hrp0089p1-p220 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Pitfalls in the Diagnosis of An Infant with 46,XX DSD with Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency – the Value of Simultaneous Genetic Analysis to the Diagnosis in DSD

Idkowiak Jan , Mohamed Zainaba , Allen Stephanie , Chandran Harish , McCarthy Liam , Kirk Jeremy , Cole Trevor , Krone Nils

Introduction: Congenital adrenal hyperplasia (CAH) is the underlying diagnosis in most newborns presenting with 46,XX disorders of sex development (DSD). Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of CAH caused by inactivating mutations in the POR gene. POR is a crucial electron donor to all microsomal type 2 P450 cytochromes (CYPs), including 21-hydroxylase (CYP21A2) and 17alpha-hydroxylase (CYP17A1). The hallmark feature of PORD is combined sex-steroid a...

hrp0084p2-303 | DSD | ESPE2015

Multiple Malformations Extending the Phenotypic Spectrum of Antley–Bixler Syndrome in a Patient with P450 Oxidoreductase Deficiency due to Two Novel Mutations of the POR Gene

Janchevska Aleksandra , Idkowiak Jan , Caredda Elisabeta , Hurst Jane , Dattani Mehul T , Arlt Wiebke , Spoudeas Helen A

Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley–Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). While genetic testing confirms both conditions, establishing the exact diagnosis on clinical grounds can be challenging.Objective ...

hrp0095p1-509 | Growth and Syndromes | ESPE2022

Breast Satisfaction in adult women with Turner Syndrome – an international survey employing the BREAST-Q questionnaire

Idkowiak Jan , Smith Arlene , Mundy Lily , Wanaguru Amy , Gleeson Helena , Högler Wolfgang

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s persp...

hrp0089p2-p348 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Revisiting the Diagnosis: Next Generation Sequencing (NGS) Identifies Concurrence of PAIS in a Previously Reported Case of Klinefelter Syndrome (47,XXY) with Hypospadias

Mohamed Zainaba , Allen Stephanie , Bounford Kirsten McKay , Idkowiak Jan , Godber Caroline , Chandran Harish , McCarthy Liam , Cole Trevor , Kirk Jeremy , Krone Nils

Background: Klinefelter syndrome (KFS) is a sex chromosomal disorder characterised by hypogonadism, progressive testicular failure, gynaecomastia and learning difficulties. Genital anomalies are rarely observed in KFS. Androgen insensitivity has been previously postulated, but not proven to cause genital ambiguity in KFS. Androgen receptor (AR) gene defects are reported in AIS, but have not been reported in children with KFS with mild hypospadias. We describe a novel ...

hrp0095p1-181 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Monoallelic variants in Myelin Regulatory Factor (MYRF) associated with 46,XY DSD – two cases and first report of inheritance through parental mosaicism

Kaninde Abhidhamma , Chandran Harish , McCarthy Liam , Ghose Arun , Ellis David , Fulton Piers , Vogt Julie , Igbokwe Rebecca , Jeremy Kirk Jeremy , Mohammed Zainaba , Idkowiak Jan

Background: Haplo-insufficiency of the Myelin-Regulatory Factor (MYRF) gene causes cardiac-urogenital syndrome (CUGS) and Differences in Sexual Development (DSD) in 46,XY and 46,XX (OMIM #618280). The gene product, a transcription factor, is involved in development of Coelomic epithelium derived cells, and likely causative for DSD. To date, only a few MYRF de novo variants are reported in children with DSD and associated CUGS symptoms.<s...

hrp0089rfc1.4 | Adrenals &amp; HPA Axis | ESPE2018

Mass Spectrometry-Based Assessment of Childhood Androgen Excess in 487 Consecutive Patients Over 5 Years

Idkowiak Jan , Elhassan Yasir S , Mannion Pascoe , Smith Karen , Webster Rachel , Saraff Vrinda , Barrett Timothy G , Shaw Nick J , Krone Nils , Dias Renuka P , Kershaw Melanie , Kirk Jeremy , Krone Ruth E , O'Reilly Michael W , Arlt Wiebke

Background: Androgen excess in childhood is a common clinical presentation and might signify serious pathology. We have recently explored patterns and severity of androgen excess in a large female adult cohort to differentiate common polycystic ovarian syndrome (PCOS) from non-PCOS pathology, including congenital adrenal hyperplasia (CAH), ovarian hyperthecosis and adrenal and ovarian tumours (Elhassan et al., JCE&M 2018). Herein, we undertake a similar approach f...

hrp0095p1-574 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Phenotype-genotype characteristics of SRD5A2 with variation in gender choice among affected individuals: A single centre experience

Kaninde Abhidhamma , Baranowski Elizabeth , Igbowke Rebecca , McCarthy Liam , Chandran Harish , Vandermerwe Elmarie , Fulton Piers , Godber Caroline , Smart Helen , Curtis Joanne , Cole Trevor , Gleeson Helena , Latthe Pallavi , Kirk Jeremy , Idkowiak Jan , Mohamed Zainaba

Background: 5α-reductase type 2 deficiency (SRD5A2) is a rare cause of 46,XY DSD. Consensus guidelines on sex of rearing assignment at birth favours male gender. Typically undervirilised genitalia at birth virilise variably at puberty, posing gender identity challenges.Aim: We describe relevant data on clinical phenotype, hormonal and molecular workup and gender preference in patients with SRD5A2 deficiency from a ...