ESPE Abstracts

Introduction: Papillary thyroid carcinoma (PTC) in the pediatric and young adult population presents contradictory features: it shows higher rates of multifocal disease, local and distant metastasis, and recurrence compared to adults, yet the overall 5-year survival rate remains exceptionally high at 98-100%. In children, RET/PTC rearrangements are the major somatic genetic alterations that drive the formation of PTC. On the other hand, mutations in <...

Prior to the clinical and commercial introduction of noninvasive prenatal testing (NIPT) by sequencing of maternal plasma cell-free DNA in 2011, most fetuses with Turner syndrome were detected by sonographic findings related to lymphedema or incidentally. NIPT, however, has transformed prenatal genetic screening, and an estimated 4–6 million tests have been performed worldwide. In the maternal plasma sample there is both maternal and placental cell-free DNA. Following a s...

Case presentation: We recently started a 9-year-old girl with hypoparathyroidism due to a mutation in the PTH gene on a pump therapy with 1–34 rhPTH. She has received calcitriol and calcium since the age of 4 months. Bilateral nephrocalcinosis stage II/III was diagnosed at a young age. So far, her renal function remains normal. During the last 18 months symptomatic hypocalcemic episodes have become more frequent despite increased calcium and calcitriol doses. Continuous r...

Familial Male-limited Precocious Puberty is a rare form of gonadotropin-independent precocious puberty. It is inherited in an autosomal dominant manner and it is caused by mutation in the LH/chorionic gonadotropin receptor (LHCGR) that promotes the production of cAMP without the hormone ligand, causing increased androgen production that determines the onset of puberty. The prevalence reported is less than 1/ 1 000 000. As there are few cases reported in the literature, informa...

Background: Jansen de Vries Syndrome is a rare autosomal dominant neurodevelopmental condition characterized by delayed psychomotor development, dysmorphic features, behavioural problems and short stature. First described in 2017, the disorder is attributed to pathogenic variants in Exons 5 and 6 of the of the protein phosphatase magnesium-dependent 1D (PPM1D) gene. The syndrome has been identified in 26 countries worldwide so far and it could be associated wi...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive genetic disease. Simple virilizing (SV) - CAH in boys is characterised by accelerated longitudinal growth, penile growth, pubic and axillary hair growth and aromatic body odor. More often these patients have advanced bone age (BA) which limits their available time to grow and leads to near adult height below the average of the normal population. Longstanding and...

Background: X-linked hypophosphatemia (XLH) is a rare metabolic bone disease which is caused by inactivating mutations in Phosphate-regulating neutral endopeptidase, X-linked (PHEX). Due to dysregulation of Fibroblast growth factor 23 (FGF-23), increased systemic levels of FGF-23 lead to chronic renal phosphate wasting and to impaired activation of 25OH-Vitamin D (25OHD). As a result, patients suffer from multiple musculoskeletal symptoms such as long bone def...

Background: It is often difficult to establish whether hyperthyrotropinemia in preterm newborn is a simple physiologic energy sparing phenomenon or a true hypothyroidism requiring replacement treatment.Objective and hypotheses: This study aimed to find in what extent thyroid function in the preterm newborn can be influenced by clinical characteristics and complications.Method: We studied 35 preterm newborn, gestational age (GA) 32....

Background: GH promotes longitudinal growth and bone modeling/remodeling. The bone formation markers intact amino-terminal propeptide of type 1 procollagen (PINP), bone-specific alkaline phosphatase (BALP), and osteocalcin reflect different stages in bone formation, i.e. proliferation with collagen synthesis, matrix maturation, and mineralization.Objective: The purpose was to study the time course of different bone formation markers during GH treatment i...

Background: McCune–Albright syndrome (MAS) is defined by skin, bone and glands disorders, due to activating mutations in the GNAS1. Clinical presentation is heterogeneous. Reports about GH excess in MAS patients are scarce.Case report: We present the case of an 8-year-old male, previously diagnosed with mono-ostotic fibrous dysplasia of the skull, referred due to signs of pubertal development since the age of 6. The patient presented only 1...