ESPE Abstracts

Background: Mammary duct ectasia is a bening breast condition which affects primarily middle-aged to elderly women. However, it can occurs wherever there is breast ductal epithelium.Case presentation: A 9-years-old boy was referred to the regional paediatric endocrine clinic from the General Practicioner due to gynaecomastia. Pubic hair development started at the age of 8. Personal and family history were unremarkable except for a history of coping with ...

Background: Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome, associated with tumors such as pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumors (SLCT), multinodular goiter (MNG), cystic nephroma (CN), embryonal rhabdomyosarcoma (ERMS) or primitive neuroectodermic tumor. DICER1 is involved in the generation of microRNAs (miRNAs), short, double-stranded, non-coding RNAs that modulate gene expression at ...

Osteogenesis imperfecta (OI) is a rare, hereditary bone dysplasia with a broad clinical spectrum that includes skeletal and extra-skeletal manifestations. It is genetically heterogeneous and there are multiple described mutations that explain the clinical variability of this entity and make it difficult to establish a genotype-phenotype correlation.Objectives: To evaluate the clinical and genetic characteristics of the patient with OI.</...

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...

We report and discuss a case of a girl who at birth underwent surgery for Hirschsprung Disease (HD). To closely investigate her condition, we used a Next Generation Sequencing (NGS) panel to carry out a study of some of the genes known as being associated with congenital megacolon (PHOX-2B, RET, EDN3, GDNF, ASCL1 and BDNF). This analysis showed a maternally inherited heterozygous variant in the RET protooncogene (c.734T>A, p.Val245Glu), which is not described in the scienti...

Background and Aims: A pre-clinical stage of type 1 diabetes (T1D) often precedes by many years the overt clinical symptoms. Diagnosis during this period is often difficult and is based on the presence of specific islet autoantibodies in the subject's blood. First-degree relatives of patients with T1D were tested using the 3 Screen ICA TM ELISA (RSR Ltd) for combined testing for autoantibodies to GAD65 (glutamic acid decarboxylase, 65kDa isoform), ZnT8 (z...

Cornelia de Lange syndrome is a genetic disorder with physical, cognitive, somatic and endocrine disorders. Objective. To study endocrine and mammary disorders in girl with Cornelia de Lange syndrome. Objective and hypotheses: We describe a clinical case of Cornelia de Lange syndrome in girl, 10 y.o.Method: Total examination (includingmammological and gynecological examination), hormonal analysis, thyroid, mammological and gynecological ...

Introduction: Only 1.8% of thyroid malignancies occur during childhood, explaining very limited pediatric data. Most frequent in children are papillary thyroid carcinoma (PTC), occurring after exposure to radiation, and presenting as a thyroid nodule ± cervical lymph nodes. PTC may present as diffusely infiltrating disease of the thyroid with microcalcifications. We report an uncommon presentation of a PTC in a 7 year old boy.Case report: The boy wa...

Of the 67 included DSD patients, 33% were HSCs. 68% women and 32% men, with a total concordance between legal sex, current gender and chromosomal sex. Median age: 10.5 years, IQR 8-14. The most frequent clinical form was non-classical (NC) 45.5%, followed by classical with saline loss (CPS) 41%. The distribution of each clinical form according to the karyotype is significant (P = 0.013), the most frequent with XY karyotype is CPS and in NC forms all cases are XX. Med...