1/18. Ovarian responses to hCG stimulation: insulin resistance/hyperinsulinaemia vs. insulin deficiency.polycystic ovary syndrome is a heterogeneous disorder characterized by signs and symptoms of hyperandrogenism and insulin resistance. We present the clinical and hormonal features in an adolescent girl who had distinct intervals of insulin deficiency and insulin resistance/hyperinsulinaemia. This case report confirms that insulin resistance/hyperinsulinaemia exacerbates ovarian hyperandrogenism.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/18. Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.We report the case of a patient with carbohydrate-deficient glycoprotein syndrome type Ib who developed normally until 3 months of age, when she was referred to the hospital for evaluation of hypoglycemia that was found to be related to hyperinsulinism. She also had vomiting episodes, hepatomegaly, and intractable diarrhea, which evoked the diagnosis of carbohydrate-deficient glycoprotein syndrome. Oral mannose treatment at a dose of 0.17 g/kg body weight 6 times/d was followed by a clinical improvement and normalization of blood glucose, aminotransferases, and coagulation factor levels. Hyperinsulinemic hypoglycemia should be considered as a leading sign of carbohydrate-deficient glycoprotein syndrome type Ib, especially when it is associated with enteropathy and abnormal liver tests.- - - - - - - - - - ranking = 0.8keywords = deficiency (Clic here for more details about this article) |
3/18. Hyperinsulinemic hypoglycemia associated with possible hypopituitarism in a patient with acquired immunodeficiency syndrome.OBJECTIVE: To describe endocrine dysfunctions associated with human immunodeficiency virus (hiv) infection. methods: We present a case report, discuss the laboratory findings, and suggest potential contributing factors in this complex milieu. RESULTS: A 44-year-old man infected with hiv was admitted with loss of consciousness after a grand mal seizure and was found to have a prolonged course of hypoglycemia in conjunction with increased serum levels of insulin and C peptide. Iatrogenic hypoglycemia was excluded by laboratory evaluations. Hypothalamic-pituitary dysfunction was suspected because the serum growth hormone and cortisol concentrations during hypoglycemia were low. Radiologic evaluation of the brain revealed no structural abnormalities involving the hypothalamic-pituitary area. A normal cortisol response to adrenocorticotropic hormone stimulation (cosyntropin, 250 mg) was documented on two occasions. The cause of the severe hypoglycemic episode and the possible hypothalamic-pituitary-adrenal axis dysfunction in this patient is unknown. CONCLUSION: Despite the complexity of endocrine disorders in hiv-infected patients, the course of the disease in this patient underscores the possibility that some of the endocrinologic changes may be reversible.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
4/18. Hyperinsulinism in short-chain L-3-hydroxyacyl-coa dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.A female infant of nonconsanguineous Indian parents presented at 4 months with a hypoglycemic convulsion. Further episodes of hypoketotic hypoglycemia were associated with inappropriately elevated plasma insulin concentrations. However, unlike other children with hyperinsulinism, this patient had a persistently elevated blood spot hydroxybutyrylcarnitine concentration when fed, as well as when fasted. Measurement of the activity of L-3-hydroxyacyl-coa dehydrogenase in cultured skin fibroblasts with acetoacetyl-CoA substrate showed reduced activity. In fibroblast mitochondria, the activity was less than 5% that of controls. Sequencing of the short-chain L-3-hydroxyacyl-coa dehydrogenase (SCHAD) genomic dna from the fibroblasts showed a homozygous mutation (C773T) changing proline to leucine at amino acid 258. Analysis of blood from the parents showed they were heterozygous for this mutation. Western blot studies showed undetectable levels of immunoreactive SCHAD protein in the child's fibroblasts. Expression studies showed that the P258L enzyme had no catalytic activity. We conclude that C773T is a disease-causing SCHAD mutation. This is the first defect in fatty acid beta-oxidation that has been associated with hyperinsulinism and raises interesting questions about the ways in which changes in fatty acid and ketone body metabolism modulate insulin secretion by the beta cell. The patient's hyperinsulinism was easily controlled with diazoxide and chlorothiazide.- - - - - - - - - - ranking = 0.8keywords = deficiency (Clic here for more details about this article) |
