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Working towards convergence of the clinical management of differences of sex development/intersex conditions and the human rights framework : a case study
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- Journal Article
- A1
- open access
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development
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Ovotesticular difference of sex development : genetic background, histological features and clinical management
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- Journal Article
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- open access
Early puberty suppression and gender-affirming hormones do not alter final height in transgender adolescents
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- Journal Article
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Individuals with numerical and structural variations of sex chromosomes : interdisciplinary management with focus on fertility potential
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- Journal Article
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Benefits of whole exome sequencing to advance the genetic diagnosis in patients with differences (disorders) of sex development
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- Journal Article
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- open access
Reduced serum concentrations of biomarkers reflecting Leydig and Sertoli cell function in male patients with congenital adrenal hyperplasia
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- Journal Article
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- open access
Testosterone restores body composition, bone mass, and bone strength following early puberty suppression in a mouse model mimicking the clinical strategy in trans boys
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Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development : a cross-sectional study
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- Journal Article
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- open access
Efficacy and safety of a 4-year combination therapy of growth hormone and gonadotropin-releasing hormone analogue in pubertal girls with short predicted adult height
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- Journal Article
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Etiology, histology and long-term outcome of bilateral testicular regression: a large Belgian series
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- Journal Article
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- open access
Outcome of COVID-19 infections in patients with adrenal insufficiency and excess
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- Journal Article
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Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia
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- Journal Article
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Electronic reporting of rare endocrine conditions within a clinical network : results from the EuRRECa project
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- Journal Article
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Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia : a retrospective multicenter cohort study
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- Journal Article
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- open access
Impact of gender affirming treatment on bone health in transgender and gender diverse youth
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Long-term GnRHa use and bone health in transgender adolescents : can a mouse model inform clinical practice?
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Effects of long-term puberty suppression and gender-affirming hormones on body composition and metabolic profile in a preclinical mouse model and a cohort of transboys
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- Journal Article
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- open access
Endocrine outcome and seminal parameters in young adult men born with hypospadias : a cross-sectional cohort study
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Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development
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- Journal Article
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- open access
Treatment of congenital adrenal hyperplasia in children aged 0-3 years : a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure
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- Journal Article
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- open access
The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres
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- Journal Article
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- open access
Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe
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- Journal Article
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Multidisciplinary approach to the child with sex chromosomal mosaicism including a Y-containing cell line
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Hervorming van de geslachtsregistratie : suggesties UGent en UZ Gent
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- Journal Article
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- open access
ENDO-ERN expert opinion on the differential diagnosis of pubertal delay
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- Journal Article
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Patients with rare endocrine conditions have corresponding views on unmet needs in clinical research
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- Journal Article
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Approach to the virilizing girl at puberty
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- Journal Article
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Assessing the health-related management of people with differences of sex development
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- Journal Article
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- open access
Adolescent and young adult urogenital outcome following childhood hypospadias repair : perfection revisited
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Fertility and sexuality issues in congenital lifelong urology patients : male aspects
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Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism
(2021) HORMONE RESEARCH IN PAEDIATRICS. In Hormone Research in Paediatrics 94(supplement 1). p.42-43 -
- Journal Article
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- open access
Testosterone therapy and its monitoring in adolescent boys with hypogonadism : results of an international survey from the I-DSD Registry
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Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia
(2021) HORMONE RESEARCH IN PAEDIATRICS. In Hormone Research in Paediatrics 94(Supplement 1). p.69-70 -
- Journal Article
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- open access
International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia : data from the I-CAH registry
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- Journal Article
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- open access
Gonadectomy in conditions affecting sex development : a registry-based cohort study
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Rare and special robotic surgery indications in the pediatric population : ectopic organs and differences of sexual development
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Clinical findings and follow-up of 46,XY and 45,X/46,XY testicular dysgenesis
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Androgen receptor expression in preputial dartos tissue correlates with physiological androgen exposure in congenital malformations of the penis and in controls
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Parental stress, anxiety and trait mindfulness : associations with parent–child mealtime interactions in children with type 1 diabetes
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Psychosexual outcome, sexual function, and long-term satisfaction of adolescent and young adult men after childhood hypospadias repair
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- Journal Article
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Families with pediatric type 1 diabetes : a comparison with the general population on child well-being, parental distress, and parenting behavior
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Novel model to study the physiological effects of temporary or prolonged sex steroid deficiency in male mice
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- Journal Article
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- open access
The EuRRECa project as a model for data access and governance policies for rare disease registries that collect clinical outcomes
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- Journal Article
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Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development
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The External Genitalia Score (EGS) : a European multicenter validation study
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Real-world estimates of adrenal insufficiency–related adverse events in children with congenital adrenal hyperplasia
