Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

hrp0097p1-166 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Treatment with triptorelin and estradiol in transgender girls. should we use SDS for assigned sex or SDS for affirmed gender?

Rica Itxaso , Sánchez Amaia , Peña Asier , Grau Gema , Vela Amaia , Luisa Guadilla Maria

Introduction: International guidelines recommend puberty blocking using GnRH analogs and subsequent association with estrogen therapy in transgender girls who require for medical treatment. They have been shown to have a bone mineral density calculated as standard deviation score (BMD-SDS) for their assigned sex lower than the mean at baseline, and there is a potential risk of impairing peak bone mass as treatment result.Objectiv...

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hrp0097p1-167 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Low-dose pioglitazone for polycystic ovary syndrome in adolescent girls:differential fat-mass redistribution by HOTAIR rs1443512 genotype

de Zegher Francis , Diaz Marta , Ibañez Lourdes

Introduction: Adolescent polycystic ovary syndrome (PCOS) is characterized by androgen excess and oligo-amenorrhea, and often results from ectopic lipid storage due to a mismatch between early adipogenesis and later lipogenesis. Endogenous HOTAIR and exogenous pioglitazone are enhancers of subcutaneous adipogenesis, particularly in the gluteofemoral region. The A allele of HOTAIR rs1443512 is an equivalent of a natural knock-down and is thus a candidate to inf...

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hrp0097p1-168 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Parental perceptions and concerns in a cohort of infants with unoperated hypospadias

L. Leunbach Tina , Ernst Andreas , Wisniewski Amy , Berglund Agnethe , H. Gravholt Claus , Faisal Ahmed Syed , M. Hvistendahl Gitte , F. Rawashdeh Yazan

Background: Hypospadias surgery is usually performed during infancy at which time parents act as proxy decision makers. Parental decisional regret, a common phenomenon after hypospadias surgery, may be affected by the process of informed consent where decision making between parents and healthcare provider is shared based on available evidence and individual concerns.Objective: To identify short- and long-term parental c...

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hrp0097p1-169 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

RXFP2: validating its role in autosomal recessive bilateral cryptorchidism and a novel association with male infertility

Syryn Hannes , Verdin Hannah , Van de Velde Julie , Peelman Frank , Becker Marianne , Brachet Cécile , den Brinker Marieke , Depoorter Sylvia , Fudvoye Julie , Klink Daniel , Lysy Philippe , Massa Guy , Reynaert Nele , Rochtus Anne , Staels Willem , Van Loocke Marlies , Sinclair Andrew , Ayers Katie , Bathgate Ross , Cools Martine , De Baere Elfride

Background/Aims: Cryptorchidism or undescended testis is a prevalent congenital urogenital condition affecting male newborns with an incidence rate ranging from 1.0 to 4.6%. Mouse models have implicated INSL3 and its receptor RXFP2 (formerly known as GREAT or LGR8) in the development of the condition. RXFP2 acts as a G protein-coupled receptor that triggers the generation of cAMP by binding INSL3. But despite the established role in testicular descent, so far ...

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hrp0097p1-170 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Explaining variations of menarcheal age by anthropometrical factors - the GrowUp Gothenburg study

Gårdstedt Berghog Jenni , Albertsson-Wikland Kerstin , Niklasson Aimon , Holmgren Anton

Background and aim: Menarche is a milestone of female pubertal development as well as an important sociocultural and psychological event during adolescence. Age of menarche has changed with time, and there is a broad individual variation in timing. Many factors are associated with menarcheal age, where further research is needed. The QEPS-growth model makes it possible to conduct detailed analyses of growth1,2. The aim of the study was to investigat...

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hrp0097p1-171 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

National trends in central precocious puberty, isolated precocious adrenarche and isolated precocious telarche before and during COVID19 pandemic.

Lazarevič Melisa , Knific Taja , Žibert Janez , Šuput Omladič Jasna , Battelino Tadej , Avbelj Stefanija Magdalena

Background: Decreasing age at the onset of puberty is observed worldwide, several countries report also increasing incidence trends of central precocious puberty (CPP), and some observed an importantly higher number of CPP cases during the COVID19 pandemic. Scarce data report also rising trends in isolated precocious adrenarche (IPA) and isolated precocious telarche (IPT).Objectives: To determine the national incidence a...

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hrp0097p1-172 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Mutation in FAN1 gene causes impaired DNA damage response and Ovarian Dysgenesis

Lavi Eran , Florsheim Natan , Lobel Orit , Renbaum Pinchas , Levy-Lahad Efrat , Zangen David

Background: Severe Ovarian Dysgenesis (OD), a rare heterogeneous XX disorder of Sex Development (XX-DSD) presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in about 70% of cases. To identify novel causes of OD, we study patients in which known genes have been excluded.Methods: Whole-exome-sequencing was performed on DNA extracted from peri...

