hrp0084fc6.6 | Gonads & DSD | ESPE2015

Frequency of Gonadal Tumour in Complete Androgen Insensitivity Syndrome: a Retrospective Case-Series Analysis

Chaudhry Saduf , Tadokoro-Cuccaro Rieko , Hughes Ieuan , Acerini Carlo

Background: Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder of sex development (DSD) where affected individuals are phenotypically female but have a XY karyotype and testes. With increasing age there is an increased risk of malignant gonadal change, with incidence rates variously reported from 3.6 to 14%. Consequently, gonadectomy is recommended either during childhood or after puberty is complete, although there is no consensus on the optimal...

hrp0089rfc3.5 | Diabetes and Insulin 1 | ESPE2018

Recent Secular Change in Pre- and Postnatal Growth and Adiposity in Infants of Mothers with Gestational Diabetes

Olga Laurentya , Prentice Philippa , Hughes Ieuan , Acerini Carlo , Ong Ken , Dunger David

Objective: Typically, infants born to mothers with gestational diabetes mellitus (IOGDM) have greater risks for macrosomia, later obesity and metabolic diseases. However, we have noticed that birth weights of IOGDM have reduced over the last decade even with uniform application of the International Association of Diabetes and Pregnancy Study Group’s (IADPSG) consensus definition. We therefore compared infancy growth outcomes from two IOGDM cohorts born during non-overlapp...

hrp0082p1-d3-94 | Sex Development | ESPE2014

Prenatal Exposure to Phthalates and Phenols in Relation to Anogenital Distance at Birth in Male Infants

Fisher Benjamin G , Thankamony Ajay , Ong Ken K , Dunger David B , Hughes Ieuan A , Acerini Carlo L

Introduction: Increasing incidence of male reproductive disorders may be due to fetal exposure to putative endocrine disruptor chemicals (EDCs), such as phthalates and phenols. Anogenital Distance (AGD) is a biomarker of fetal androgen action in animals, and has recently been linked to testicular dysgenesis syndrome in humans.Objective: To examine the relationship between prenatal phthalate and phenol exposure and birth AGD in male infants.<p class="...

hrp0082p2-d1-572 | Sex Development | ESPE2014

Anogenital Distance, Penis Growth, and Masculine Behaviour Evidence for Independent Neurobehavioral Effects of Foetal Versus Postnatal Androgen Exposure in Boys

Pasterski Vickie , Acerini Carlo , Dunger David , Ong Ken , Hughes Ieuan , Thankamony Ajay , Hines Melissa

Background: Associations between foetal androgen deficiency and variations in anogenital distance (AGD) suggest that AGD is a reliable indicator of foetal androgen exposure. Similarly, variation in postnatal penis growth associated with variations in testosterone show penis growth to be a potential biomarker of early postnatal androgen exposure. Though variation in early androgen exposure is also hypothesized to underlie neurobehavioral masculinisation, until now, no reports h...

hrp0089p2-p342 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

In-silico Gene-protein Analysis and Clinical Phenotype Characterisation of Three Novel NR5A1/SF1 Gene Mutations Presenting with 46,XY DSD

Cuccaro Rieko Tadokoro , Thankamony Ajay , Hendriks A Emile J , Alvi Sabah , Armstrong Ruth , Bruty Jonathan , A Hughes Ieuan , L Acerini Carlo

Background: Disorders of sex development (DSD) due to mutations in the NR5A1 (SF1) gene result in a highly variable phenotype.Objective: To report the clinical phenotype and the molecular/structural characteristics of the gene-protein product arising from three novel mutations of the NR5A1 (SF1) gene found in patients presenting with 46,XY DSD.Method: Phenotype determined from interrogation of clinical case notes. Interpre...

hrp0084p2-256 | Diabetes | ESPE2015

Exposure to Phthalates and Phenols in Relation to Gestational Blood Glucose Homeostasis

Fisher Benjamin G. , Frederiksen Hanne , Andersson Anna-Maria , Juul Anders , Thankamony Ajay , Ong Ken K. , Dunger David B. , Hughes Ieuan A. , Acerini Carlo L.

Background: Endocrine disrupting chemicals (EDCs), such as phthalates and bisphenol A (BPA), have been associated with insulin resistance (IR) and type 2 diabetes (T2D) in non-pregnant adults. By contrast, recent pilot studies of pregnant women found negative associations between phthalates and blood glucose, and a lack of association with BPA. No studies have examined gestational IR or secretion in relation to EDC exposure.Objective: To confirm these re...

hrp0084p1-58 | DSD | ESPE2015

Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome

Lucas-Herald Angela K , Ahmed S Faisal , Bertelloni Silvano , Juul Anders , Bryce Jillian , Jiang Jipu , Rodie Martina , Johansen Marie L , Hiort Olaf , Holterhus Paul-Martin , Cools Martine , Desloovere An , Weintrob Naomi , Hannema Sabine E , Guran Tulay , Darendeliler Feyzad , Nordenstrom Anna , Hughes Ieuan

Background: Partial Androgen insensitivity syndrome (PAIS) is a rare condition which is associated with a variable phenotype. To date, there are limited data reporting long-term endocrine outcome for this condition.Aims: To determine the outcomes and clinical characteristics for 46, XY males with PAIS, using information from the International DSD (I-DSD) Registry and its clinical users.Methods: The I-DSD Registry and its users were...

hrp0084p2-312 | DSD | ESPE2015

Birth Weight in Different Aetiologies of Disorder of Sex Development

Poyrazoglu Sukran , Darendeliler Feyza , Ahmed Syed Faisal , Bryce Jillian , Jiang Jipu , Rodie Martina , Hiort Olaf , Hannema Sabine E , Bertelloni Silvano , Lisa Lidka , Guran Tulay , Hughes Ieuan , Cools Martine , Chatelain Pierre , Claahsen-van der Grinten Hedi L , Nordenstrom Anna , Holterhus Paul-Martin , Kohler Birgit , Niedziela Marek , Krone Nils

Background: It is well known that boys are heavier than girls at birth. Causes of this difference are thought to originate from the Y chromosome and as a result of androgen action. Although some studies showed that sex dimorphism in size at birth is dependent of fetal androgens, one study reported that it is not generated by action of androgens.Objective and hypotheses: To determine birth weight (BW) of children in different aetiologies of disorder of se...

hrp0095p1-381 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Gynaecomastia And Its Management In Partial Androgen Insensitivity Syndrome (PAIS)

Patjamontri Supitcha , Lucas-Herald Angela , Bryce Jillian , Cools Martine , Gianni Russo , Globa Evgenia , Zelinska Natalia , Guerra-Junior Gil , Holterhus Paul-Martin , A Hughes Ieuan , Tadokoro-Cuccaro Rieko , Nordenstrom Anna , Rita Stancampiano Marianna , Weintrob Naomi , van den Akker Erica , Hiort Olaf , Hoffman Paul , Juul Anders , Nimali Seneviratne Sumudu , Faisal Ahmed S.

Introduction: In adolescents and men with PAIS, gynaecomastia has been reported in the majority but its management remains challenging.Objectives: To assess the current management of gynaecomastia as well as clinical characteristics in male PAIS.Materials and Methods: Retrospective review in the I-DSD registry of 46, XY male PAIS who were over the age of 10 years.<p class="abst...