hrp0086p2-p685 | Growth P2 | ESPE2016

Congenital Hypopituitarism and Giant Cell Hepatitis in a Two-Months-Old Boy

Skorodok Yulia , Arestova Anzhelika , Kazachenko Natalia , Mullachmetova Zuhra , Ivanov Dmitriy

Background: Congenital hypopituitarism (CH) in the neonate which manifests as the deficiency of one or more pituitary hormones can be presented by a highly variable phenotype. Either as isolated hypopituitarism or with associated developmental defects such as ocular, midline, and genital abnormalities. Mutations in genes encoding for a number of transcription factors have been described in a minority of patients with CH. This indicats that further genes remain to be identified...

hrp0082p3-d1-902 | Pituitary | ESPE2014

A Case of Congenital Isolated ACTH Deficiency due to tbx19 Gene Mutation

Kazachenko Natalya , Tiulpakov Anatoly , Skorodok Yulia , Ivanov Dmitry , Mullakhmetova Zukhra

Objective: To characterise clinical presentation of congenital isolated ACTH deficiency.Methods and results: Clinical and anthropometric data were obtained. Biochemical liver function parameters, blood glucose, insulin, TSH, free thyroxin (FT4), GH, cortisol, and ACTH levels were analyzed. POMC and TBX19 genes were analysed by Sanger sequencing. The girl was born at full-term with normal weight and length. The parents are cousins. At birth cra...

hrp0092p2-221 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Case of Congenital Hypopituitarism Due to Mutation POU1F1 in 3 Azerbaijani Newborn Boys

Arestova Anzhelika , Skorodok Yulia , Ioffe Irina , Kazachenko Natalia , Turkunova Maria , Ivanov Dmitry , Vorozhko Oksana , Filatova Natalia

Background: Growth hormone deficiency in conjunction with the function loss of other anterior pituitary hormones is called combined pituitary hormone deficiency (CPHD). The most common congenital CPHD is caused by mutations in genes: PROP1, POU1F1, HESX1, LHX3, LHX4, OTX2, GLI2, and SOX3. POU1F1 mutations are extremely rare among the Indo-European ethnic type (1% of all cases of congenital hypopituitarism) and more common among the Turkic peoples (7.3%...

hrp0092p1-361 | GH and IGFs (2) | ESPE2019

Long-Term Safety of a Once-Weekly Somatrogon (hGH-CTP): 4-Year Results of a Phase 2 Extension Study in Children with Growth Hormone Deficiency

Zielinska Nataliya , Skorodok Yulia , Malievsky Oleg , Iotova Violeta , Rosenfeld Ron G. , Zadik Zvi , Vander Shelly , Pastrak Aleksandra

Background: Once-daily growth hormone (GH) therapy is an effective treatment for children with growth hormone deficiency (GHD), but compliance wanes with ongoing treatment. A once -weekly GH, somatrogon (hGH-CTP), is being developed to reduce the treatment burden of daily dosing for children and caregivers and potentially improve compliance and long-term efficacy. The impact of once-weekly somatrogon on long-term safety, local tolerability and immunogenicity w...