5/18. A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency.CASE REPORT: A case is presented of predisposing a patient's father with obligate heterozygous lipoprotein lipase (LPL) deficiency to mild hypertriglyceridemia in Japanese I-family members (n=8) with patient DI, who was a compound heterozygote for a novel missense mutation of G154V (GG(716)C-->GTC/Gly(154) Val) in exon 5 and a novel splice mutation (Int8/5'-dss/t( 2)c; a T-to-C transition in the invariant GT at position 2 of the 5' donor splice site (dss)) in intron 8 of the LPL gene. RESULTS: The patient's father and paternal grandmother were heterozygotes for the Int8/5'-dss/t( 2)c allele, while the patient's mother and maternal grandmother were heterozygotes for the G154V allele. These four heterozygous carriers with one defective LPL allele showed 45-57% of the mean LPL activity and mass in the post-heparin plasma (PHP) observed in normal individuals. Among the four heterozygous carriers, the patient's father, who was <40 years old, nonobese and hyperinsulinemia, manifested mild hypertriglyceridemia (type IV hyperlipoproteinemia). The remaining three healthy heterozygous carriers (two were >40 years old and the other was <40 years old) were all normolipidemic state. CONCLUSION: In this family, hyperinsulinemia as a marker of insulin resistance may be a strong determinant of hypertriglyceridemia in the carrier with heterozygous LPL deficiency.- - - - - - - - - - ranking = 1.2keywords = deficiency (Clic here for more details about this article) |
6/18. Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).A male infant is described who presented with persistent hyperinsulinaemic hypoglycaemia, responding to diazoxide treatment. However, this therapy was discontinued because of seizures as a consequence of disturbed water and electrolyte balance. Glucose homeostasis could only be maintained by subtotal pancreatectomy, which was performed at 3 8/12 years of age. He developed a severe thrombosis, whereon a congenital disorder of glycosylation (CDG) was suspected. An abnormal transferrin isoelectric focusing pattern was found and the diagnosis of CDG Ia was confirmed by enzyme and molecular genetic analysis. This is the first patient with phosphomannomutase deficiency (McKusick 601785) described presenting with severe hyperinsulinaemic hypoglycaemia.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
7/18. Neonatal hyperinsulinemic hypoglycemia. Two case reports.Neonatal hyperinsulinemic hypoglycemia must be suddenly and appropriately diagnosed and treated to prevent any further neurological dysfunction and damage. Therefore, we report two cases of our observation. Case 1: birth asphyxia, episodes of hypoglycemia after delivery, hyperinsulinism and reduced IGFBP1 blood concentration. Clinical and laboratory pictures resolved progressively after 8 days of life, perfusions were stopped and the neonate began to suck breast milk. Case 2: negative familial and perinatal history. On the 3rd day of life he developed cyanosis, hypotonia, tremors and hypoglycemia. He was discharged with a diagnosis of cerebral injury and neonatal hypoglycemia. At 1 year of life the child showed progressive and heavy neurological damage. The RMN of the brain showed: enlarged ventricles and liquor spaces around the brain, particularly in the frontal region. Hyperinsulinism was diagnosed in our Clinic. He began pharmacological treatment with diazoxide that permitted euglycemia. The ammonium was normal and excluded glutamate dehydrogenase deficiency (mutation of GLUD1 gene); diazoxide responsivity excluded mutations of SUR1 and KIR6.3 genes. At 9 years of life he showed motor and language retardation. Newborns with perinatal history of asphyxia may develop transient hyperinsulinism with absent neurological consequences. Persistent hypoglycemic or epileptic-like episodes, in particular on waking up, after meals or during banal infections, must be studied to reveal hyperinsulinism.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