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hrp0097p1-173 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome

Loch Batista Rafael , Coelho Fernando , Craveiro Flora , Dallago Renata , Domenice Sorahia , Viana Publio , Dantas Patricia , Carvalho Filomena , Mendonca Berenice

Introduction: Complete Androgen Insensitivity Syndrome (CAIS) is characterized by a complete external genitalia appearance and testicular development in 46,XY individuals harboring pathogenic allelic variants in the AR gene. Due to growing evidence regarding the low risk of germ cell tumors (GCT) in AIS. Prophylactic gonadectomy has been debatable in the CAIS management, mainly due to the absence of an accurate biomarker for GCT....

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hrp0097p1-174 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Ovarian Reserve in Children with Juvenile İdiopathic Arthritis Using Biologic Disease-Modifying Anti-Rheumatic Drugs

Özer Yavuz , Yıldız Mehmet , Turan Hande , Tarçın Gürkan , Bingöl Aydın Dilek , Günalp Aybüke , Haşlak Fatih , Kiliç Konte Elif , Aslan Esma , Koker Oya , Bayramoğlu Elvan , Şahin Sezgin , Adrovic Amra , Barut Kenan , Kasapçopur Özgür , Evliyaoğlu Olcay

The aim of the study is to assess the effect of juvenile idiopathic arthritis (JIA) and biologic disease-modifying anti-rheumatic drugs (bDMARD) on ovarian reserve in children. A cross-sectional study was performed from March 2021 to March 2022 and included 81 patients with JIA and 49 healthy children. Serum anti-Müllerian hormone (AMH), follicle-stimulating hormone (FSH), luteinizing hormone (LH), and estradiol levels were analyzed using electrochemiluminescence methods....

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hrp0097p1-175 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

The IGF system shows changes in the follicular fluid of women with PCOS.

Sartori Chiara , Catellani Cecilia , Buia Veronica , Croci Stefania , Righi Beatrice , Morini Daria , Immacolata Falbo Angela , Nicoli Alessia , De Fanti Alessandro , Teresa Villani Maria , Elisabeth Street Maria

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women of reproductive age and is characterised by chronic low-grade inflammation, ovulatory dysfunction and hyperandrogenism, and often by insulin resistance. The IGF system is involved in glucose metabolism regulation and is altered in chronic inflammation where both IGF-I and –II can be reduced. We previously described increased HMGB1 content in follicular fluid (FF) in P...

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hrp0097p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Mechanism of mutagenesis and phenotype implications of small indels in the Androgen Receptor gene in Androgen Insensitivity Syndrome

Loch Batista Rafael , Ramos Raquel , Caroline Afonso Ana , Petroli Reginaldo , Tereza Ferrari Maria , Domenice Sorahia , Nishi Mirian , Mendonca Berenice

Indels are highly abundant in human genomes and have contributed massively to genome evolution. However, the role of indels and their underlined mechanisms of mutagenesis in Mendelian disorders still needs to be appreciated. To explore the contribution of indels in a monogenic disorder, we analyzed all indels already described in the AR gene, including three novel indels found in our cohort. We analyzed the indel distribution through the AR coding region, compared wit...

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hrp0097p1-177 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

The consistency between Assigned Gender and Individual Gender Identity in Disorder of Sex Development Cases: Long-Term Results from a Single Center

Jalilova Arzu , Özen Samim , Yuluğ Taş Begüm , Kızılay Özalp Deniz , Ece Solmaz Aslı , Gül Balkı Hanife , Tekin Ali , Arslan Emrullah , Atik Tahir , Gülpınar Kübra , Çoğulu Özgür , Ünal Kocabaş Gökçen , Özbaran Burcu , Onay Hüseyin , Ulman İbrahim , Özkınay Ferda , Saygılı Füsun , Gökşen Damla , Darcan Şükran

Introduction: In cases of disorder of sex development (DSD), the change between the gender assigned at birth and the individual's chosen gender identity can occur especially after puberty.Aim: was to determine the relationship between genetic sex, gender assigned at birth and gender identity, and the importance of molecular diagnosis.Method:154patients older than 14years of ag...

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hrp0097p1-178 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Inhibin B- a functional marker to screen gonadal function in CAIS patients?

Viola Wagner Isabel , Tyutyusheva Nina , Bertelloni Silvano , Doehnert Ulla , Simon Frielitz Fabian , Hiort Olaf

Introduction and objective: Gonadectomy was carried out for a long time after the diagnosis of complete androgen insensitivity syndrome (CAIS). It is now recommended to leave the gonads in situ in order to guarantee endogenous hormone production. It is unclear how best to clinically monitor testicular function. The aim of the study was to investigate whether inhibin B can be used as a future follow-up parameter to screen for gonadal function in CAIS p...

