ESPE Abstracts

Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the cardiovascular and metabolic morbidity. The long term outcome in CAH was studied using the Swedish national CAH registry, 588 patients 335 females and 253 males, >80% with known severity of CAH; were compared with 100 controls per patient matched for sex, and year and place of birth. Information on mortalty, cause of death, ...

Introduction: Disorders of sex development (DSD) describes conditions affecting gonadal and adrenal function and therefore to large extent affect fertility. In some cases the gonads have been removed due to risk of malignancy. Information to the patients about their fertility and treatment options have not been optimal in the past.Objective: To describe fertility outcome in the different diagnostic groups of DSD and to assess to what extent assisted repr...

Background: Partial Androgen insensitivity syndrome (PAIS) is a rare condition which is associated with a variable phenotype. To date, there are limited data reporting long-term endocrine outcome for this condition.Aims: To determine the outcomes and clinical characteristics for 46, XY males with PAIS, using information from the International DSD (I-DSD) Registry and its clinical users.Methods: The I-DSD Registry and its users were...

Introduction: 6 Mercaptopurine (6MP) is a cornerstone of maintenance therapy in pediatric acute lymphoblastic leukemia (ALL). Fasting hypoglycemia is a rare side effect of 6MP therapy that has been observed in children being treated for ALL. We present two pediatric patients who developed symptomatic, fasting hypoglycemia during maintenance therapy.Case Description: A 7-year-old male with standard risk B ALL receiving ma...

Background: DICER1 is a member of the Ribonuclease III family that plays a crucial role in the biogenesis and the maturation of microRNAs. Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations: in addition to first described pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumours, individuals may also develop benign (multinodular goiter MNG, cystic nephroma\.) or malignant tumours as differen...

Background: Monitoring treatment of children with classic congenital adrenal hyperplasia (CAH) is difficult and biochemical targets are not well defined.Objective and hypotheses: To analyse the urinary steroid metabolome of children with classic 21-hydroxylase deficiency (21-OHD) during treatment with hydrocortisone and fludrocortisone.Method: We retrospectively analysed 553 daily urinary steroid hormone metabolite profiles determi...

Background: NSIAD is a rare genetic cause of hyponatremia, due to activating mutations in AVPR2 gene, encoding the Arginine Vasopressin Receptor Type 2, and located on Xq28. Of the fewer than 30 reported cases, most have been managed with fluid restriction and urea.Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management.Method: The clinical, biochemical and gen...

Background: The incidence of perinatal stress hyperinsulinism (PSHI) requiring diazoxide treatment is estimated to be 1:12,000 (Hoe et al., 2006). Diazoxide is used to treat PSHI, but it has been shown to have adverse effects including pulmonary hypertension. Gray et al, reported that of 1.25 million infants admitted to NICUs for hypoglycemia over a period of 18 years, only 1066 received diazoxide suggesting 1:1172 babies had HI however 92% o...

Background: Ectopic ACTH syndrome is very rarely seen in infancy, usually occurring in older children.Case presentation: A female infant was born by Caesarean section (BW 4280 g) with congenital anal atresia and a large tumour surrounding the cross-tail region. CT imaging identified a heterogeneous pelvic mass (76×49×38 mm) below the sacrum. On day 1 of life, a sigmoid colostomy was established and at age 1 week, part of the tumour with the coc...

Background: Children with neurofibromatosis type 1 (NF1) have an increased risk of developing optic pathway gliomas (OPGs) during childhood. Although these tumors usually have a benign course, some cases result in significant clinical symptoms, including endocrinological disorders.Objective and hypotheses: The aim of this study is to evaluate the endocrinological complications of OPGs involving the chiasm in children with NF1.Metho...