hrp0095rfc6.5 | Sex Development and Gonads | ESPE2022

The effect of GnRHa and testosterone treatment on growth in trans boys

Willemsen Lieve , Boogers Lidewij , Wiepjes Chantal , van Trotsenburg Paul , Klink Daniel , den Heijer Martin , Hannema Sabine

Background: Pubertal growth and adult height are important to many transgender adolescents undergoing medical transition. However, few studies are available on the impact of puberty suppression (PS) with GnRH analogues (GnRHa) and hormonal therapy (HT) with testosterone on growth. In this longitudinal cohort study, we investigated the effect of PS and HT on growth and adult height in transgender boys.Methods: A total of ...

hrp0084p3-1133 | Puberty | ESPE2015

Clinical Characteristics of Girls with Atypical Precocious Puberty

Mawer Laura , Willemsen Ruben

Background: Precocious puberty, pubertal development in girls before 8 years, has considerable biological, psychosocial, and long-term health implications. It is classically ascribed to the premature activation of the hypothalamic-pituitary–gonadal axis, and hence an LH response >5 U/l in the LHRH test. Whilst this group of patients is well understood, there is a paucity of literature characterising patients who show pubertal development not driven by LH, atypical pre...

hrp0095p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Diagnostic and management practices of girls presenting with polycystic ovary syndrome (PCOS)-like symptoms to a tertiary paediatric endocrine clinic.

Solanas Martín Blanca , R. Howard Sasha , R. Hughes Claire , L. Storr Helen , H. Willemsen Ruben

Background: Polycystic ovary syndrome (PCOS) continues to be a diagnostic challenge in adolescent girls. Symptoms like oligomenorrhea and acne, and polycystic ovarian morphology on ultrasound can be normal variants in adolescents. In addition to diagnostic difficulties, there is lack of randomized controlled trials for PCOS treatments specific to adolescents. Current guidelines for diagnosis and management of PCOS in adolescents have large variations and rely ...

hrp0086fc9.5 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Evaluation of a Novel Method to Detect Residual ß-Cell Function by Dried Blood Spots in Children and Adolescents with a Recent Diagnosis of Type 1 Diabetes

Willemsen Ruben , Burling Keith , Ackland Fran , Edge Julie , Diaz Renuka , Barker Peter , Guy Catherine , Dunger David

Background: The majority of drug developments in type 1 diabetes (T1D) are aimed at preventing decline of beta cell function (BCF), as this has been associated with better glycaemic control and fewer long-term complications. Traditionally, BCF is evaluated by the C-peptide response to the labour-intensive mixed-meal-tolerance-test (MMTT), but there’s a need for a more practical alternative. We developed a new method to measure C-peptide in ‘dried blood spots’ (D...

hrp0082fc11.4 | Pituitary | ESPE2014

Management of Hyperhydration in a Child with Syndrome of Inappropriate Antidiuretic Hormone Secretion (Siadh) Using a Selective Vasopresin Receptor Agonist

Delgado-Carballar Violeta , Thankamony Ajay , Willemsen Ruben , Elleri Daniela , Dunger David

Background: Management of SIADH is challenging and no optimal therapies are available in children. We present a case of an 11 years old boy with severe SIADH resistant to 30% fluid restriction in the context of an intracranial suprasellar high grade B-cell lymphoma who requires hyperhydration for chemotherapy protocol. Tolvaptan is an oral highly selective arginine vasopressin V2 receptor antagonist, which has been approved for use in SIADH in adults.Obj...

hrp0097p1-146 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Evaluation of pubertal suppression in adolescents with gender dysphoria in different Tanner stadia

Becking-Malpasso Karlijn , Lahaije Fleur , Levels Willemien , Claahsen Hedi

Background: Gonadotropin-releasing hormone agonists (GnRHa) are common treatment in adolescents with gender dysphoria to prevent development of unwanted physical changes. However, the safe use of GnRHa is debated in the media and objective literature is sparse. Specifically, there is a lack of literature comparing between different Tanner stadia, since it is debatable whether GnRHa treatment is effective in adolescents who have almost gone through puberty (Tan...

hrp0094fc5.5 | Sex Development and Gender Incongruence | ESPE2021

Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism

Grijp Celien , Tavernier Simon , Neirinck Jana , Abdulhadi-Atwan Maha , Van De Velde Julie , Baetens Dorien , Verdin Hannah , Morbee Lieve , De Baere Elfride , Zangen David , Bonroy Carolien , Van Bever Yolande , Bruggenwirth Hennie , Vermont Clementien , Hannema Sabine , De Rijke Yolanda , Schelstraete Petra , Haerynck Filomeen , Cools Martine ,

Background: Hetero- and homozygous mutations in Steroidogenic Factor1 (SF1, NR5A1) cause 46,XY and 46,XX disorders of sex development (DSD), azoospermia, and primary ovarian insufficiency. NR5A1 is also involved in embryonic spleen development, by transactivation of T-cell Leukemia Homeobox 1 (TLX1). Hypo- or asplenism have occasionally been observed in DSD patients with NR5A1 mutations.<p clas...