8/18. Hyperinsulinemia induced by highly active antiretroviral therapy in an adolescent with polycystic ovary syndrome who was infected with human immunodeficiency virus.OBJECTIVE: To report a case of polycystic ovary syndrome (PCOS) in an adolescent infected with human immunodeficiency virus (hiv) and lipodystrophy whose insulin resistance was induced by highly active antiretroviral therapy (HAART). DESIGN: Case report. SETTING: Academic department of pediatrics. PATIENT(S): A 14-year-old vertically hiv-infected adolescent receiving HAART. INTERVENTION(S): Clinical observation, metabolic and endocrinologic assessment, imaging of ovaries by ultrasound, and of intra-abdominal adipose tissue content by magnetic resonance imaging. MAIN OUTCOME MEASURE(S): lipodystrophy, insulin resistance, PCOS. RESULT(S): After 34 months of HAART this adolescent showed lipodystrophy with central obesity and insulin resistance after oral glucose tolerance test (OGTT). Ovaries were normal at ultrasonography. After 56 weeks of HAART, the adolescent showed more severe evidence of lipodystrophy and insulin resistance, and she developed acne, hirsutism, and amenorrhea. The following hormone levels were elevated: FSH 5.9 mUI/mL, LH 15.4 mUI/mL, LH/FSH ratio >2.5, free T 5.6 pg/mL, DHEAS 2,070 ng/mL, androstenedione (A) 3.42 ng/mL; whereas 17-beta-E(2), P, PRL, and free T(4) values were within the normal range. ultrasonography demonstrated a typical polycystic echographic architecture of the ovaries. CONCLUSION(S): lipodystrophy and insulin resistance are well-recognized side effects of HAART. polycystic ovary syndrome might be an additional side effect secondary to insulin resistance and lipodystrophy.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
9/18. Metabolic effects of growth hormone therapy in an alstrom syndrome patient.AIM: To investigate the metabolic effects of recombinant human growth hormone (rhGH) in an alstrom syndrome patient with growth hormone deficiency. methods: A 15-year-old alstrom syndrome boy with growth hormone deficiency received rhGH therapy for 1 year. Biochemical parameters, including hepatic enzyme levels, lipid profiles, and insulin sensitivity, were measured. body composition analysis and computed tomography scans of the liver were performed. RESULTS: After 1 year of rhGH treatment, body fat mass, fat infiltration in the liver, and serum lipid profiles had all decreased. Insulin sensitivity and acanthosis nigricans improved. CONCLUSION: rhGH therapy might have beneficial effects on body composition, liver fat content, lipid profiles, and insulin resistance in alstrom syndrome patients, with improvement of the glucose homeostasis.- - - - - - - - - - ranking = 0.4keywords = deficiency (Clic here for more details about this article) |
10/18. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.Inappropriately elevated insulin secretion is the hallmark of persistent hyperinsulinemic hypoglycemia of infancy (PHHI), also denoted congenital hyperinsulinism. Causal mutations have been uncovered in genes coding for the beta-cell's ATP-sensitive potassium channel and the metabolic enzymes glucokinase and glutamate dehydrogenase. In addition, one hyperinsulinemic infant was recently found to have a mutation in the gene encoding short-chain 3-hydroxyacyl-coa dehydrogenase (SCHAD), an enzyme participating in mitochondrial fatty acid oxidation. We have studied a consanguineous family with severe neonatal hypoglycemia due to increased insulin levels and where well-established genetic causes of hyperinsulinism had been eliminated. A genome-wide, microsatellite-based screen for homozygous chromosomal segments was performed. Those regions that were inherited in accordance with the presupposed model were searched for mutations in genes encoding metabolic enzymes. A novel, homozygous deletion mutation was found in the gene coding for the SCHAD enzyme. The mutation affected rna splicing and was predicted to lead to a protein lacking 30 amino acids. The observations at the molecular level were confirmed by demonstrating greatly reduced SCHAD activity in the patients' fibroblasts and enhanced levels of 3-hydroxybutyryl-carnitine in their blood plasma. urine metabolite analysis showed that SCHAD deficiency resulted in specific excretion of 3-hydroxyglutaric acid. By the genetic explanation of our family's cases of severe hypoglycemia, it is now clear that recessively inherited SCHAD deficiency can result in PHHI. This finding suggests that mitochondrial fatty acid oxidation influences insulin secretion by a hitherto unknown mechanism.- - - - - - - - - - ranking = 0.4keywords = deficiency (Clic here for more details about this article) |
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