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43rd Meeting of the British Society for Paediatric Endocrinology and Diabetes

e-Posters

Gonadal, DSD and reproduction

ea0039ep69 | Gonadal, DSD and reproduction | BSPED2015

Changes in body composition during late puberty. The effect of sudden sex hormone withdrawal

Ghelani Rahul , Lim Cheryl , Goedhardt Claire , Brain Caroline , Butler Gary , The Team

Aim: The sex hormones initiate profound physical and physiological changes during early puberty, but to what extent are they responsible for continuing the body composition changes of late adolescence? We aimed to examine the effect on body composition of sudden sex hormone withdrawal to gain insight into their action.Patients and Methods: Thirty six healthy phenotypically and chromosomally normal postpubertal individuals aged 15–17 years with gende...

ea0039ep70 | Gonadal, DSD and reproduction | BSPED2015

Chromosomal variations in children and adolescents with gender dysphoria: is routine karyotyping indicated?

Goedhardt Claire , Brain Caroline , Viner Russell , Butler Gary , Alvi Sabah , Mushtaq Talat , Walker Jenny , The Team

Background: Chromosome analysis is always indicated in disorders of sex development (DSD), but the need for karyotyping in gender dysphoria (GD) is less clear.Aims and objectives: We therefore aimed to review the place of routine chromosome analysis in the management of GD in children and adolescents.Patients and methods: Five hundred and twenty children and adolescents with GD have been referred at the time of reporting to the two...

ea0039ep71 | Gonadal, DSD and reproduction | BSPED2015

Standard GnRH analogue doses do not adequately suppress puberty in adolescent patients

Lam Francis , Besser Rachel , Goedhart Claire , Brain Caroline , Butler Gary

Introduction: Adolescents with persistent gender dysphoria (GD) receive GnRH analogues to achieve pubertal arrest. It is unclear whether this is adequate to achieve biochemical suppression of gonadotrophin (LH, FSH) and sex hormone production.Methods: Gonadotrophins, testosterone and oestradiol were measured in GD patients (15–18 years) before and after monthly Gonapeptyl treatment (3.75 mg i.m.). Patients administered other analogues and/or cross-s...

ea0039ep72 | Gonadal, DSD and reproduction | BSPED2015

The role of a next generation sequencing panel in the diagnostic pathway in disorders of sex development

Webb Emma A , Saraff Vrinda , Hughes Lowri , Allen S , Cole Tim , Dattani M T , Hughes I A , Kirk J M W , Fews G , Krone N P

Background: Accurate genetic diagnosis is essential in disorders of sex development (DSD), guiding medical management and enabling optimal personalized care delivery.Case presentation: Two siblings (I and II) with a family history of 17β-hydroxysteroid dehydroxygenase (17β-HSD3) deficiency presented postnatally with isolated labial swelling. Karyotype was 46,XY and urinary steroid profile (USP) normal. HCG-stimulated testosterone/androstenedion...

ea0039ep73 | Gonadal, DSD and reproduction | BSPED2015

Inter and intra-rater reliability of accuracy of testicular volume evaluation: a simulation study

Elder Charlotte , Sugathapala Shamani de Silva , Akbarian-Tefaghi Ladan , Langley Joe , Wright Neil

Background: Measuring testicular volumes by orchidometer is a standard method of pubertal staging in boys. A paucity of evidence exists as to its inter and intra-observer reliability and the impact of clinicians gender, experience and training on the accuracy of measurements. We are developing specifically engineered models with different testicular volumes to investigate inter and intra-observer reliability of testicular volume estimation for simulation training.<p class=...

ea0039ep74 | Gonadal, DSD and reproduction | BSPED2015

Mode of clinical presentation and delayed diagnosis of turner syndrome

Apperley Louise , Das Urmi , Ramakrishnan Renuka , Dharmaraj Poonam , Blair Jo , Didi Mohammed , Senniappan Senthil

Background: Early diagnosis of girls with turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or >two dysmorphic features (nail dysplasia, high arched palate, short fourth metacarpal or strabismus).Objectives: The aim of the study was to determine the age and clinical features...

ea0039ep75 | Gonadal, DSD and reproduction | BSPED2015

Intravaginal foreign body should be excluded in prepubertal cyclical vaginal bleeding without other evidence of precocious puberty

Upadrasta Swathi , Watson Lauren , Natarajan Anuja , Ng Sze May

Background: Isolated prepubertal vaginal bleeding can be secondary to various causes including Mullerian cyst, papilloma, foreign body and prepubertal menarche. There is no current consensus on the investigations for prepubertal girls with isolated vaginal bleeding with no other signs of precocious puberty.Objective: The objective of our study is to evaluate the factors associated with persistent isolated cyclical vaginal bleeding including clinical pres...

ea0039ep76 | Gonadal, DSD and reproduction | BSPED2015

Causes of precocious puberty in children referred to an Endocrine Unit in Northwest of Turkey

Kilavuz Sebile , Tutunculer Filiz , Dilek Emine , Bezen Digdem , Sut Necdet

Background: Although data from developed countries about precocious puberty (PP) are abundant, data from developing countries are scarce. The aim of our study was to analyze the frequency of the variants of PP in children who had applied to our department.Patients and methods: Retrospective analysis of 367 children (18 boys and 349 girls) with features of PP referred for evaluation to our clinic between the years 2006–2012 was performed.<p class...