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hrp0097p1-179 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Clinical characteristics and genetic expansion of 46, XY disorders of sex development children in a Chinese prospective study

Tang Yijun

Disorders of sex development (DSD) refer to a group of congenital diseases with inconsistencies between chromosomal karyotypes, external genitalia, and gonadal development. Diagnosis and management strategy of DSD is difficult and various due to heterogeneous phenotype and genotype. Under widespread use of genomic sequencing technologies, multiple genes and mechanism has been identified and proposed as genetic causes of 46, XY DSD. In this study, 178 46, XY DSD patients were e...

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hrp0097p1-180 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Clinical, radiological and laboratory characteristics of thelarche variant: a retrospective analysis

Tamaro Gianluca , Lorenzon Beatrice , Burlo Francesca , Peinkhofer Martina , Faleschini Elena , Tornese Gianluca

Background: ‘Thelarche variant’ (TV), also known as ‘unsustained/slowly progressive puberty’ or ‘exaggerated thelarche’, is a term used to describe girls with premature thelarche and intermediate features between isolated premature thelarche (PT) and central precocious puberty (CPP). Despite being characterized by a FSH predominant response and by a peak LH response <5 IU/L to GnRH test, a univocal definition is lacking.<...

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hrp0097p1-181 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Physicians' Knowledge, Experience, and Attitudes Towards Children and Adolescents with Gender Dysphoria/Incongruence in Turkey

Özalp Kızılay Deniz , Jalilova Arzu , Darcan Şükran , Pediatric Endocrinology and Diabetes Society Turkish , Group on Gender Incongruence Working

Keywords: Gender Dysphoria/ &Idot;ncongruence, child and adolescent, attitudes toward transgendered individualsObjective: To investigate physicians' knowledge and attitudes evaluating children and adolescents with gender dysphoria/incongruence (GD/GI) concerning care and treatment.Materials and Methods: A questionnaire targeting the knowledge and experiences of physicians and ...

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hrp0097p1-182 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

DNA Ligase IV Deficieny Identified in a Patient with Hypergonadotropic Hypogonadism: A Case Report

Yasar Deniz , Karacan Küçükali Gülin , Özkaya Dönmez Beyhan , Araslı Yılmaz Aslıhan , Okur İclal , Sarıkaya Özdemir Behiye , Sezer Abdullah , Kurnaz Erdal , Keskin Melikşah , Savaş Erdeve Şenay

DNA ligase IV (Lig 4) deficiency (MIM #606593) is a rare autosomal recessive disorder related with impaired DNA damage-response mechanisms. Lig 4 syndrome has a broad clinical presentation; microcephaly, facial abnormality, sensitivity to ionizing radiation, combined immunodeficiency, progressive bone marrow failure and predisposition to malignancy. We describe the patient with Lig4 syndrome presented lissencephaly, growth failure and hypogonadism. The patient is a 18-years-ol...

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hrp0097p1-183 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Lipid profiles and HbA1c in transgender adolescents after one year of cross-hormone treatment

Kvernebo Sunnergren Kjersti , Badsberg Norup Pernille , E. Haahr Mette , Christiansen Peter , Aksglaede Lise , H. Cleemann Line , Juul Anders , M. Main Katharina

Background: Transgender adolescents may be treated with gender affirming hormone therapy (GAHT) consisting of gonadotropin-releasing hormone agonists (GnRHa) and cross-sex hormones. Limited data are available regarding the metabolic effects of GAHT in adolescence.Objective: To evaluate the lipid profiles and HbA1c in transgender adolescents after one year of cross-hormone treatment.Patients...

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hrp0097p1-184 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Retrospective Analysis of Individuals with Differences in Sex Development (DSD) in a Brazilian Single-Center Study Across the Lifespan

Batista Rafael , Gomes Nathalia , Bachega Tania , Madureira Guiomar , Miranda Mirela , Dallago Renata , Teresa Ferrari Maria , Lousada Lia , Craveiro Flora , Batatinha Julio , Scalco Renata , Jorge Alexander , Costa Elaine , Helena Sircili Maria , Denes Francisco , Inacio Marlene , Nishi Mirian , Domenice Sorahia , Mendonca Berenice

Context: Differences in sex development (DSD) represent a broad spectrum of conditions that can present at different ages to various healthcare professionals with different backgrounds.Design: This is a retrospective, observational cohort that includes all DSD subjects referred to a multi-professional DSD team over a period of 41 years (from 1980 to 2021).Participants: A total of 6...

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hrp0097p1-185 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Atypical genitalia as a new presentation of ectodermal dysplasia: case report

Raafat Shaimaa , abdelmeguid yasmine , Waheeb saber

Background: Ectodermal dysplasia is considered as an inherited multi-systemic disorder affecting tissues derived from ectoderm (skin, hair, teeth, nails and sweat glands). There are many genes involved in genetic background of this disorder with variable modes of inheritance. The thrombospondin-type laminin G domain and epilepsy- associated repeats (TSPEAR) gene have been found in some patients with this disorder with interesting variable phenotypic spectrum. ...

