ESPE Abstracts

Background: Severe-persistent hypoglycaemia (SPH) in congenital hyperinsulinism (HI) can cause blindness and brain damage. First line treatment with diazoxide treatment can cause significant side effects, including fluid retention. Off-label use of i.v. reconstituted glucagon is also used but little safety and efficacy data have been reported.Objective and hypotheses: To evaluate the use of i.v. glucagon infusion for management of SPH in HI.<p class=...

Introduction: Lesional hypothalamic obesity is most frequently attributable to craniopharyngiomas. The aim of our work is to describe the modalities of occurrence of this complication in a series of 27 children with craniopharyngioma followed in our center. We carried out a descriptive retrospective study of 27 cases of craniopharyngioma in children followed in the endocrinology department of the CPMC over a period of 16 years.Re...

Introduction: Multinodular goiter (MNG) is a common disorder of the thyroid gland, characterized by thyroid enlargement due to the development of multiple hyperplastic nodules. It is infrequent in children. Here, we present the case of two families with novel DICER1 mutations and familial history of nodules in adolescence.Observations: A 10-year-old female presented a MNG. TSH, Free T3, Free T4 were in the normal range and thyroid autoantibodies were neg...

Background: Congenital lipoid adrenal hyperplasia is an autosomal recessive adrenal and gonadal steroidogenesis disorder usually caused by a genetic abnormality in the STAR gene encoding the steroidogenic acute regulatory protein (StAR). For 46,XY cases, sex steroid hormone replacement therapy must be initiated together with glucocorticoid and mineralocorticoid treatment.Objective and hypotheses: We present the case of a 30-year-old female with ...

Background: Congenital hyperinsulinism (CHI; MIM #256450) is the most common cause of persistent hypoglycaemia in children. Recessive inactivating mutations in KATP channel subunits, encoded by ABCC8 and KCNJ11 genes, are the most common cause of CHI. Mutations of these genes usually cause forms of CHI which in the vast majority of patients are unresponsive to first line medical treatment with diazoxide. Multiple daily standard octreotide injections combine...

Background: A high proliferative status of thyroid follicular cells and goiter were observed in mutants mice with Pten−/− or Dream overexpression. In humans, patients with Cowden disease have goiters or other thyroid abnormalities associated with germ-line PTEN mutations.Objective and Hypotheses: The aim of this study was to investigate the tissue expression of PTEN and DREAM, as well as germ-line ...

Background: The isodicentric Y (idic Y) is one of the most common aberrations of the Y chromosome. Most patients (pts) are chromosomal mosaics, including 45,X cell line.Objective and hypotheses: Our aim is to describe clinical and molecular features of our 45,X/46,Xidic(Y) cases.Method: We retrospectively evaluate the clinical description of nine cases (six females, one male, two with ambiguous genitalia) with mosaic karyotype 45,X...

Background: The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. This can be ameliorated by administering dexamethasone to the mother.Case: This is a family whose index case is a first son diagnosed by Madrid Newborn Screening Program of CAH with salt-wasting form due to 21-hydroxylase deficiency. Mutation analysis revealed: ‘hybrid deletion’ ...

Introduction: Turner syndrome (TS) is characterized by short stature and premature ovarian failure. Genetic component of TS patients with diagnosis of inflammatory bowel disease has not been largely studied.Case Report: A 94/12-year-old girl with history of Crohn’s disease was evaluated for short stature. Her disease was well controlled with medications, however she continued with linear growth failure. Medical history included...

The presence of endometriosis, from minimal/mild disease up to the rASRM classification for endometriosis stages III and IV, has been described repeatedly in adolescent women. The complaints are common and elicit compassion, but rarely stimulate a thorough research of the cause. The clinical reality is that common complaints of dysmenorrhea or acyclic pelvic pain – even before the onset of menstruation – may hide a disease the severity of which is not reflected by th...