Gonads & DSD P1

hrp0086p1-p335 | Gonads & DSD P1 | ESPE2016

Complete Androgen Insensitivity Syndrome Caused by a Deep Intronic Pseudoexon-Activating Mutation in the Androgen Receptor Gene

Kansakoski Johanna , Jaaskelainen Jarmo , Jaaskelainen Tiina , Tommiska Johanna , Saarinen Lilli , Lehtonen Rainer , Hautaniemi Sampsa , Frilander Mikko J. , Palvimo Jorma J. , Toppari Jorma , Raivio Taneli

Background: Androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and to mild (MAIS) forms of androgen resistance, is caused by mutations in the X-linked AR gene that encodes the androgen receptor. Some cases, however, remain without a molecular genetic diagnosis that would confirm the diagnosis especially in cases that have phenotypic similarities with other 46,XY disorders of sex development.Objective and hypoth...

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hrp0086p1-p336 | Gonads & DSD P1 | ESPE2016

Polycystic Ovary Syndrome in Adolescence: New Therapeutic Approach with Inositol and Alpha-Lipoic Acid

Torge Nunzia , Iezzi Maria Laura , Varriale Gaia , Farello Giovanni , Basti Claudia , Zagaroli Luca , Lasorella Stefania , Verrotti Alberto

Background: Polycystic Ovary Syndrome (PCOS) is characterized by clinical and/or biochemical hyperandrogenism, oligo-anovulation and/or ultrasound finding of polycystic ovaries. Insulin-resistance represents the etiopathogenetic key of PCOS: a deficit of Inositols tissue availability seems to be responsible for this clinical picture. Hyperglycemia resulting insulin-resistance, determines a state of chronic inflammation, which increases oxidative stress.<p class="abst...

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hrp0086p1-p337 | Gonads & DSD P1 | ESPE2016

46,XY Partial Gonadal Dysgenesis Caused by an Xp21.2 Interstitial Duplication that Does not Encompass the NR0B1 Gene

dos Santos Ana Paula , Piveta Cristiane dos Santos Cruz , de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , Lopes Vera Lucia Gil da Silva , Junior Gil Guerra , Guerra Andrea Trevas Maciel , Mello Maricilda Palandi

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

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hrp0086p1-p338 | Gonads & DSD P1 | ESPE2016

Primary Ovarian Insufficiency in Childhood Cancer Survivors: A Report from the St Jude Lifetime Cohort (SJLIFE)

Chemaitilly Wassim , Li Zhenghong , Krasin Matthew , Wilson Carmen , Green Daniel , Klosky James , Barnes Nicole , Clark Karen , Frenandez-Pineda Israel , Metzger Monika , Ching-Hon Pui , Kirsten Ness , Kumar Srivastava Deo , Robison Leslie , Hudson Melissa , Sklar Charles , Yasui Yutaka

Background: Primary Ovarian Insufficiency (POI) and infertility are common concerns of female Childhood Cancer Survivors (CCS) and are known to impact their quality of life. Increased availability of fertility preservation techniques mandate a better understanding of risk factors for POI in this population.Objective and hypotheses: To describe the prevalence of and risk factors for POI in a cohort of adult CCS.Method: Cross-section...

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hrp0086p1-p339 | Gonads & DSD P1 | ESPE2016

Global and Sexual Quality of Life in Patients with Rokitanski Syndrome: A Comparative Study Between Surgical vs Non Surgical Management of Vaginal Agenesis in a French Cohort of 130 Patients

Bidet Maud , Cheikhelard Alaa , Christine Louis-Sylvestre , Jean Paniel Bernard , Karine Morcel , Magali Viaud , Amandine Baptiste , Caroline Elie , Yves Aigrain , Michel Polak

Background: Vaginal agenesis (VA) in MRKH syndrome can be managed either by surgery or autodilatations.Objective and hypotheses: To compare different managements of MRKH-VA in terms of quality of life, sexual function, anatomical results and complications.Method: National Multicentric observationnal study including 130 patients older than 18, at least one year after completing VA management, from October 2012 to April 2015. 84 had ...

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hrp0086p1-p340 | Gonads & DSD P1 | ESPE2016

Intrauterine Growth Restriction Affects Postnatal Testis Maturation in Rats

Pampanini Valentina , Germani Daniela , Puglianiello Antonella , Stukenborg Jan-Bernd , Reda Ahmed , Savchuk Iuliia , Kjartansdottir Ros , Cianfarani Stefano , Soder Olle

Background: The influence of intrauterine life on long term health is supported by a wealth of epidemiological and experimental studies. A low oxygen and/or nutrient supply to the fetus, resulting in intrauterine growth restriction (IUGR), may affect gonadal development of the offspring, with a potential impact on fertility. Data derived from animal models of placental insufficiency are very limited.Objective and hypotheses: To investigate the effects of...