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hrp0097p1-365 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Etiology, histology and long-term outcome of bilateral testicular regression: a large Belgian series

Tack Lloyd , Brachet Cécile , Beauloye Veronique , Heinrichs Claudine , Boros Emese , De Waele Kathleen , van der Straaten Saskia , Van Aken Sara , Craen Margarita , Lemay Annelies , Rochtus Anne , Casteels Kristina , Beckers Dominique , Mouraux Thierry , Logghe Karl , Van Loocke Marlies , Massa Guy , Van de Vijver Koen , Syryn Hannes , Van De Velde Julie , De Baere Elfride , Verdin Hannah , Cools Martine

Background: Long-term outcome studies on bilateral testicular regression (BTR) are currently lacking, hampering counseling of patients and parents. Although a vascular origin was initially reported, recent studies revealed a genetic origin in a subset of patients (i.e. DHX37 gene variants). How this relates to patient outcomes remains unclear.Methods: Thirty-five patients with BTR were recruited in eight Belgian centers ...

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hrp0097p1-366 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Trends in diagnosis and management of children with Differences in Sex Development over three decades– clinical experience of a tertiary care center

Eben Chaime Amit , Phillip Moshe , Ben-Meir David , de Vries Liat

Introduction: Differences in sex development (DSD) comprise a heterogeneous group of congenital conditions that affect human sex determination and differentiation. We aimed to describe the clinical diagnoses of children with DSD who were referred to a pediatric tertiary center, and to examine trends in clinical features and management over three decades.Methods: This is a retrospective, cross-sectional study of children ...

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hrp0097p1-367 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Changes in body composition in transgender adolescents during puberty suppression and hormone treatment

Boogers Lidewij , Reijtenbagh Sterre , Wiepjes Chantal , van Trotsenburg Paul , den Heijer Martin , Hannema Sabine

Context: Transgender adolescents can be treated with puberty suppression (PS) using GnRH agonists (GnRHa), and subsequent hormone therapy (HT). Up to this date, it has not been described at what rate body composition in transgender adolescents changes during the first years of treatment. Also, it is unknown whether Tanner stage at which treatment is initiated, might affect this treatment outcome.Methods: Transgender adol...

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hrp0097p1-368 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Results of Empower-DSD: a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents

Neumann Uta , Wiegmann Sabine , Ernst Martina , Ihme Loretta , Wechsung Katja , Kalender Ute , Stöckigt Barbara , Richter-Unruh Annette , Holland Cindy , Hiort Olaf , Jürgensen Martina , Marshall Louise , Döhnert Ulla , Schneidewind Julia , Wagner Isabel , Rohayem Julia , Liesenkötter Klaus-Peter , Wabitsch Martin , Fuchs Malaika , Herrmann Gloria , Bauer Agnes , Haase Martina , Grau Anna , Klose Torben , Roll Stephanie , Schilling Ralph , Keil Thomas

Background: Within the government-funded project Empower-DSD, modular training programmes for children and young adults aged 6-24 years with the diagnoses CAH, Turner-syndrome, Klinefelter-syndrome or XX-/XY-DSD (including MRKH) and their relatives were developed to improve diagnosis-specific knowledge, skills and empowerment. Overall, 105 trainings were offered between August 2020 and September 2022 in 5 centres with DSD expertise in Germany.<p class="abs...

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hrp0097p1-369 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Abstract withdrawn...

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hrp0097p1-370 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Growth and final height in Danish transgender adolescents treated with hormone therapy before cessation of puberty and growth spurt

Badsberg Norup Pernille , Ewers Haahr Mette , Christiansen Peter , Aksglaede Lise , Cleemann Line , Juul Anders , M. Main Katharina

Background: Linear growth during spontaneous puberty contributes approximately 20% to adult height in healthy subjects. The impact of gender-affirming hormone therapy (GAHT) on final height in transgender adolescents is sparsely studied.Aim: We aimed to investigate the growth and final height of Danish transgender adolescents.Methods: Our national cohort of transgender adolescents ...

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hrp0097p1-371 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Effect of maternal diet on pubertal stages and ano-genital distance from birth up to 12 months: data from the European LIFE-MILCH project

Alberghi Francesca , Fontana Marta , Righi Beatrice , Shulhai Anna-Mariia , Davolio Emanuela , Rotteglia Cecilia , Pelosi Annalisa , Catellani Cecilia , Sartori Chiara , Buia Veronica , Maria Papini Anna , Fanos Vassilios , Palanza Paola , E. Street Maria

The ongoing European LIFE-MILCH project (www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages, and ano-genital distance (AGD) to establish a risk assessment model to prepare safety guidelines. In this study we evaluated the effects of maternal diet during and after pr...

