hrp0098p2-357 | Late Breaking | ESPE2024

Real-world IGF-1 Variations & Its Management in Children on Recombinant Human Growth Hormone (rhGH) Therapy (RIGHT Study)

Ching Chen Suet , Alimussina Malika , Koley Sanhita , Shepherd Sheila , Eid Al-Agha Abdulmoein , Amin Nadia , Atapattu Navoda , Chen JiaJia , Deyanova Yana , Fu Antony , Højby Michael , Augusto de Lima Jorge Alexander , Iotova Violeta , Januś Dominika , Markosyan Renata , S. Miller Bradley , Savendahl Lars , Nimali Seneviratne Sumudu , Guftar Shaikh M , Shenoy Savitha , J W Tack Lloyd , Wasniewska Malgorzata , Faisal Ahmed S

Aim: Serum IGF-1 is widely advocated as a tool for monitoring adherence, safety and effectiveness of recombinant human growth hormone (rhGH). However, there is a need to understand the real-world variations in IGF-1 levels in children on rhGH and the management of abnormal IGF-1 levels in routine clinical practice.Method: Centres participating in the Global Registry for Novel Therapies in Rare Bone and Endocrine Conditio...

hrp0089p1-p083 | Diabetes & Insulin P1 | ESPE2018

HERV-W-Env Protein Expression in Pediatric Type 1 Diabetes Patients

Bouthors Therese , Elowe-Gruau Eglantine , Diaz-Escagedo Patricia , Antoniou Maria-Christina , Stoppa-Vaucher Sophie , Levet Sandrine , Medina Julie , Demolder Amandine , Perron Herve , Hauschild Michael

Introduction: The envelope protein of Human Endogenous Retrovirus type W (HERV-W-Env) has been shown to be associated with type 1 diabetes (T1D) pathogenesis in adults patients. This protein is expressed in pancreas of T1D patients and it seems to correlate with macrophage infiltrations. In vitro and in vivo studies have demonstrated that HERV-W-Env inhibits insulin secretion and promotes hyperglycemia. Furthermore, HERV could be implicated in other auto-immune disorders. The ...

hrp0095t18 | Section | ESPE2022

SF1next study: spectrum of SF-1/NR5A1 gene variants in this large international cohort

Sommer Grit , Tack Lloyd , Cools Martine , Flück Christa , Study Group SF1next

Background: Loss-of-function variants in the NR5A1 gene are frequent causes of 46,XY differences of sex development (DSD). To date, the Human Gene Mutation Database contains 291 NR5A1 variants, most of which are missense (69%). Mouse models demonstrated the effect of loss of SF-1 on sex development, but the interactome of SF-1 is huge and an explanation for the broad phenotype is still missing. Controversies exist as: a) in vitro transactivation assays of NR5A...

hrp0092rfc8.6 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Growth, Pubertal Course and Long-Term Outcome of 46,XY Boys Born with Atypical Genitalia and Low Birthweight

Tack Lloyd , Straaten Saskia van der , Cools Martine , consortium On behalf of the I-DSD

Introduction: Boys born small for gestational age (SGA) often have undermasculinized genitalia. Little is known about the pubertal development and gonadal function on a longer-term in this specific group of males.Aims: To determine the (pubertal) development and long-term urological and endocrine outcome of undermasculinized boys born SGA compared to undervirilized boys born appropriate for gestational age (AGA).<p c...

hrp0092p1-171 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Evaluation of Bone Health in Adolescents and Young Adults After Allogeneic Human Stem Cell Transplantation in Childhood: A Single Center Cross-Sectional Study

De Waele Kathleen , Tack Lloyd , Bordon Victoria , Van Lancker Sophie , Dhooge Catharina , Cools Martine

Introduction: Hormonal deficits are well known complications after allogeneic human stem cell transplantation (alloHSCT) in childhood and treated according to existing guidelines. It is assumed that bone mass and strength accrual during puberty is also often impaired, due to toxic therapy and prolonged inactivity, but data on bone geometry and strength are scare in this particular group.Objective/Patients and Methods: Cr...

