hrp0089s2.2 | Gonads/DSD | ESPE2018

Disruption of Testicular Development and Function

Mitchell Rod

Male reproductive disorders are common and there is evidence for increasing incidence over recent decades. These disorders may present at birth (hypospadias and cryptorchidism) or in adulthood (infertility, testicular cancer) and can arise as a result of underlying genetic abnormalities or following environmental (e.g. phthalates) and pharmaceutical (e.g. analgesics, chemotherapy) exposures that impact fetal, neonatal of prepubertal testicular development. Understanding the re...

hrp0095wg1.1 | ESPE Working Group on Disorders of Sex Development (DSD) Symposium | ESPE2022

Fertility Preservation in Experimental Models in DSD

Rod Mitchell

The impact of DSD on future fertility is dependent on several factors. The key determinant of fertility potential is the status of gonadal development and function, and whether the individual has ovarian tissue with viable oocytes, or testicular tissue capable of producing functional sperm. Fertility risk will be primarily determined by the underlying diagnosis, modified by several additional factors. Whilst fertility preservation options are well established for many patient ...

hrp0095p1-374 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Is testosterone supplementation required after induction of puberty in Duchenne muscular dystrophy? A follow-up study

Wood Claire , Mitchell Rod , Guglieri Michela , Straub Volker , Cheetham Tim

Introduction: Pharmacological doses of glucocorticoids (GC) reduce inflammation and preserve muscle function in boys with Duchenne muscular dystrophy (DMD) but cause almost universal pubertal delay. Long term consequences of GC on androgen status in young men who have received testosterone for pubertal induction remain unknown.Objective: To determine the longer-term outcome after a 2-year pubertal induction regimen using...

hrp0082fc6.6 | Gonads & DSD | ESPE2014

Effects of Exposure to the Endocrine disruptor di(n-butyl) Phthalate on Testicular Dysgenesis Fetal Germ Cell Development in the Rat and in Human Fetal Testis

Mitchell Rod , van den Driesche Sander , Hrabalkova Lenka , Anderson Richard , McKinnell Chris , MacPherson Sheila , Calarrao Ana , Sharpe Richard

Background: Phthalate exposure results in endocrine disruption by inhibiting steroidogenesis, inducing focal dysgenesis and disrupting germ cell development in the rat fetal testis. Whilst phthalate exposure does not reduce testosterone production by the human fetal testis, its effects on germ cells and induction of dysgenetic areas in the developing human testis are less well described.Objective and Hypotheses: To determine the effects of phthalate expo...

hrp0089p1-p216 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

SDgeneMatch, A New Tool to Aid the Identification of the Genetic Causes of DSD

De Ridder Jeroen , Bashamboo Anu , Baere Elfride De , Krone Nils , Mitchell Rod , Meyts Ewa Rajpert-De , Tobias Ed , Looijenga Leendert , Achermann John , Werner Ralf , Ahmed Faisal , Hiort Olaf , Greenfiled Andy , McElreavey Ken

Currently, the majority of patients with DSD do not have a molecular diagnosis. Although high throughput sequencing is having an impact on the clinical diagnosis of DSD the accurate interpretation genomic datasets of the identification of new gene mutations causing DSD is challenging. This is due to emerging evidence that DSD may be caused by mutations in many different genes and the prevalence of mutations in a single gene may be very low. As larger number of DSD patients are...

hrp0094fc8.3 | Neuroendocrinology | ESPE2021

A novel clinical risk score that can accurately predict recurrence of craniopharyngioma - a multicentre cohort study

Kyprianou Nikolina , Blackburn James , Tan Rachael , Bulfamante Gaetano , Massa Valentina , Roncaroli Federico , Ribalta Teresa , Evanson Jane , Korbonits Marta , Dattani Mehul , Rai Ashutosh , Gupta Prakamya , Dutta Pinaki , Bhansali Anil , Salunke Pravin , Pani Danda , Skoric Tanja , Kastelan Darko , Gnanalingham Kanna , Mitchell Rod , Bulfamante Antonio , Argente Jesus , Goycoolea Nicolas , Torales Jorge , Biagetti Betina , Audi Laura , Resmini Eugenia , Webb Susan , Kapoor Ritika , Chandler Christopher , Zebian Bassel , Thomas Nick , Sampron Nicolas , Paraskevopoulos Dimitrios , Preda Cristina , Ahmad Amar , Pease Gevers Evelien F , Gaston-Massuet Carles ,

Background: Recurrence of craniopharyngiomas influences mortality. Apart from the extent of surgical resection, few clinical parameters have been consistently shown to be associated with recurrence. Radical resection is difficult due to infiltration of surrounding tissue and unacceptable morbidity. Predictors of recurrence are therefore needed.Aim: To establish a multinational cohort of patients with craniopharyngioma an...