ESPE Abstracts

Background: Central diabetes insipidus (DIC) is usually the final result of lesions affecting the hypothalamic–neurohypophysal system, for the children, Germinoma is the main reason. The MRI aspect is often limited to thickness pituitary stalk with loss of hyperintensity of the neurohypophysis.Objective and hypotheses: Thickening of pituitary stalk is suggestive of germinoma, the clinical picture is dominated by a DIC (90%), associated to hypopituit...

Background: In 2007, the Turner syndrome (TS) Consensus Study Group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey of cardiovascular...

Background: Using ultrasound to examine the glandular breast tissue is a promising method for staging pubertal breast development. However, breast ultrasound for this purpose has not been explored in a large sample of healthy girls in different developmental stages, and normative data have been unavailable.Objective: To present novel pubertal references for breast ultrasound stages, Tanner breast (B) and pubic hair (PH) ...

Background: A mutation in EIF2S3 (NM_001415; Xp22.11) was previously associated with microcephaly and developmental delay in a single pedigree. EIF2S3 encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 initiates protein synthesis by forming a ternary complex with GTP and initiator methionyl-tRNA which then binds to the 40S ribosomal subunit, enabling scanning of mRNA from the 5′ end to...

Introduction: There are few longitudinal male cohort studies with serial assessments of growth and puberty.Objective: To describe the design and implementation of a longitudinal cohort study of Russian boys evaluated annually for growth, development and puberty.Design/methods: We assembled a multi-disciplinary team of U.S. and Russian researchers to design and conduct a longitudinal boys’ cohort study in Chapaevsk, Russia with...

The epidemic spread of obesity in children has triggered the commitment of scientific research, which has allowed us to understand its genetic basis; the different forms of genetic obesity share common clinical aspects, making it difficult to achieve a molecular diagnosis based only on our clinical suspicion. We report a female patient presented with neonatal hypotonia, hyperphagia and early onset excessive weight gain, strabismus and high hypermetropia. Regarding her neurodev...

We report a pediatric patient with an undiagnosed and complex medical manifestation who was shown to have paternal isodisomy at chromosome 7. Our case is a female patient presented for increasing overweight, parotid hemangioma and gastroesophageal reflux with laryngomalacia. She was born at 35+4 weeks of gestation and her birth weight, length and occipitofrontal circumference (OFC) were 2500 g, 49 cm and 33 cm, respectively. At the time of our visit she was 16 months old, ...

Introduction: Post-marketing surveillance registries provided extensive information about the safety and efficacy of daily growth hormone (GH) therapy during treatment. With the availability of novel long-acting GH (LAGH) therapies, it is important to determine whether the novel molecules or the different pattern of GH exposure lead to changes in the efficacy and safety profile. Therefore, new surveillance registries of LAGH are warranted.<p class="abstext...

Treatment of short stature in children born small for gestational age (SGA) requires daily growth hormone (GH) injections that can be burdensome for patients and caregivers. Once-weekly somapacitan is a long-acting GH in phase 3 development for replacement therapy in children with GH deficiency. We report the 52-week results of the first phase 2, multinational, randomised, open-label, controlled, dose-finding trial (NCT03878446) investigating efficacy and safety of somapacitan...

Background: The presentation of early-onset Primary Ovarian Insufficiency (EO-POI), most often with primary amenorrhea, is at one end of a spectrum spanning 40 years. The aetiology of POI is frequently unclear but next generation sequencing of varied age groups has identified several associated genetic variants. Whether girls with EO-POI are more likely to have a genetic aetiology than those with later presentations remains unknown.<stro...