ESPE Abstracts

Background: Polycystic ovarian syndrome (PCOS) diagnosis includes ovarian morphology using transvaginal ultrasound (US). However transvaginal US cannot be used in virginal girls and transabdominal US is not optimal particularly in obese patients.Objective and hypotheses: To evaluate the validity and reproducibility of ovarian morphology measures using MRI for the diagnosis of PCOS in adolescents.Method: This case-control study (200...

Background: 46,XY patients with SF-1 mutations have sex reversal or ambiguous genitalia (with or adrenal insufficiency) due to dysgenetic testis. In most cases, a severe defect in testosterone (T) production has been found. We described here 3 cases showing the variability in T production.Results: Case 1: A was seen at the age of 17 years for primary amenorrhea. Tanner stage was B2PH3. External genitalia were normal. FSH was 55 IU/l, LH 17 IU/l,...

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children.Objective and hypotheses: Recently, mutations in genes usually involved in MODY 1 and 3 have been described in HI.Method: We present here six cases of hyperinsulinism associated with MODY1 (one case) and MODY3 (four cases) and one case of HI associated with MODY5 mutation.Results: Case 1...

Background: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency (IAD) is a rare condition. It is characterized by low plasma and cortisol levels and preservation of all other pituitary hormones (2 cases described with transient partial growth hormone deficiency). The principal molecular cause is identified as TPIT mutation. We present here the case of a neonate with TPIT mutation and ACTH deficiency associated with probable growth hormone and thyrotropin deficie...

Background: Pseudohypoparathyroidism (PHP) is characterized by proximal tubular resistance to PTH and, in some disease variants, by Albright osteodystrophy. PHP is caused either by mutations in those regions of GNAS encoding Gsα (PHP1A and PseudoPHP) or by GNAS methylation defects (autosomal dominant (AD) and sporadic (spor) PHP1B). Phenotypic differences in fetal growth, post-natal growth and metabolism are observed in the different PHP types.<p cla...

Thiamine-Responsive Megaloblastic Anaemia (TRMA) is a rare autosomal recessive disorder emerging due to mutation in the thiamine transporter 1 gene. It presents with sensorineural hearing loss, non-immune diabetes mellitus and megaloblastic anaemia. Ocular manifestations of TRMA described so far include optic atrophy and cone-rod retinal dystrophy. This paper presents a case report of a British-Pakistani adolescent boy unexpectedly diagnosed with bilateral severe proliferative...

Background: In the vast majority of cases, achondroplasia and hypochondroplasia are attributable to hotspot missense mutations in the FGFR3 gene. 96% of patients have a G(1138)A and 3% have a G(1138)C point mutation. We report on a family whose members have a deep intronic mutation that leads to a novel cryptic splicing variant of the FGFR3 gene, and via this pathway results in new pathogenicity manifesting as achondroplasia.Case...

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...

Background: Congenital hypothyroidism (CH) caused by DUOX2 deficiency has a wide range of clinical presentations and phenotype-genotype correlations are not always straightforward.Objective: To describe four children from Quebec with biallelic DUOX2 variants and widely variable phenotypes.Design/Methods: Case series of four children seen for evaluation of thyroid function at the endocrinology service of two university hospitals in ...

Introduction: Nonadherence to insulin therapy is a significant problem worldwide, which is associated with poor health outcomes among patients with type 1 diabetes (T1D). It is important to identify the risk factors related to nonadherence to target those at higher risk of diabetic complications. In Singapore, there is a knowledge gap in understanding the risk factors for insulin nonadherence in paediatric patients with T1D.Objectives: To assess the prev...