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hrp0086p1-p341 | Gonads & DSD P1 | ESPE2016

Application of on Line Learning in Assessment of Competencies of Fellows Pediatric Endocrinology

Kranenburg Laura , Reerds Sam , Cools Martine , Muscarella Miriam , Grijpink Kalinka , Quigley Charmian , Drop Stenvert

Background: The European Society for Paediatric Endocrinology (ESPE) developed an interactive e-learning portal for pre-and postdoctoral training: (www.espe-elearning.org).Objective and hypotheses: The aim of the study was to evaluate the role of e-learning in the formative assessment of competencies (medical expert, communicator) of fellows in pediatric endocrinology in informing patients and parents with a di...

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hrp0086p1-p342 | Gonads & DSD P1 | ESPE2016

Genotype-phenotype Analysis of NR5A1/SF1 Mutations by Functional in vitro Studies

Astudillo Rebekka , Bashamboo Anu , Kleinau Gunnar , Biebermann Heike , Krude Heiko , Kohler Birgit

Background: The steroidogenic Factor 1 (SF1, NR5A1) is one of the key factors involved in gonadal and adrenal development and steroidogenesis. Until now, over 50 mutations were described in different phenotypes of XY disorders of sex development (DSD) such as complete gonadal dysgenesis, severe and mild partial gonadal dysgenesis, hypospadias, infertility and bilateral anorchia. So far, no genotype-phenotype correlation could be demonstrated.Objective an...

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hrp0086p1-p343 | Gonads & DSD P1 | ESPE2016

Evolution of Bone Mass and Body Composition in Gender Dysphoric Adolescents Treated with Progestins to Suppress Endogenous Hormones

Tack Lloyd , Craen Margarita , Lapauw Bruno , Goemaere Stefan , Toye Kaatje , Kaufman Jean-Marc , Vandewalle Sara , Zmierczak Hans-Georg , Cools Martine

Background: In gender dysphoric (GD) adolescents with advanced pubertal development, psychological relief can be attained with progestins, which are much cheaper and easier to administer than GnRHa. Moreover, use of GnRHa has been shown to interfere with pubertal bone mass accrual. To date, few data exist on the effects of progestins on body composition (BC) and bone parameters in this population.Objective and hypotheses: To explore the effects of pro- a...

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hrp0086p1-p344 | Gonads & DSD P1 | ESPE2016

Sertoli Cell Function During Chemotherapy in Pediatric Patients with Acute Lymphoblastic Leukemia

Grinspon Romina P. , Arozarena de Gamboa Maria , Prada Silvina , Gutierrez Marcela E. , Bedecarras Patricia , Aversa Luis , Rey Rodolfo A.

Background: Most reports on gonadotoxicity associated with chemotherapy of acute lymphoblastic leukemia (ALL) comes from studies in adults, and they are mainly focused on the sensitivity of testicular germ cells. Little attention has been placed on Sertoli cells in prepubertal patients, even though Sertoli cell function is essential for adult spermatogenesis.Objective: To evaluate Sertoli cell function in prepubertal boys who receive chemotherapy for ALL...

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hrp0086p1-p345 | Gonads & DSD P1 | ESPE2016

Accuracy of Pelvic MRI in Evaluating Internal Genitalia in Patients with Disorders of Sex Development

Mahfouz El Nachar Linda , Rekik Djalal , Peycelon Matthieu , Leger Juliane , Paye-Jaouen Annabel , Alison Mariane , El Ghoneimi Alaa , Carel Jean-Claude , Martinerie Laetitia

Background: Patients with disorders of sex development (DSD) require multidisciplinary team management for etiology identification and gender assignment. Identification of mullerian structures is an important part of the evaluation process. Ultrasonography remains the first-line imaging modality to delineate mullerian structures; while the importance of magnetic resonance imaging (MRI) is insufficiently studied.Objective and hypotheses: To evaluate the d...

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hrp0086p1-p346 | Gonads & DSD P1 | ESPE2016

Using Public Databases, ‘Virtual Controls’ and Geolocalization to Search for Environmental Correlates of Hypospadias

Valleron Alain-Jacques , Esterle Laure , Mouriquand Pierre , Meurisse Sofia , Valtat Sophie , Urology Centers HYPOCRYPT Network , Bougneres Pierre

Background: Incidence of hypospadias varies considerably across countries, ranging from 4 to 43 cases per 10,000 births. Environmental factors might explain these differences. The classical approach is to use case-control studies to identify these factors. However, this approach suffers from the unavoidable arbitrariness of the definition of controls, and of recall bias.Objective and hypotheses: To identify environmental markers of the place of birth of ...

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hrp0086p1-p347 | Gonads & DSD P1 | ESPE2016

The International AGD Consortium: A Multi-center Study of 3939 Infants and Children with Anogenital Distance Measurements

Lindhardt Johansen Marie , Thankamony Ajay , Acerini Carlo , Kold Jensen Tina , Main Katharina M. , Holm Petersen Jorgen , Swan Shanna , Juul Anders

Background: The anogenital distance (AGD) is considered a valid marker of altered androgen action in utero. Recently, reduced AGD has been shown in males with hypospadias, cryptorchidism, reduced semen quality and infertility. It has also been proposed as a new marker to be used by clinicians when managing patients with Disorders of Sex Development. However, little normative data exist and measurement methods vary.Objective and hypotheses: We established...

