ESPE Abstracts

Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...

DSD-LIFE is a comprehensive clinical outcome study investigating medical, surgical, psychosocial, and ethical issues to improve treatment and care of patients with the different diagnoses included in the umbrella term disorders/differences of sex development (DSD). The multidisciplinary DSD-LIFE consortium consists of 15 experienced European scientists in the areas endocrinology, psychology, surgery, gynaecology, urology, and ethics. In 2013 the study protocol and the online d...

Background: It is well known that boys are heavier than girls at birth. Causes of this difference are thought to originate from the Y chromosome and as a result of androgen action. Although some studies showed that sex dimorphism in size at birth is dependent of fetal androgens, one study reported that it is not generated by action of androgens.Objective and hypotheses: To determine birth weight (BW) of children in different aetiologies of disorder of se...

Introduction: Data on BP in children with classic congenital adrenal hyperplasia (CAH) is inconsistent.Aim: To assess the trend in BP throughout childhood using data from the International CAH registry and compare this to normative data from the American Academy of Paediatrics (AAP).Method: This retrospective multi-centre study included 37 centres from 20 countries. BP data was ana...

Background: Puberty is characterised by important changes of brain networks. The glutamate system plays a main role in modulating the onset of puberty as shown for NMDA receptor agonists. However, the underlying mechanisms are poorly understood. Metabotropic mGlu5 receptors (mGluR5) are tightly linked to NMDA receptors. The effect of mGluR5 blockade on neurohormonal mechanisms in puberty initiation were not studied yet.Objective and hypotheses: To invest...

Background: ROHHADNET syndrome is characterised by rapid onset childhood obesity, hypoventilation, variable hypothalamic-pituitary and autonomic dysfunction, and neuroendocrine tumors in 30–40%. Autoimmunity and paraneoplastic syndrome have been proposed as possible pathophysiological mechanisms, but the exact aetiology remains unclear.Objective and hypotheses: We present the clinical course of ROHHADNET syndrome in a 17-year-old girl, with consecut...

Background: In diabetic athletes, glycogen depletion can contribute to the early development of starvation ketones as is demonstrated by our patient.Case presentation: Our patient, a 15-year-old male triathlete with type 1 diabetes for 5 years was referred to our tertiary center because of suboptimal regulation on continuous subcutaneous insulin infusion (CSII). He frequently awoke with nausea and ketosis, which was initially attributed to failure of ins...

Introduction: Congenital adrenal hyperplasia (CAH) is the most common genetic condition in the spectrum of differences of sex development (DSD). Surgery in DSD is a controversial topic and there is no consensus if to perform surgery, how to perform surgery, and when to perform surgery. The current study was designed to evaluate the current practice in CAH related surgical practice in girls.Patients and Methods: All cases...

Pediatric severe obesity is a major threat to health and longevity. Around 7% of children worldwide have early onset severe obesity before the age of 7. Pediatric obesity is caused by an interplay of multiple factors: lifestyle, environmental, sociocultural, psychological, biological and genetic factors. Endocrine, monogenetic or syndromal causes are rare, but currently underdiagnosed and important to identify for the need of specific treatment. Cardiovascular risk factors and...