ESPE Abstracts

Background: Adrenocortical Tumors (ACT) is a rare endocrine malignancy with heterogeneous presentation.Aim: To evaluate the clinical, biochemical and pathologic characteristics of pediatric ACT in a single tertiary center.Subjects and methods: Review of 28 medical records with childhood ACT (chronological age (CA) <18 years (y) treated between 1987 and 2017. Clinical, biochemical, and histological features (Wieneke index), stag...

Cushing’s disease (CD) is rare entity especially in pediatric patients. It is associated with significant morbidity. Early diagnosis and treatment is important for optimal outcome.Aim: To evaluate the clinical, biochemical, pathology, treatments and outcome in a cohort of CD pediatrics patients in a single tertiary center.Subjects and Methods: Retrospective review of 27 medical records of CD ...

Introduction: The combination Down/Klinefelter syndrome was first described in 1959 by Ford. Its frequency is 0.4-0.9 / 10,000 newborn boys.Case presentation: A boy aged 5 y 4 m, born from a 2nd high-risk pregnancy (mother aged 44 with 1st pregnancy resulting in spontaneous abortion at 12 gestational weeks and with twice-established anemic syndrome) with (+) biochemical screening for Down syndrome. Birth was given via pl...

Aggrecan (ACAN) is the major proteoglycan in the articular cartilage, critical for the structure and function of growth plate cartilage.Case Report: 11-year-old (y) boy admitted at 1.8 y of chronological age (CA), due to poor growth rate Height (H): 76 cm (−2.75 SDS). Initial physical examination: mild dysmorphic features and prepubertal external genitalia (two scrotal testes, 1 cc volume each). Neurologic maturation was normal. Initial bo...

Background: PanEuropean(SIOP) trials of treatment for childhood brain cancers (medulloblastomas/PNET) showed a 5% survival advantage with ‘sandwich’ gonadotoxic chemotherapy (CT) over surgical excision, neuraxial radiation and tumour boost (RT) alone. But this was tempered by a reduced quality of survival at 7 years.Objective: To assess the long term prevalence of subfertility after CT with/without neuraxial radiation.<p class="a...

Introduction: DSD patients present varied degrees of atypical genitalia. The social sex assignment and the surgery decisions must be proceeded by a multidisciplinary team approach with the family. Surgeries should be only performed by experienced surgeons. The current trend is the early correction, but some patients and non-governmental entities argue that the surgeries should be delayed until the patient’s consent.Objective...

Introduction: The influence of sex chromosomes and sex hormones on early human brain development is still poorly understood. Expression of Y chromosome genes may influence aspects of brain maturation in the 46,XY fetus, but the contribution of different Y genes is unknown. Furthermore, a marked increase in testicular testosterone biosynthesis/release from the testis occurs at around 8 weeks post conception (wpc) in the 46,XY fetus, but it is unclear whether te...

In CAH due to 21-OH deficiency, GH treatment combined to GC and MC replacement is still considered to be experimental. We present a patient who has benefited from such treatment. A baby girl was born in term with clitoromegaly and manifested with salt loose at neonatal period. Low serum morning cortisol and sodium with high potassium and 17-OH levels were found resulted in the clinical diagnosis of CAH. The karyotype was 46,XX. Prednisolone and DOXA, the only available hormone...

Background: The XX male syndrome – Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. The project ‘Genetics of Human Disorders of Sexual Development’ is funded by Swiss National Science Foundation and fulfilled by the University of Geneva Medical School, the Medical Centers from Armenia, Poland and Ukraine. The goal is to identify mutation...

GH deficiency (GHD) associated hypoglycaemia in infancy is an indication for GH treatment, although it is described in GHD1in older children. At that time, GH is prescribed in GHD for short stature. Here, two children are described in whom hypoglycaemia is the main reason to treat with GH. Patient one had hypoglycaemic seizures due to GHD in infancy. GH treatment was stopped with 5.5 y for reassessment. Growth rate diminished and hypoglycaemias occurred. Treatment of GH was re...