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hrp0097p1-372 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Incidence of differences of sex development in Switzerland 2000-2019

Metzger Sara , Sommer Grit , Flück Christa , DSD Cohort Study Group Swiss

Background: Differences in sex development (DSD) comprise a large group of rare, mostly genetic disorders along the path of human sexual development. Since the Chicago Consensus, health care providers group them in sex chromosome DSD, 46,XY and 46,XX DSD with subgroups regarding their effect on sex hormone synthesis, action or excess, on gonadal development, and others. Incidence of rare DSD is not well established despite public interest.<p class="abstext...

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hrp0097p1-373 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Methodological considerations on determining sex steroids in children: Comparison of conventional immunoassays with LC-MS/MS

Ankarberg Lindgren Carina , Becker Charlotte , Svala Emilia , Ryberg Henrik

Objectives: In laboratory medicine, external quality assessment (EQA) schemes have become versatile tools for the detection of analytical flaws. However, for pediatric sex steroid levels EQA schemes are lacking. We aimed to investigate the suitability of different estradiol and testosterone immunoassays in a pediatric setting, in comparison with clinical liquid chromatography-tandem mass spectrometry (LC-MS/MS) assays.Methods:</s...

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hrp0097p1-374 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Metabolic health status and cortisol metabolism of adolescents with gender incongruence / gender dysphoria during process of diagnosis

Gawlik Aneta , Antosz Aleksandra , Chmiel-Aleksandrowicz Iga , Januszek-Trzciąkowska Aleksandra , Karbowska Dorota , Gawlik Jakub , Nowak Zuzanna , Jakubowski Tomasz

Introduction: Gender incongruence (GI) is a condition where a person's gender identity does not match their assigned sex at birth, and can lead to significant distress and gender dysphoria (GD). In various studies it has been associated with a predisposition to developing pathological eating behaviours, which in turn negatively influence the individual’s metabolic health. In our study we examine selected markers of metabolic condition and assess sur...

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hrp0097p1-375 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Value of serum AMH and INHB in the diagnosis and treatment of central precocious puberty and early and fast puberty girls

Yang Yu , Zhang Haimeng

Objective: To investigate the role of serum anti-mullerian hormone (AMH) and inhibin-B (INHB) in central precocious puberty precocious puberty (CPP) and early and fast puberty(EFP).Methods:90 girls with CPP, EFP and premature thelarche (PT) were enrolled in our hospital from January 2021 to December 2022, and 45 girls without healthy development were enrolled. General data, sex hormones, AMH, INHB levels and gonad ultras...

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hrp0097p1-376 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Obtaining clear birth certificates for children with difference in sex development (DSD) undergoing sex reassignment: A new legal process for Sri Lanka

Seneviratne Sumudu , Jayakody Chamath , Hewakuruppu Sathee , Wickremesekere Dinusha , Jayasundere Ramani

Introduction: Majority of births in Sri Lanka occur in hospitals, with birth registration completed prior to discharge. When babies with atypical genitalia are missed at birth, and gender re-assignment decided, following later detection and evaluation, families faced many challenges to obtain a “clear” birth certificate (BC), without incriminating details of prior name or sex.Objectives: To describe character...

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hrp0097p1-377 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Prognostic Factors and Long-Term Safety of GnRHa in the Treatment of Idiopathic Central Precocious Puberty in Girls

Wu Wenyong , Chen Ruimin

Objective: To investigate the relevant prognostic factors and long-term safety of gonadotropin-releasing hormone analogs (GnRHa) in the treatment of idiopathic central precocious puberty (ICPP).Methods: This was a retrospective study. Data analysis included 142 girls with ICPP who reached final adult height (FAH). Among them, 101 girls were treated with GnRHa while 41 girls were untreated. The Pearson and Spearman correl...

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hrp0097p1-378 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Infant with 45, XO DSD presented with Li Fraumeni syndrome, a case report from Kuwait.

Alfadhli Maryam , Alhenaidi Razan , Elshafie Reem , Alkandari Hessa , Alhomaidah Doha

Background: X-chromosome monosomy is the most common sex abnormality in females, with a higher prevalence of cancer than the general population. Virilizing adrenocortical tumors are rarely seen in patients with Turner’s Syndrome. There have been 2 reported cases of simultaneous TP53 mutations (Li Fraumeni’s syndrome) and Turner’s syndrome. Here we report first case with this rare association from Kuwait.Clinical...

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hrp0097p1-379 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Hyperandrogenism in adolescents assigned female at birth during process of gender incongruence/ gender dysphoria diagnosis

Gawlik Aneta , Antosz Aleksandra , Chmiel-Aleksandrowicz Iga , Januszek-Trzciąkowska Aleksandra , Karbowska Dorota , Gawlik Jakub , Nowak Zuzanna , Jakubowski Tomasz

Introduction: Gender incongruence (GI) is a condition where a person's gender identity does not match their assigned sex at birth and can lead to significant distress and gender dysphoria (GD). Some studies have shown a higher prevalence of hyperandrogenism (HA) in transboys/transmen than among the cisgender female population and considered its meaning in the context the of gender identity development. Therefore, further studies confirming this observatio...