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45,X/46,XY gonadal dysgenesis, 46,XX/46,XY chimerism (and variants), and 46,XX testicular and ovotesticular DSD
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Update on the genetics of differences of sex development (DSD)
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De 'differences of sex development' in een notendop
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Atypie du développement génital et risque tumoral : synthèse de la réunion scientifique du 25 mai 2018 organisée par le ' Centre de référence des maladies rares du développement génital du fœtus à l’adulte '
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- Journal Article
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Mindfulness, worries, and parenting in parents of children with type 1 diabetes
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Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD) : recommendations from the COST action DSDnet
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Sexual and fertility issues in congenital lifelong urology patients
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Addressing gaps in care of people with conditions affecting sex development and maturation
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- Journal Article
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- open access
The current landscape of European registries for rare endocrine conditions
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Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis
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- Journal Article
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- open access
Evaluation of DSD training schools organized by cost action BM1303 'DSDnet'
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Histological assessment of gonads in DSD : relevance for clinical management
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Proandrogenic and antiandrogenic progestins in transgender youth : differential effects on body composition and bone metabolism
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- Journal Article
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- open access
Genetics in endocrinology : approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD) : position paper of EU COST Action BM 1303 ‘DSDnet’
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- Journal Article
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- open access
Caring for individuals with a difference of sex development (DSD) : a Consensus Statement
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- Journal Article
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Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development
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Epigenetic repression of androgen receptor transcription in mutation-negative androgen insensitivity syndrome (AIS Type II)
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- Journal Article
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- open access
Involving Individuals with disorders of sex development and their parents in exploring new models of shared learning : proceedings from a dsdnet cost action workshop
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Management of gonads in adults with androgen insensitivity : an international survey
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Update on the pathophysiology and risk factors for the development of malignant testicular germ cell tumors in complete androgen insensitivity syndrome
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Een holistisch zorgbeleid voor Differences of Sex Development
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Genetic defects of female sexual differentiation
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Non-coding variation in disorders of sex development
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Consecutive cyproterone acetate and estradiol treatment in late-pubertal transgender female adolescents
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- Journal Article
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- open access
Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis
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- Journal Article
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- open access
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
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Conditional islet hypovascularisation does not preclude beta cell expansion during pregnancy in mice
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Diagnostiek bij disorders/differences of sex development (dsd)
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SF1 and spleen development : new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient's management
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Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity : prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling
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Birth weight in different etiologies of disorders of sex development
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Global application of the assessment of communication skills of paediatric endocrinology fellows in the management of differences in sex development using the Espe E-Learning.Org portal
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- Journal Article
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- open access
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients : the paradigm of congenital hypogonadotropic hypogonadism
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De genetische revolutie in beeld gebracht : nieuwe diagnostische mogelijkheden voor aandoeningen van de geslachtsontwikkeling
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- Journal Article
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The contribution of the androgen receptor (AR) in human spatial learning and memory : a study in women with complete androgen insensitivity syndrome (CAIS)
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- Journal Article
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- open access
Consecutive lynestrenol and cross-sex hormone treatment in biological female adolescents with gender dysphoria : a retrospective analysis
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Gonadal dysgenesis in disorders of sex development : diagnosis and surgical management
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Costs of pleasure and the benefits of pain : self-perceived genital sensation, anatomy and sexual dysfunction
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- Miscellaneous
- open access
Response to the Council of Europe Human Rights commissioner's issue paper on human rights and intersex people
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- Journal Article
- A2
- open access
Global application of assessment of competencies of paediatric endocrinology fellows in the management of differences of sex development (DSD) using the ESPE e-learning.org portal
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- Journal Article
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- open access
Cognitive, emotional,and psychosocial functioning of girls treated with pharmacological puberty blockage for idiopathic central precocious puberty
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- Journal Article
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- open access
A recurrent germline mutation in the 5’UTR of the androgen receptor causes complete androgen insensitivity by activating aberrant uORF translation
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- Journal Article
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The long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene
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- Journal Article
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Identification of an AR mutation-negative class of androgen insensitivity by determining endogenous AR activity
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- Journal Article
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Disorders of sex development : insights from targeted gene sequencing of a large international patient cohort
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Hyperparathyreoïdie bij kinderen: presentatie en behandeling van een parathyreoïdadenoom
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Sexual quality of life after total phalloplasty in men with penile deficiency: an exploratory study
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Calcium and bone homeostasis in heterozygous carrier's of CYP24A1 mutations: a cross-sectional study
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- Journal Article
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- open access
Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome
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Germ cell cancer risk in DSD patients
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Advances in molecular markers of germ cell cancer in patients with disorders of sex development
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Managing the risk of germ cell tumourigenesis in disorders of sex development patients
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Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model