hrp0084fc4.3 | Growth | ESPE2015

An Updated and Final Analysis of a Randomised Placebo-controlled Trial of the Effect of Oxandrolone and Timing of Pubertal Induction on Final Height in Turner Syndrome

Gault Emma-Jane , Cole Tim J , Perry Rebecca J , Casey Sarah , Paterson Wendy F , Hindmarsh Peter C , Betts Peter , Dunger David B , Donaldson Malcolm D C

Background: While GH therapy forms the mainstay of growth promoting treatment for Turner syndrome (TS), adjunctive use of oxandrolone and optimal timing of pubertal induction remain controversial. The previously published interim analysis of this randomised double-blind placebo-controlled trial demonstrated that oxandrolone and pubertal induction at 14y vs 12y significantly increased final height. However, these effects were not additive.Objective: To up...

hrp0084fc13.6 | Thyroid | ESPE2015

TRIAC Treatment of Allan-Herndon-Dudley Syndrome (AHDS) due to Defects in Thyroid Hormone Transporter MCT8

Iglesias A , Gomez-Gila A L , Casano P , del Pozo J , de Mingo M C , Pons N , Calvo F , Obregon M J , Bernal J , Moreno J C

Background: AHDS is a devastating disease caused by defects in the thyroid hormone (TH) transporter MCT8. Endocrine expression is heralded by systemic hyperthyroidism with elevated serum T3, mildly increased TSH and decreased T4. However, the brain is hypothyroid, causing severe psychomotor retardation. Therapeutic attempts with PTU+levothyroxine or the T3-analogue DITPA could normalize TH derangements but without any neurological improvement. ...

hrp0094fc5.2 | Sex Development and Gender Incongruence | ESPE2021

Unexpected impact of sex hormones on B-cells in trans- and cis-gendered healthy young people

Peckham Hannah , Rosser Elizabeth C , Radziszewska Anna , Robinson George , Martin-Gutierrez Lucia , De Gruijter Nina M , Jury Elizabeth C , Butler Gary E , Ciurtin Coziana ,

Background: Cis-gender females are known to mount stronger immune responses to invading pathogens or vaccines than cis-gender males. However, this is also associated with increased risk of autoimmunity. Little is known about the immunophenotypes of transgender individuals on gender-affirming hormonal treatment, despite growing evidence that hormones influence the immune system. Via the process of class-switch recombination (CSR), B-cell immunoglobulin isotype ...

hrp0095p1-167 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A PROP1 Compound Heterozygosity with Pituitary Enlargement

Gucev Zoran , Janchevska Aleksandra , Beqiri-Jashari Ardiana , Plasevska-Karanfilska Dijana , Trpkovska Jovana , Noveski Predrag

A PROP1 homozygous mutation was found in an 8 years old boy who was referred for fatigue, general slowness, dry skin, normal weight and slow growth. His T4 and TSH were low, while tests of pituitary reserve were normal as well as the concentrations of ACTH and cortisol. FSH/LH/T/E were in the pre-pubertal range. TRH test resulted in no increased TSH and T4, confirming the pituitary origin of the defect. MRI of the pituitary hypothalamic region revealed an enlargement of the an...

hrp0095p2-140 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

POU1F1 gene mutation as a cause of central hypothyroidism and growth hormone deficiency: a case report

Sawicka Beata , Borysewicz-Sańczyk Hanna , Sztatyłowicz Aleksandra , Michalak Justyna , Stożek Karolina , Bossowski Artur

Background: Thyroid hormones are necessary for normal child development. Hypothyroidism, associated with insufficient amounts of free triiodothyronine and thyroxine, may not only cause poor growth rate, but also results in impaired central nervous system development. In Poland, newborn screening for congenital primary hypothyroidism, the incidence of which is reported to be 1:2500- 1:4000 births, has been performed for many years. Secondary hypothyroidism, cau...

hrp0095p2-150 | GH and IGFs | ESPE2022

Alterations in stem cell populations during rIgF-1 (Increlex) therapy in patients with SPIGF1D

Bossowski Artur , Grubczak Kamil , Stożek Karolina , Starosz Aleksandra , Bossowski Filip , Moniuszko Marcin

Pathway involving insulin-like growth factor 1 (IGF-1) plays significant role in growth and development. Crucial role of IGF-1 was discovered inter alia through studies involving deficient patients with short stature, including SPIGFD individuals. Noteworthy, despite disturbances in proper growth, elevated values for selected stem cell populations were found in IGF-1 deficient patients. Therefore, here we focused on investigating role of these cells - very small embryonic-like...

hrp0095p2-227 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Growth Hormone Deficiency in A Boy with Duplication 5q35.2q35.3

Janchevska Aleksandra , Plasheska-Karanfilska Dijana , Jordanova Olivera , Beqiri-Jashari Ardiana , Tasic Velibor , Gucev Zoran

Introduction: The genomic disorders caused by rearrangements in region 5q35, including the NSD1 (nuclear receptor SET domain containing protein-1) gene have various phenotypes depending on presence of deletions, duplications or inversions. Patients carrying microduplication have microcephaly, short stature, and mild to moderate intellectual delay or learning disability.Patients and methods: A six-year-old boy wa...

hrp0095p2-279 | Thyroid | ESPE2022

Evaluating the role of circulating dendritic cells in methimazole-treated pediatric Graves’ disease patients

Bossowski Artur , Grubczak Kamil , Starosz Aleksandra , Stozek Karolina , Bossowski Filip , Moniuszko Marcin

Graves’ disease (GD) is hyperthyroidism associated with organ-specific autoimmune inflammation. GD occurs more frequently in adults than in children, however, pediatric patients are a therapeutic challenge due to cycles of remissions and relapses requiring constant monitoring at every stage of treatment administered. Dendritic cells (DCs) are considered a link between innate and adaptive immunity. DCs as antigen-presenting cells (APCs) are involved in antigen presentatio...

hrp0095p2-281 | Thyroid | ESPE2022

Effects of therapy on Th1, Th17, Th22 and Bregs in pediatric patients with Graves' disease

Stożek Karolina , Grubczak Kamil , Starosz Aleksandra , Bossowski Filip , Moniuszko Marcin , Bossowski Artur

Introduction: The precise pathogenesis of Graves’ disease (GD) still remains unclear, especially in the field of immunological aspects. Thyroid infiltration by reactive T and B lymphocytes plays a crucial role in the course of autoimmune thyroid diseases (ATD). Previous pattern of inflammation process was characterized by the presence of two antagonistic groups of T effector or also called- helper cells: Th1 and Th2. Recently, more attention is paid to T...

hrp0089p2-p221 | GH & IGFs P2 | ESPE2018

Growth Hormone Treatment in Children Born Small for Gestational Age (SGA)

Janchevska Aleksandra , Krstevska-Konstantinova Marina , Jordanova Olivera , Tasevska-Rmush Liljana , Tasic Velibor , Gucev Zoran

Introduction: Growth failure is a common consequence in small for gestational age (SGA) children.Patients and methods: The growth patterns and serum insulin like growth factor 1 (IGF1) concentrations before and after the 1st year under GH treatment of 32 short stature SGA born children have been evaluated. In addition, we investigated the insulin like growth factor 1 receptor (IGF1R) exon 2 as a hotspot for IGF1R genetic alterations. It is of note that n...