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hrp0097p1-380 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A novel mutation of androgen receptor in a patient with complete androgen insensitivity syndrome

Jong Kim Chan , Hwan Chang Seong

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by mutation in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a crucial role in male sexual differentiation and development. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male shows some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, par...

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hrp0097p1-381 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

The impact of Covid-19 pandemic on incidence of precocious puberty. A comparative study in pediatric population of Northwest Greece and Crete

Papaefstathiou Ioanna , Smyrnaki Penelopi , Priakou Siraina , Dimakis Efthimios

Recent evidence suggests increase of Precocious Puberty (PP) after the Covid-19 pandemic; however, there are no data from Greece in the literature. The aim of this study was to investigate whether there was an increase in the incidence of PP, during the pandemic period, in Northwest Greece (Ioannina) and Crete (Heraklion). A retrospective analysis of prospectively collected data was performed, in pediatric patients assessed in Pediatric Endocrinology outpatient clinics in Ioan...

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hrp0097p1-382 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A new GATA-4 mutation in a child with disorder of sex development and central precocious puberty

Luppino Giovanni , Corica Domenico , Valenzise Mariella , Briguglia Silvana , Bertelloni Silvano , Li Pomi Alessandra , Wasniewska Malgorzata , Aversa Tommaso , Christian Denzer , Martin Wabitsch

Background: Disorders of sex development (DSD) are often due to disruption of the genetic programs that regulate gonad development. Some genes have been identified in these developmental pathways such as DAX-1, SOX-9, GATA-4 and others. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Congenital heart disease (CHD) and...

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hrp0097p1-565 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Insights into pubertal development among individuals with NR5A1/SF-1 variants: Results from the international SF1next study

Kouri Chrysanthi , Sommer Grit , Martinez de LaPiscina Idoia , E. Flück Christa

Background: NR5A1/SF-1 variants result in a wide range of phenotypes including DSD, male infertility, and primary ovarian insufficiency (POI). Little is known of how NR5A1/SF-1 variants affect puberty in individuals with or without DSD. This study aimed to assess the impact of NR5A1/SF-1 variants on pubertal development and investigate whether abnormal puberty is linked to the severity of DSD in an international cohort with NR5A1...

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hrp0097p1-566 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Inhibin A (INHA) and steroidogenic factor 1 (SF-1/NR5A1) collaborate in regulating human sex development.

Naamneh Elzenaty Rawda , Sara Sauter Kay , Kouri Chrysanthi , Martinez de Lapiscina Idoia , E. Flück Christa

Background: Inhibin consists of two homologous subunits, the α (INHA) and the βA or βB subunits (INHBA/INHBB). Both inhibins play an important role in the hypothalamic-pituitary-gonadal axis by regulating the follicle stimulating hormone levels. INHA knockout mice develop mixed or incompletely differentiated gonadal stromal tumours. In females, some INHA variants have been associated with primary ova...

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hrp0097p1-567 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

An International Delphi Based Study For Developing A Core Outcome Set For Hypospadias Surgery

Leunbach Tina. , Yankovic Francisca , Springer Alexander , Wisniewski Amy , Burgu Berk , Shnorhavorian Margarett , Braga Luis , Ernst Andreas , Lucas-Herald Angela , O'Toole Stuart , Faisal Ahmed S. , F. Rawashdeh Yazan

Background: Heterogeneity in reported outcomes limits the ability to compare results of studies evaluating hypospadias surgery.Objective: To identify a core outcome set (COS), a minimal number of defined outcomes, to be routinely measured and reported in all trials across the age span following hypospadias surgery.Materials and Methods: A study protocol was drafted and the study re...

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hrp0097p1-568 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Impact of unilateral ovariectomy on ovarian function and pubertal development in girls with Turner syndrome

van der Coelen Sanne , Nadesapillai Sapthami , Peek Ronald , Braat Didi , Fleischer Kathrin , van der Velden Janielle

Background: A reduced reproductive lifespan is one of the most significant implications for girls with Turner syndrome (TS) and is due to an accelerated loss of ovarian insufficiency. Lately, there has been a surge in scientific research aimed at whether ovarian tissue cryopreservation (OTC) is a viable option for fertility preservation in girls with TS. This required a unilateral ovariectomy for girls with TS who may already have a poor ovarian reserve.<p...

