ESPE Abstracts

Background: Wiedemann Steinert Syndrome (WSS) is characterized by distinctive facial features (hypertelorism, thick eyebrows, long philtrum, broad nasal bridge), growth retardation, and intellectual disability of varying degrees. Affected individuals are often born small for their gestational age and have generalized hypertrichosis. Some have growth hormone deficiency, usually partial with normal pituitary MRI. The disease is caused by autosomal dominant varia...

Aim: The aim of the study was to predict the risk of tumor recurrence in OBTMaterial and Methods: We conducted a retrospective, observational study (2001-2018) on the management of OBT in girls aged 0 to 18 at Toulouse University Hospital, France.Results: 68 patients were included. 16% were prepubertal. Mean age was 11.35 ± 3.08 years. Pain was the main symptom in 49% ...

Introduction: Prolactinoma is the most frequent pituitary tumor (40 %) in children and adolescents is more common in females, sporadic and benign. It is classified into microprolactinoma (< 1.0 cm) and macroprolactinoma (>1.0 cm). In girls it presents clinically as amenorrhea and galactorrhea and occasionally as increased intracranial pressure. Management consist of medications and surgery.Objectives: To char...

In young girls, the occurrence of secretory ovarian cysts may be the first manifestation of Mc Cune Albright Syndrome. We reported the evolutive profile of 8 patients with peripheral precocious puberty (PP) with (n=5 cases) or without metrorrhagia (n=3). On the first episode, they were 3.8 years old (range 2.5 to 7.25 years), the average diameter of the ovarian cyst was 38.5 mm (range 25 to 88 mm), the mean estradiol level was 32.5 pg/ml (range 3 to 160), mea...

Background: Congenital hypothyroidism (CH) is referred to dyshormonogenesis for 15 to 30%. Homozygous mutations associated have been demonstrated in DUOX2, TPO, TG, SLC5A5 (NIS), SLC26A4 (Pendred), DUOXA2, and IYD (DEHAL1) genes.Objective and hypotheses: Previous studies focusing on one or few thyroid-specific genes have proved not to be comprehensive enough for understanding physiopathological mechanisms of HC with dyshormonogenesis. Emerging diagnostic...

Background: Profound hypothyroidism due to Hashimoto thyroiditis (HT) is a cause of severe growth arrest in children. Although it is commonly thought that thyroxine replacement fully restores height deficit, no data on catch up growth are available.Objective and hypotheses: Assess the growth pattern and final height in a series of 10 patients with severe HT afec L-thyroxine therapy was initiated.Method: Monocentric retrospective ob...

Background: Congenital adrenal hyperplasia (CAH) is a rare chronic disease diagnosed and treated from birth. Hormone replacement therapy is essential to lead a normal life and must be adapted to stress. Poor compliance to treatment or inefficacy is life threatening leading to high risk of by dehydration and hypoglycaemia.Objective: The objective of therapeutic education sessions is based on the skills needed for regular intake of pills and recognition of...

Background: Congenital hypothyroidism (CH) is the most frequent endocrine disease in infants with prevalence ratio in the range of 1:2000–1:4000 new-borns. The disorder can be permanent (CHP) or transient (CHT). CH can be classified into two main groups: Dysgenesis, which accounts classically for 80–85% of cases and dyshormonogenesis for remaining 15–20%. From the last decade, studies described a upward trend for CH prevalence and changes in groups’ proport...

Aim: The objective of the study was to determine bone mineralisation density in Turner syndrome (TS) from DSD life cohort, and to analyse the trabecular (lumbar spine = LS) and cortical bone (femoral neck = FN) mineralisation.Materials and Methods: This study was part of the DSD-LIFE study, a cross-sectional clinical outcome study of the BMD of TS adult patients from paediatric cohorts. BMD of the LS and FN were ...

Background: Pituitary stalk interruption syndrome (PSIS) is a frequent cause of congenital hypopituitarism. Patients are initially referred for the evaluation of hypoglycemia during the neonatal period or growth retardation during infancy or childhood. PSIS are either associated with extra-pituitary malformations (EPM+) or isolated (EPM−).Objective and hypotheses: To compare baseline characteristics, GH response, and long term evolution in patients...