hrp0097p2-96 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes

Yoon Ji-Hee , Lee Nae-Yun , Hye Kim Ja , Hwang Soojin , Kim Gu-Hwan , Yoo Han-Wook , Choi Jin-Ho

Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgen because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center.Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endoc...

hrp0086p2-p418 | Gonads & DSD P2 | ESPE2016

Phenotype, Genotype and Gender Identity in Pubertal and Post-Pubertal Patients with Androgen Insensitivity Syndrome

Shabir Iram , Khurana Madan , Joseph Angela , Eunice Marumudi , Mehta Manju , Ammini Ariachery

Background: Androgen insensitivity syndrome (AIS) is a rare disease due to end organ resistance of androgens. AIS is commonly caused by the mutations of androgen receptor (AR) gene located on chromosome Xq11-12. The mode of inheritance is hemizygous, where males get severely affected and females remain as carriers.Objective and hypotheses: Here, we describe the Phenotype–Genotype correlation and gender identity of pubertal and post pubertal...

hrp0094p2-409 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Surprising X Chromosomes: Unusual Mosaicism

Zorkot Zeinab , Yatsenko Svetlana , Garibaldi Luigi , Witchel Selma

Background: Among 46,XY individuals, androgen insensitivity syndrome (AIS) due to deleterious variants of the androgen receptor (AR) gene is one cause for a difference of sexual development (DSD). Typically, individuals with complete androgen insensitivity syndrome (CAIS) present with female external genitalia and palpable labial masses. Whereas most patients carry germline variants inherited in an X-linked manner, approximately 30% of patients manifest de novo variants. We de...

hrp0082p3-d2-970 | Sex Development (1) | ESPE2014

A Familial Case of Complete Androgen Insensitivity Syndrome

Maines Evelina , Piona Claudia , Morandi Grazia , Baldinotti Fulvia , Antoniazzi Franco , Gaudino Rossella

Background: Complete androgen insensitivity syndrome (CAIS) is a condition that results in the complete inability of the cell to respond to androgens and falls within the category of 46,XY disorder of sex development (DSD). CAIS is characterized by female external genitalia in a 46,XY karyotype individual with normal testis development but undescended testes and unresponsiveness to age-appropriate level of androgens. The typical presentation is primary amenorrhea in an adolesc...

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...

hrp0097rfc7.5 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Sex differences in endocrine mechanisms during early human fetal brain development

Buonocore Federica , Del Valle Ignacio , P. Suntharalingham Jenifer , Moreno Nadjeda , Developmental Biology Resource Human , C. Achermann John

Introduction: The influence of sex chromosomes and sex hormones on early human brain development is still poorly understood. Expression of Y chromosome genes may influence aspects of brain maturation in the 46,XY fetus, but the contribution of different Y genes is unknown. Furthermore, a marked increase in testicular testosterone biosynthesis/release from the testis occurs at around 8 weeks post conception (wpc) in the 46,XY fetus, but it is unclear whether te...

hrp0095p1-207 | Adrenals and HPA Axis | ESPE2022

Clinical and genetic characteristics of androgen insensitivity syndrome

Ting Wu

Background: Androgen insensitivity syndrome (AIS) is a common 46XY disorders of sex development (DSD), which is mainly caused by mutations in the androgen receptor (AR) gene. The clinical manifestations vary among patients, depending on residual androgen receptor activity.Methods: Five patients with different degrees of masculinization of external genitalia were selected as the research objects. As well as the detailed m...

hrp0086p1-p377 | Gonads & DSD P1 | ESPE2016

Effect and Safety Aspects of Percutaneous Administration of Dihydrotestosterone in Children with Micropenis with Different Genetic Background

Luo Feihong , Xu Dan , Xi Li , Cheng Ruoqian , Lu Liangsheng

Background: Micropenis may result from different aetiology and therapy data are still scarce.Objective and hypotheses: To investigate the effect and safety of dihydrotestosterone transdermal gel in children with micropenis.Method: Totally 23 agnogenic micropenis children with 46,XY karyotype were recruited to participate a perspective study. SRY, AR and SRD5A2 gene were sequenced. 2.5% DHT gel was applied individually based on the ...

hrp0095p2-172 | Growth and Syndromes | ESPE2022

Practicability and user friendliness of height measurement by proof of concept APP using Augmented Reality, in 22 healthy children

Rösler Antonia , Gasparatos Nikolaos , Hermanussen Michael , Scheffler Christiane

Background: Child growth is a dynamic process and influenced by various environmental factors. When measured at short intervals, growth of healthy children shows certain characteristic patterns, which have rarely been studied, but are of great importance for clinical purposes. The study was approved by the Ethical Committee of the University of Potsdam.Aim: To see whether measurements of height using photographic display...

hrp0089fc8.6 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

The Roles of Steroids in Gonadal Development and Maintenance – Insights from a Zebrafish Model of Androgen and Cortisol Deficiency

Oakes James A. , Li Nan , Wistow Belinda , Storbeck Karl-Heinz , Cunliffe Vincent T. , Krone Nils

Increasing evidence suggests that the aetiology of disorders of sex development cannot be solely explained by genetic alterations. It is highly likely that environmental factors hitting susceptible genetic backgrounds are partly causative. Zebrafish sex is highly plastic during development, making this species an ideal model for investigation of endocrine disruption and gonadal development and function. However, the hormonal regulation of these processes in zebrafish is poorly...