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hrp0097p1-569 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

National service evaluation project analysing the quality of care for children and young people with congenital adrenal hyperplasia in the United Kingdom: Data from patients and clinicians

Bacila Irina , R Lawrence Neil , Ji Xiaochen , Faisal Ahmed S , Alvi Sabah , Bath Louise , Blair Jo , Cheetham Tim , Crowne Liz , H Davies Justin , Dattani Mehul , Gevers Evelien , Krone Ruth , Patel Leena , Thankamony Ajay , Randell Tabitha , Ryan Fiona , Elford Sue , Blackett Sallyann , P Krone Nils

Background: The variation in the provision of services in secondary and tertiary care for children and young people living with CAH in the United Kingdom is unknown. We aimed to conduct a nationwide service evaluation to inform from both the patient and clinician perspective.Methods: We conducted an anonymous multicentre survey using online questionnaires for clinicians and CAH patients/carers. Clinical leads from UK cen...

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hrp0097p1-570 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Elucidating The Genetic Basis of Human Disorders of Sex Development Using Clinic-To-Bench Approach

Florsheim Natan , Renbaum Paul , Levy-Lahad Ephrat , Zangen David

Background: Diseases of sex development (DSD) are rare heterogeneous disorders ranging from infertility (an estimated 15% of couples worldwide have difficulty conceiving), to severe cases including ambiguous genitalia, sex reversal, and gonadal dysgenesis. The genetic basis of DSD remains unknown in 50% of the severe cases. To identify novel genetic causes of DSD, we are investigating patients in which known causative genes have been excluded. Identifying new ...

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hrp0097p1-571 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Early and long-term gender-affirming treatment does not alter final height in transgender youth

Ciancia Silvia , Klink Daniel , Craen Margarita , Cools Martine

Keywords: transgender, GnRH agonists, gender affirming hormones, final height, growth, pubertyBackground: Trans boys (TB) and trans girls (TG) who start medical gender-affirming treatment at Tanner stage 2-3 undergo early puberty suppression (ePS) with Gonadotropin-Releasing Hormone agonists (GnRHa) for several years and subsequently receive gender-affirming hormones (GAH), around 15-16 years. This treatment clearly inte...

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hrp0097p1-572 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Prospective Surveillance Of Gonadectomy In DSD – An I-DSD Care Quality Improvement Project

K Lucas-Herald Angela , Bryce Jillian , H Davies Justin , Shnorhavorian Margarett , Globa Evgenia , Grinspon Romina , Guerra-Junior Gil , Janus Dominika , Faisal Ahmed S , O'Connell Michele , Gonadectomy Surveillance Consortium I-DSD

Introduction: Gonadectomy may be indicated in people with differences or disorders of sex development (DSD). Based on historical data from the International-DSD (I-DSD) Registry that showed considerable practice variation, this I-DSD care quality improvement project seeks to determine, through prospective surveillance, the frequency of gonadectomy in individuals with DSD internationally.Methods: All existing I-DSD centre...

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hrp0097p1-573 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Testosterone therapy in Duchenne Muscular Dystrophy and longitudinal bone growth with metacarpophalangeal index

McCauley Cara , Dunne Jennifer , Horrocks Iain , Joseph Shuko , Choong Wong Sze

Background: Testosterone therapy is recommended for management of puberty from the age of 12 years in boys with Duchenne Muscular Dystrophy(DMD) in accordance with the 2018 international standards of care. The majority of boys loose ambulation in mid to late adolescence. Height measurement is problematic in these adolescents s as lower limb contracture can be common and estimated height from segmental body part measurements generally over-estimate height.<...

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hrp0097p1-574 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Gonadal histopathology in 17beta-HSD deficiency and 5alpha-reductase deficiency

Boogers L.S. , Brüggenwirth H.T. , van Bever Y. , Hersmus R. , Bryce J. , Ahmed S.F. , Lucas-Herald A.K. , Baronio F. , Cools M. , Ellaithi M. , Globa E. , Güran T. , Hiort O. , Holterhus P.M. , MсElreavey K. , Niedziela M. , Stancampiano M.R. , Tosun B.G. , Wolffenbuttel K.P. , Oosterhuis J.W. , Looijenga L.H.J. , Hannema S.E.

Introduction: In various forms of XY disorders/differences of sex development (DSD) the risk of germ cell cancer is increased. In the 2006 DSD consensus statement this risk was estimated to be intermediate in 17beta-HSDtype3 deficiency (HSD17B3D) and low in 5alpha-reductasetype2 deficiency (SRD5A2D) but based on very few cases. Few studies have been performed since; therefore we aimed to review gonadal pathology in an international cohort with these conditions...

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hrp0097p1-575 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Gender-Dysphoric Austrian Youth Seeking Gender Affirming Hormonal Therapy: Baseline Somatic and Psychosocial Health, Gender Affirming Treatment Trajectories and Fertility Preservation Rates

Steininger Johanna , Knaus Sarah , Kaufmann Ulrike , Riedl Stefan

Objectives: The aim of this study is to describe the clinical characteristics of Austrian children and adolescents with gender dysphoria seeking gender affirming medical care, as well as their treatment trajectories.Methods:In this retrospective study at a large university hospital, a chart review of all patients presenting with gender dysphoria at the pediatric outpatient clinic for differences in sex development betwee...

