ESPE Abstracts

Background: Obesity-related insulin resistance is present in obese children and Matsuda index is a method proposed to evaluate insulin resistance, using data obtained from the oral glucose tolerance test (OGTT).Objective and hypotheses: To investigate whether the clinical indicators of family history of obesity and/or Type II diabetes, acanthosis nigricans, and increased waist circumference are associated with insulin resistance, as calculated by the Mat...

Background: Lipoprotein lipase (LPL) deficiency is an autosomal recessive disease with deficient extrahepatic removal of blood lipoproteins.Objective and hypotheses: Primary LPL deficiency can be exacerbated by coexistent conditions such as diabetes, where relative or absolute insulin deficiency leads to an additional secondary LPL deficiency.Method: We describe two cases in which primary LPL deficiency overlapped with previously d...

Background: Ovotesticular DSD is a rare disorder defined by the presence of both ovarian and testicular tissues in the same individual. SRY is present in approximately 1/3 of patients with 46, XX ovotesticular DSD. In SRY-negative ovotesticular DSD, the mechanism responsible for the presence of testicular tissue is not yet understood.Case presentation: A male patient was referred to us for hypospadias and bilateral cryptorchidism at 2.5...

Background: Growth hormone deficiency (GHD) is the most common endocrine cause of impaired growth. Recombinant human GH (rhGH) therapy does not always achieve complete catch-up growth or final height within the genetic target height despite standardised treatment guidelines. The factors causing the considerable variability in responsiveness to rhGH have not yet been fully elucidated. Apart from a number of auxological and clinical parameters, genetic factors also appear to pla...

Background: Primary generalised glucocorticoid resistance (PGGR) is a rare condition characterised by tissue insensitivity to glucocorticoids owing to inactivating mutations of the hGR gene. A new case of PGGR was reported in a patient with an adrenal incidentaloma harboring a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 of the receptor.Objec...

Background: Neonatal diabetes is a rare disorder with an incidence of between 1 in 215 000–500 000 live births with approximately 50% having permanent neonatal diabetes (PNDM). Insulin gene (INS) mutations have recently been described as a cause of PNDM.Objective and hypotheses: To describe clinical features and laboratory manifestations of patient with PNDM due to INS gene mutation and evaluate outcome of management....

Introduction: Congenital hyperinsulinaemic hypoglycaemia of infancy (CHHI) associates with mutations in known genes in approximately 60% of cases. CHHI and mutations in HNF4A gene are reported in 0.5–2.4% in large series. A case of CHHI with renal Fanconi syndrome (FS) and hepatopathy is presented.Clinical description: Male newborn, gestational age: 38 weeks, weight: 4250 g +2.7 S.D., length: 55 cm +3.29 S.D., ...

Introduction: Kisspeptin stimulates the gonadotropin releasing hormone (GnRH) neurons in hypothalamus initiating puberty. However, it is not known whether GnRH inhibits kisspeptin secretion by negative feedback and whether there are any associations between circulating levels of kisspeptin and other hormones, like ghrelin, important for the onset of puberty.Methods: Thirteen girls with suspected central precocious pubert...

Background: Papillary thyroid cancer has been described in three patients with Turner syndrome (TS) who received growth hormone therapy (Cabanas P, 2005; Bautembach-Minkowska J, 2018). We are presenting a case of papillary thyroid cancer in a girl with a late-diagnosed Turner syndrome who has not received any hormonal therapy up to 17 years.Clinical case: A girl was diagnosed with TS syndrome (karyotype 45XO/46X i(X)q) a...

Aim: To study the incidence of childhood thyrotoxicosis in five counties in central Sweden during 1990–2009 and to study the treatment outcome.Methods: Children below the age of 16 years diagnosed with thyrotoxicosis during the 20-years period and living in the study area were identified retrospectively. Data on the total number of children below 16 years of age living in the area during the study period was collected from the National Board of Stat...