hrp0097p1-224 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Metaphyseal Dysplasia, Spahr Type: 12-Year Follow-up

Özdem&idot;r Uslu Zülal , Muratoğlu Şah&idot;n Nursel , Akin Agah , Tuğçe Tunca Küçükal&idot; Elif , Çet&idot;nkaya Semra

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...

hrp0097p2-25 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Coexistence of Pituitary Stalk Interruption Syndrome, Sacrococcygeal Teratoma and Horseshoe Kidney

ÖzdemİR Uslu Zülal , Akin Agah , Tuğçe Tunca Küçükal&idot; Elif , Muratoğlu Şah&idot;n Nursel , Çet&idot;nkaya Semra

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...