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hrp0097p1-576 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Transition from Paediatric to Adult Care in Differences of Sex Development (DSD) – Results from the German Network “DSDCare”

Döhnert Ulla , Helge Kathrin-Bettina , Reisch Nicole , Ellerkamp Verena , Kutscheidt Ronja , Kumst Anjo , Roggemann Eleonore , Jürgensen Martina , Balke Thomas , Heidenreich Andreas , Hiort Olaf

Introduction: The aim of the project “DSDCare” is to implement standardized care for people with DSD following national and international guidelines and to evaluate structural, process and outcome quality of care at 10 specialized centres in Germany from May 2020 till June 2023. Transition from paediatric to adult care is a crucial phase in chronic and rare conditions. In DSD, “loss to follow-up” is usually not associated with acute com...

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hrp0097p1-577 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

High carrier frequency of a splicing c.589G>A variant in the SRD5A2 gene among Buryats

Makretskaya Nina , Nanzanova Ulyana , Kalinchenko Natalia , Hamaganova Irina , Eremina Elena , Filatova Alexandra , Skoblov Mikhail , Tiulpakov Anatoly

Background: 5-α-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during the fetal period. From 2017 to 2019, a homozygous hg38_chr2:31529414 C>T variant in SRD5A2 gene have been identified in 3 unrelated patients with DSD 46,XY of Buryat origin. The variant has been previously reported in one patient from China (Song et al, 2019) and l...

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hrp0097p1-578 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Klinefelter Syndrome and Fertility - Current practice in a tertiary Children’s Hospital

Alexopoulou Vasiliki , Bambang Katerina , Senniappan Senthil

Background: Klinefelter Syndrome (KS) is the most common chromosomal anomaly in males associated with infertility. Advances in assisted reproductive medicine have made conception possible for some men with KS, with increasing scientific interest gathered around semen cryopreservation and testicular biopsy for sperm extraction (TESE).Objectives: This project aims to examine the current practice in a paediatric tertiary ho...

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hrp0097p1-579 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Comparison between clinical, metabolic and hormonal parameters in adolescent girls with hyperandrogenism and healthy controls

Mladenov Vilhelm , Galcheva Sonya , Karamfilova Teodora , Bocheva Yana , Ivanova Darina , Iotova Violeta

Background: Polycystic ovary syndrome (PCOS) and non-classical congenital adrenal hyperplasia (NCCAH) are the most common hyperandrogenic disorders in adolescent girls. Though their etiology and pathogenesis differ, there is a significant overlap between physiological, clinical and hormonal findings and physiological phenomena. Adult patients with PCOS have increased prevalence of obesity, metabolic disturbances, increased cardiovascular risk, risk of impaired...

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hrp0097p1-580 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Characteristics and Hormonal Use Patterns among Transgender Female Youth in Thailand: Findings from a Community-Based Survey

Bongsebandhu-phubhakdi Chansuda , Prownpuntu Thitaporn , Aungkawattanapong Nadvadee

Background: Transgender youth in Thailand often encounter limitations when accessing gender services, leading many to use non-prescribed hormones. However, there is limited information available on the specific types of hormones used by this population.Objectives: This study aimed to investigate the characteristics of transgender female youth in Thailand and the types of hormones they use.M...

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hrp0097p1-581 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A dual centre evaluation of discontinuation of testosterone therapy in boys with Duchenne Muscular Dystrophy

Choong Wong Sze , Loughnan Myles , Zacharin Margaret

Background: The 2018 international standards of care for DMD recommend initiating testosterone for management of delayed puberty commencing at a low dose, gradually increasing to adult replacement. No recommendations exist regarding longer term use of testosterone during transition and adulthood.Aim(s): To report long-term use of testosterone in DMD with outcomes of gonadal function and pubertal development in those who ...

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hrp0097p1-582 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Coexisting Disorder of Sex Development and Gender Dysphoria: A case report about an individual with Turner syndrome receiving first female and subsequent male hormone replacement therapy

Herrmann Gloria , Bundschu Karin , Allroggen Marc , Wabitsch Martin

Introduction: Disorders of sex development (DSD) refer to a group of conditions, including Turner syndrome in which an individual's physical sex characteristics do not conform to typical male or female patterns, including a range of differences in chromosomes, hormones and anatomy. Gender-specific problems are usually not prominent, compared to other forms of DSD. Gender dysphoria (GD) is a discomfort between a person’s assigned sex based on physica...

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ESPE Abstracts

61st Annual ESPE (ESPE 2023)

BiosciAbstracts