ESPE Abstracts

The Ovotesticular Disorder of Sexual Development (OT DSD) is a rare condition characterized by histologic demonstration of both ovarian and testicular tissue in the same individual. Descriptions in literature usually have small samples and do not include patient evolution data. The aim of this study is to describe clinical, biochemical and histological findings, as well as long-term outcomes (including onset and progression of puberty) in patients with OT DSD, accompanied betw...

Background: Polycystic ovary syndrome (PCOS) in adolescence has a challenging diagnosis and therefore has raised intense discussions. Its prevalence in childbearing age women ranges from 5 to 10%. However, the prevalence in obese adolescents has not yet been reported. Besides, the relationship of PCOS with metabolic and cardiovascular disorders in this specific population has not been established.Objective and hypotheses: We aimed to assess the prevalenc...

Background: Prader–Willi syndrome (PWS) patients have been followed in our country in different ways but without a reference center. In January 2015, we started a PWS reference center in Sao Paulo University to promote a better care for patients and families and to support them with a multidisciplinary team, including pediatric endocrinologist, dietician, nurses, neurologist specialized in sleep disorders and otorhinolaringologist.Method: Forty-two ...

Background: Severe obesity (SO), defined as BMI ≥95th percentile, has increased worldwide among adolescents. American studies estimated that 1.3–2.8% of 12–19-year-old individuals have a BMI >40 kg/m2 or a BMI >35 kg/m2 with at least one serious co-morbidity. The immediate and long-term risks associated with SO in adolescents include cardiovascular and metabolic diseases, obstructive sleep apnoea, and nonalcoholic fatty liver disea...

Objective and hypotheses: To describe the morphological characteristics of patients with Prader-Willi Syndrome (SPW) who have been followed in a Pediatric Endocrinology Outpatient Clinic.Method: We performed a retrospective study on 51 patients evaluating the age of diagnosis, genetic mutation, use of GH (rhGH), age of beginning of follow-up, and z-score of weight, height and BMI. Data on their first and latest visit to our clinic were compared....

Background: Obstructive sleep apnea syndrome (OSAS) in children is a common medical disorder, often associated with adenoid and tonsil hypertrophy. The prevalence of OSAS has been increasing due to alarming rates of obesity in childhood. This is a very concerning subject since there is a higher risk of cardiovascular outcomes in patients with elevated BMI and OSAS.Objective and hypotheses: The aim of this study is to report a hazardous case regarding chi...

Background: Obesity in Prader-Willi Syndrome has peculiar features associated to reduced lean body mass which could confer different metabolic characteristics.Objective and hypotheses: The aim of this study is to describe and to compare the metabolic profile in obese patients and obese Prader-Willi syndrome patients (OPWS) followed in a Pediatric Endocrinology outpatient clinic.Method: 45 obese and 22 OPWS patients between 8 and 20...

Introduction: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Rearrangements affecting chromosome 15 are rare and affected patients show a variety of nonspecific features...

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype associated with primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Objective and hypotheses: Phenotype correlation study (clinical, hormonal, and histol...

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype and streak gonad diagnosed late because of absent of pubertal development and primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Family case reports: Al...