hrp0095p2-259 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A case of 46, XX female with short stature, primary ovarian insufficiency and kidney dystopia due to two novel mutations in MCM8 gene

Kvaratskhelia Ekaterine , Tkemaladze Tinatin , Chipashvili Mariam , Jorbenadze Maka , Chitaia Guram

Primary ovarian insufficiency (POI) affects about 1% of females under 40 and represents a major cause of female infertility. Approximately one third of POI are of genetic in origin, including FMR1 premutation, Turner syndrome and approximately 60 other genes, involved in development, hormonal signaling, cell division and survival, immunity, and metabolism. MCM8 is a recently discovered gene that plays an important role in homologous recombination and DNA repair and only up to ...

hrp0082p3-d3-922 | Pituitary (1) | ESPE2014

A Case of Combined Pituitary Hormone Deficiency (CPHD) due to Anterior Pituitary Hypoplasia

Kvaratskhelia Ekaterine , Rekhviashvili Maia , Metreveli David , Willig Rolf Peter

Background: Multiple anterior pituitary hormone deficiency (MPHD) may present in the newborn period or in early infancy with hypoglycemia, prolonged cholestatic jaundice micropenis, undescended testes due to GH, ACTH, and LH deficiency. Central hypothyroidism is becoming manifest later, less severe than primary hypothyroidism, usually without intellectual impairment. A male patient was admitted to our clinic with severe short stature at the age of 2 years, born with normal len...