hrp0084p1-157 | Miscelleaneous | ESPE2015

How do Adolescent Minors Banking Sperm Before Cancer Therapy Subsequently use the Fertility Service? A Post Banking Re-Evaluation

Pigot James , Michaelidou Maria , Williamson Elizabeth , Webb Alison , Gan Hoong-Wei , Spoudeas Helen

Background: Gonadotoxic cancer therapy may cause adult male infertility. We previously reported that, of 2/3rds of underage males agreeing to pre-treatment sperm cryopreservation before cancer treatment, 2/3rds succeeded.Objective and hypotheses: i) To evaluate how many patients banking sperm successfully (GP1) returned for post treatment re-evaluation compared with those who attempted but failed (GP2). ii) To compare intergroup survival and fertility ra...

hrp0089p2-p353 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Young Transgender People’s Attitudes to Fertility Preservation and Practice

Monti Elena , Walton-Betancourth Sandra , Wafa Raheala , Roberts Alice , Kleczewski Sara , Adu-Gyamfi Kirpal , Perkins Elaine , Williamson Elizabeth , Butler Gary

Background: GnRH analogue and subsequent oestradiol treatments are indicated to alleviate gender dysphoriain adolescent male to female young people (MtF; transgirls). Side effects include impairments in gonadal histology that may cause infertility or biological sterility. Current guidelines encourage professionals to address potential infertility risk and fertility preservation options with transgender youth and their families before starting these treatments.<p class="abs...

hrp0086p1-p363 | Gonads &amp; DSD P1 | ESPE2016

Mosaic Xq Partial Duplication Leading to Virilisation of an Adolescent Female

Baranowski Elizabeth , Chizo Agwu Juliana

Background: We present a 17-year-old female who presented with a 1 year history of hirsutism, male pattern baldness, marked cystic acne and mild cliteromegaly. She had her menarche at the age of 15 years and continued thereon to have a regular menstrual cycle. She was pubertal on examination (B3, P5, A5) with no neurological deficit.Objective and hypotheses: This female presented with marked clinical hyperandrogenism. We initially suspected polycystic ov...

hrp0089p2-p352 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A Systematic Review of Reported Outcomes for Hypospadias

Leunbach Tina Lund , O'Toole Stuart , Springer Alexander , Williamson Paula , Ahmed S Faisal

Introduction: The outcome of hypospadias is considered to be primarily dependent on the underlying aetiology, its surgical management and the duration of follow-up. However, currently, there is little consensus on what set of parameters are essential and clinically feasible for assessment of outcome.Aim: To facilitate the development of a core outcome set for hypospadias by assessment of the range of outcomes reported in boys undergoing surgery.<p cl...

hrp0086p2-p947 | Thyroid P2 | ESPE2016

Delayed Diagnosis of a TSH-Adenoma due to Coexisting Autoimmune Thyroid Disease

Crudo David , Constantacos Catherine , Walsh Elizabeth

Background: TSH-secreting pituitary adenomas are rare, accounting for less than 2% of all pituitary adenomas. Their diagnosis may be difficult when a coexistence of other diseases masks the typical clinical and biochemical manifestations of TSH-hypersecretion.Objective: To report a case of a TSH-adenoma without signs/symptoms of hyperthyroidism due to underlying autoimmune thyroid disease.Results: Patient is a 17 year old male who ...

hrp0084p3-1180 | Thyroid | ESPE2015

Outcome of Thyrotoxicosis in Childhood and Adolescence in a Geographically Define Area; a 24-Year Experience

Kourime Mariam , McGowan Sheena , Al-Towati Mabrouka , Ahmed Faisal , Stewart Graham , Williamson Scott , Hunter Ian , Donaldson Malcolm

Background: Paediatric thyrotoxicosis is both rarer and more severe than in adulthood, rendering management difficult, and often unsatisfactory.Objective: To review outcome in a geographically defined area between 1989 and 2013; hence to develop an algorithm for improved clinical care.Method: Retrospective case note review plus questionnaire to family doctor requesting update. GravesÂ’ disease (GD) was defined as positive TSH-R...

hrp0092p1-25 | Diabetes and Insulin | ESPE2019

Pathogenicity of GCK Gene Mutation c.364C>G (p.Leu122Val)

Crudo David , Walsh Elizabeth , Constantacos Cathrine , Hunter Janel

Background: Over 800 different mutations in GCK gene have been reported in the Human Gene Mutation Database, the vast majority of which result in monogenic diabetes (Maturity Onset Diabetes of the Young, MODY type 2). The missense mutation p.Leu122Val is listed in that database as "disease-causing". However, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain ...

hrp0092p1-35 | Diabetes and Insulin | ESPE2019

The Impact of CGM Availability: Real World Data From a Population Based Clinic

Sanderson Elaine , Smith Grant , Abraham Mary , Jones Timothy , Davis Elizabeth

Real-world studies reporting the impact of continuous glucose monitoring (CGM) in children with Type 1 diabetes (T1D) are limited. In April 2017 CGM became fully subsidised in Australia for children with T1D <21yrs. We report the impact of this in a large population based sample of paediatric diabetes (n=1093). Almost all (99%) children (age < 18yr) with diabetes in Western Australia attend a single paediatric diabetes centre.Pri...

hrp0092p1-427 | Thyroid (2) | ESPE2019

Acquired Hypothyroidism in a Toddler: An Unusual Presentation of Langerhans Cell Histiocytosis

Waldner Richelle , Rosolowsky Elizabeth , Girgis Safwat , Girgis Rose

Introduction: A 23-month-old male was admitted for evaluation of an enlarging neck mass, persistent rash, and periorbital edema.Case Description: The toddler had a strikingly large neck mass which had rapidly progressed over 1 month. He presented with a pustular and petechial rash primarily on his scalp which had been unresponsive to multiple treatment modalities. Initial work-up for his neck mass revealed a TSH of 19.7m...

hrp0092p3-234 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Diagnostic Dilemma in a 46 XY Female

Waldner Richelle , Rosolowsky Elizabeth , Caluseriu Oana , Grimbly Chelsey

Introduction: Disorders of sex development (DSD) are conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex. We present a case of a phenotypic 46 XY female with primary amenorrhea and full thelarche, presence of Mullerian structures, elevated testosterone with no virilization, and bilateral adnexal masses. Our differential diagnosis included Androgen Insensitivity and Gonadal Dysgenesis.Case Descriptio...