Area of research
Endocrinology, Diabetes and Metabolism · Neurology
Research interest
Research interests include Neurofibromatosis and Schwannoma Cases, Thyroid Disorders and Treatments, Diabetes Management and Education, and Metabolism and Genetic Disorders.
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Self- and proxy-reported outcomes after surgery in people with disorders/differences of sex development (DSD) in Europe (dsd-LIFE)
Sexuality in Adults with Differences/Disorders of Sex Development (DSD): Findings from the dsd-LIFE Study
Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet
Karyotype - Phenotype Associations in Patients with Turner Syndrome.
Voice dissatisfaction in individuals with a disorder of sex development
Caring for individuals with a difference of sex development (DSD): a Consensus Statement
Gender Dysphoria and Gender Change in Disorders of Sex Development/Intersex Conditions: Results From the dsd-LIFE Study
Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study
Gonadal function in adult male patients with congenital adrenal hyperplasia
Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference populations (dsd-LIFE)
Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial
Management of Gonads in Adults with Androgen Insensitivity: An International Survey
Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum
Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study
Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population
Hormone therapy and patient satisfaction with treatment, in a large cohort of diverse disorders of sex development
A Novel Hemizygous Mutation of <b><i>MAMLD1</i></b> in a Patient with 46,XY Complete Gonadal Dysgenesis
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations
DSD and Professionalism from a Multilateral View: Supplementing the Consensus Statement on the Basis of a Qualitative Survey