hrp0086p1-p366 | Gonads &amp; DSD P1 | ESPE2016

Consecutive Lynestrenol and Cross-Sex Hormone Treatment in Biological Female Adolescents with Gender Dysphoria: A Retrospective Analysis

Tack Lloyd , Craen Margarita , Dhondt Karlien , Vanden Bossche Heidi , Laridaen Jolien , Cools Martine

Background: Progestins such as lynestrenol (L) can be used in female to male (FtM) adolescents with gender dysphoria (GD) who have advanced pubertal development to reduce the psychological burden of menstruation. L can later be combined with cross-sex hormones (testosterone esters) (L+T). L is much cheaper and easier to administer than GnRHa. To date, few data exist on the (side) effects of progestins for this indication.Objective and hypotheses: To repo...

hrp0086p1-p372 | Gonads &amp; DSD P1 | ESPE2016

Effects and Side Effects of Cyproterone Acetate Alone and in Combination with Estrogens in Natal Male Adolescents with Gender Dysphoria

Tack Lloyd , Craen Margarita , Dhondt Karlien , Bossche Heidi Vanden , Laridaen Jolien , Cools Martine

Background: Male to female (MtF) gender dysphoric adolescents with advanced pubertal development can be treated with antiandrogenic progestins such as cyproterone acetate (CA). CA is much cheaper and easier to administer than GnRHa and can later be combined with cross-sex hormones (17β-estradiol) (CA+E). To date, few data exist on the (side) effects of progestins for this indication.Objective and hypotheses: To report the effects of consecutive CA a...

hrp0095fc6.5 | Sex Development and Gonads | ESPE2022

Phenotypes in a large international cohort of individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Martinez de Lapiscina Idoia , Tack Lloyd , Cools Martine , E Flück Christa , study group SF1next

Background: Loss of function variants in Steroidogenic Factor 1 (NR5A1/SF-1) lead to a broad spectrum of phenotypes, but data on the whole picture of phenotypes are currently lacking. We aimed to investigate the phenotype of individuals with SF-1 variants in a large international cohort.Methods: We identified the individuals through the international I-DSD network and through contacting researchers from previous publicat...

hrp0092p2-105 | Fat, Metabolism and Obesity | ESPE2019

Cardiopulmonary exercise testing, body composition and metabolic status in young adults after allogeneic human stem cell transplantation for hematological malignancy in childhood

De Waele Kathleen , Tack Lloyd , Coomans Ilse , Dhooge Catharina , Bordon Victoria , Toye Kaatje , Cools Martine , Vandekerckhove Kristof

Introduction: Well-known long-term complications of alloHSCT in childhood include endocrine system damage and secondary malignancies. In addition, adults surviving childhood alloHSCT are at risk of cardiovascular (CV) and metabolic disturbances. Long-term data of physical fitness in correlation with metabolic status are scarce in this particular group.Objective/Patients and Methods: Cross-sectional investigation of exerc...

hrp0086p1-p343 | Gonads &amp; DSD P1 | ESPE2016

Evolution of Bone Mass and Body Composition in Gender Dysphoric Adolescents Treated with Progestins to Suppress Endogenous Hormones

Tack Lloyd , Craen Margarita , Lapauw Bruno , Goemaere Stefan , Toye Kaatje , Kaufman Jean-Marc , Vandewalle Sara , Zmierczak Hans-Georg , Cools Martine

Background: In gender dysphoric (GD) adolescents with advanced pubertal development, psychological relief can be attained with progestins, which are much cheaper and easier to administer than GnRHa. Moreover, use of GnRHa has been shown to interfere with pubertal bone mass accrual. To date, few data exist on the effects of progestins on body composition (BC) and bone parameters in this population.Objective and hypotheses: To explore the effects of pro- a...