ESPE Abstracts

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...

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...

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...

Background: The importance of vitamin D for skeletal health is well established and many recent reports indicate that vitamin D deficiency is linked to chronic diseases. Vitamin D status is defined by serum 25-hydroxyvitamin D (25(OH)D), and although there is no consensus on optimal levels of 25(OH)D concentrations of 50 nmol/l (20 ng/ml) meet the requirements in 97.5% of the population. In Sweden, sun cannot synthesize vitamin D during the winter, therefore supplementation is...

Background and aim: How gestational age and size at birth are related to the timing of puberty and the adult height of an individual is not well known. Children born small, either preterm or small for gestational age (SGA), are known to be shorter than their peers during childhood. Both adult height and pubertal timing depends on both genetical and environmental factors, have changed over time with broad individual variations. Previous studies have shown confl...

The CYP21A2 and the TNXB genes are highly homologous with their corresponding pseudogenes (CYP21A1P and TNXA), leading to frequent homologous recombination. The TNXB includes 43 exons, the mRNA encodes tenascin-X (TNX), an extracellular matrix glycoprotein, highly expressed in connective tissue.CAH patients with a "contiguous gene syndrome" comprising a deletion of both genes- CYP21A2 and TNXB have been described. Chimeric genes generated by larg...