what is the truth?
Articles in the same Issue
- Masthead
- Masthead
- Editorials
- Editorial
- Consensus, guidelines and reviews
- Review article
- Adaptation of glucose metabolism to fasting in young children with infectious diseases: a perspective
- Images in pediatric endocrinology
- Coexistence of testicular microlithiasis with parathyroid adenoma in an obese child
- Original articles
- Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood
- Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: a pilot study
- Glycemic control in familial vs. sporadic type 1 diabetes patients over 5 years
- Clinical and laboratory features of temporary brittle bone disease
- Age of thelarche and menarche in contemporary US females: a cross-sectional analysis
- Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism
- Retinol and retinyl palmitate in fetal mice liver: sexual dimorphism
- Skeletal maturation and predicted adult height in children with premature adrenarche
- Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia
- Body composition in young patients with galactose metabolic disorders: a preliminary report
- Detection of vascular risk markers in children and adolescents with type 1 diabetes
- X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study
- Factors influencing neonatal thyroid-stimulating hormone concentrations as a measure of population iodine status
- Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study
- Patient reports
- Hypothalamic hamartoma associated with central precocious puberty and growth hormone deficiency
- A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas
- A novel genetic mutation in a Portuguese family with GCK-MODY
- Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy
- Hypocalcemia in a paediatric case: from the clinical features to diagnosis
- A rare case of osteogenesis imperfecta combined with complete tooth loss
- Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism
- Clinical expression of familial Williams-Beuren syndrome in a Turkish family
- The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma
- Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature
- Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency
- Premature thelarche related to fennel tea consumption?
- A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
- Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling
- Marine-Lenhart syndrome in a young girl
- Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy
- Letter to the Editors
- Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty
- Carotid intima media thickness and echocardiography in risk stratification of obese adolescents with non-alcoholic fatty liver disease: what is the “right” approach?
- Vitamin D and the heart: what is the truth?
