ESPE Abstracts

Objective: The first line of treatment for Cushing`s disease (CD) is transsphenoidal surgery (TSS), whose effectiveness range is from 70 to 90%. If surgical treatment is unsuccessful or recurrence appears, radiation treatment (RT) is the next therapeutic option, which effectiveness range is also 90%, but the hypopituitarism rate as side effect of treatment is higher.Aim: Analysis of recurrence rates of CD and side ...

Introduction: Leptin, some cytokines and triglycéride/colesterol -HDL ratio (TG/C-HDL ratio) are markers of insulin-resistance in children and adolescents with overweight/obesity. Due to the high prevalence of this pathology it’s necessary to find and easy and better routinely marker that identify these patients in the outpatient clinic. Previous results demonstrated that TG/C-HDL ratio >2 was a better predictor of metabolic syndrome (sensitivity 100%; specificit...

Background: Different severities of bronchopulmonary dysplasia (BPD) may adversely affect postnatal growth of small preterm infants (PT).Objective: To measure postnatal growth data for 69 (39 F, 30 M) preterms with BPD.Method: We studied growth parameters of 69 PT with BPD for 16±3 months postnatally. 40 had mild, 20 had moderate and 9 had severe BPD.Results: 96% of infants were appropriate for gestation...

Background: GH deficiency (GHD) occurs in one in 4000–one in 10 000 children, but can also be diagnosed in adults.1 GHD therapy typically requires injections over a period of years.2 Adherence to long-term GHT presents a challenge.Objective and hypotheses: This study describes the rates of adherence to GHT among patients with GHD.Method: Members who were continuously enrolled 6 months pre- and 12 months p...

Background: The rate of direct genotype–phenotype correlation in 21 hydroxylase deficiency congenital adrenal hyperplasia (CAH) is <50%. We report two cases of genotype/phenotype non-concordance, which has been explained by gene sequencing.Family 1: in a non-consanguineous family of Irish, German, and Italian ethnicity there are five children. Two of the boys have hormonal evidence of CAH owing to 21-hydroxylase deficiency. The third boy has no ...

Background: Rare-disease registries are considered to be the key for improving patient care through research and audit. In the field of paediatric endocrinology, the views of parents and affected young people about such registries are unclear.Objective: To conduct a survey to understand the views of parents and young people with rare conditions.Method: A structured questionnaire was completed by two groups of clinic attendees, thos...

Background: This is a case of an 18 year old phenotypic female of Bolivian origin with a 46,XY karyotype, uterus and menstruation with estrogen replacement. She was initially diagnosed with androgen insensitivity based on Leuprolide and HCG stimulation testing results. With menstruation, other etiologies are being considered.Case presentation: She presented with clitoromegaly and moderate posterior labial fusion (Prader III). Laboratory evaluation at 6&#...

Introduction: Cushing’s syndrome is rare in the paediatric population, affecting 0.89 per million children between the ages of 0 and 20 years. The causes of Cushing’s syndrome of endogenous origin are dominated by pituitary causes in 70-95%, with a peripubertal revelation. We report the case of a child followed for Cushing’s disease in the department of Endocrinology-Diabetology-Nutrition of Mohammed-VI University Hospital Center of Oujda, in th...

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...

Background: Turner syndrome (TS) is one of the most common genetic disorders in females and occurs in phenotypic females who are missing all or part of one sex chromosome. While the most common mosaic forms of the disorder are 45,X/46,XX and 45,X/46,Xiq, mosaicism for cells containing Y chromosome material is well documented.Objective and hypotheses: Owing to increased risk of gonadoblastoma (GB), current recommendations are for elective gonadectomy foll...