ESPE Abstracts

Introduction: Metaphyseal dysplasia, Spahr type(MDST) is an autosomal recessive primary skeletal dysplasia characterized by postnatal short stature, progressive bowing deformity, waddling gait, with an incidence of <1/1 million. MDST is caused by mutations in Matrix metallopeptidase 13(MMP13) gene. The MMP13 plays a role in the degradation of extracellular matrix proteins. It is required for embryonic bone development and ossification. It may be involved in...

Purpose: Peripheral precocious puberty is a variant of puberty in which gender characters emerge independent of the hypothalamo-pituitary axis. It may occur with ovarian-testicular-adrenal pathologies, hCG-secreting tumors, Mc. Cune Albright Syndrome, or an endocrine disruptor that may be a source of exogenous estrogen. In premature menarche, which is the other variant of early puberty, prepubertal uterine bleeding is observed independently of other findings o...

Introduction: Data on atypia of undetermined significance (AUS) in thyroid fine needle aspiration biopsy in children is limited. The American Thyroid Association (ATA) pediatric guideline recommends surgery, while the European Thyroid Association (ETA) recommends fine-needle aspiration biopsy (FNAB) repetition after 6 months. The aimof this study is to determine the markers of malignancy in AUS in children and to discuss the approach to AUS.<p class="abste...

Introduction: Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary gland manifesting with varying degree of anterior pituitary insufficiency. It is presented with isolated growth hormone deficiency or multiple anterior pituitary hormone deficiencies. It is characterized by the triad of thin or interrupted pituitary stalk, hypoplasia or aplasia of adenohypophysis and ectopic or absent neurohypophysis. It is manifested with hyp...