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hrp0086p1-p348 | Gonads & DSD P1 | ESPE2016

Exonic Splicing Mutations by Silent Nucleotide Variation in the Androgen Receptor Gene Causes Androgen Insensitivity Syndrome

Loch Batista Rafael , de Santi Rodrigues Andreza , Evilen da Silva Tathiana , Siqueira Cunha Flavia , Lisboa Gomes Nathalia , Rodrigues Daniela , Domenice Sorahia , Frade Costa Elaine , Bilharinho de Mendonca Berenice

Background: Androgen Insensitivity Syndrome is a common form of 46,XY DSD. In the literature, 8590% of patients with complete form of Androgen Insensitivity (CAIS) and 30% of patients with parcial form (PAIS) have the AR gene mutation identified, In most cases are found a missense mutation with aminoacid change. Mutations without aminoacid changes (silent mutations) are rarely related to human diseases and have never been identified in patients with CAIS.<p class="ab...

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hrp0086p1-p349 | Gonads & DSD P1 | ESPE2016

Severe 5 Alpha Reductase 2 Deficiency with Aphallia is Caused by p.Y91H SRD5A2 Mutation and is Responsive to Dihydrotestosterone Administration During Childhood

Auerbach Adi , Weinberg Shokrun Ariella , Abdelhak Najwa , Lavi Eran , Hidas Guy , Landau Yehezkel , Levy-Lahad Ephrat , Zangen David

Background: 5-alpha-reductase-2 (5α-RD2) deficiency is an autosomal recessive 46,XY disorder of sexual development, characterized by undervirilized prepubertal males with ambiguous genitalia. The pubertal rise in testosterone and 5α-RD1 isoenzyme activity causes virilization, often resulting in gender assignment change. Early precise diagnosis which anticipate adult function is critical for treatment and gender assignment.Objective and hypothes...

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hrp0086p1-p350 | Gonads & DSD P1 | ESPE2016

Clinical History and High Prevalence of Gonadal Tumor in 14 Patients with 46 XY Pure Gonadal Dysgenesis

Sechter-Mavel Claire , Cartigny Maryse , Pinto Graziella , Bidet Maud , Catteau-Jonard Sophie , Robin Geoffroy , Dewailly Didier , Aigrain Yves , Blanc Thomas , Morel Yves , Weill Jacques , Polak Michel , Samara-Boustani Dinane

Background: Pure gonadal dysgenesis 46 XY is a rare form of sexual differentiation disorders.Objective and hypotheses: This study describes the diagnosis circumstances, clinical, biological and radiological presentation, and genetic aetiology of 14 patients with a 46 XY pure gonadal dysgenesis.Method: It is a retrospective descriptive multicenter study from Necker Hospital (Paris) and Lille university hospitals.<p class="abstex...

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hrp0086p1-p351 | Gonads & DSD P1 | ESPE2016

Abstract withdrawn....

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hrp0086p1-p352 | Gonads & DSD P1 | ESPE2016

A Multicenter Study on Long-Term Outcomes in 56 Males with 45,X/46,XY Mosaicism

Johansen Marie Lindhardt , Acerini Carlo , Andrade Juliana , Balsamo Antonio , Cools Martine , Cuccaro Rieko Tadokoro , Darendeliler Feyza , Fluck Christa E , Grinspon Romina , Guran Tulay , Hannema Sabine , Lucas-Herald Angela K , Hiort Olaf , Lichiardopol Corina , Ortolano Rita , Riedl Stefan , Ahmed S Faisal , Juul Anders

Background: 45,X/46,XY mosaicism is a rare karyotype with a broad phenotypic variation. In patients with a male or predominantly male phenotype, impaired genital development and statural growth have been observed, but little is known about long-term outcomes. Larger multicenter studies are needed.Objective and hypotheses: The aim of this study is to investigate long-term outcomes, namely gonadal function, growth and co-morbidities, in a larger group of m...

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hrp0086p1-p353 | Gonads & DSD P1 | ESPE2016

Familial Testotoxicosis: Outcome and Possible Relation to Testicular Malignancies

Hovinga Idske Kremer , Stuart Annemarie Verrijn

Background: Testotoxicosis or familial male-limited precocious puberty (FMPP) is a rare disease caused by an autosomal dominant activating mutation of the luteinizing hormone receptor gene, leading to early gonadotrophin-independent precocious puberty. Phenotypic expression is limited to males. Treatment evolved over the last decades and nowadays consists of a combination of a potent anti-androgen agent and a third-generation aromatase inhibitor. Since the identification of et...

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hrp0086p1-p354 | Gonads & DSD P1 | ESPE2016

Psychological Impact in Young Women of Announcement of a Utero-Vaginal Malformation (Mayer-Rokitansky-Küster-Hauser – MRKH Syndrome) and its Treatment

Gueniche Karinne , Ouallouche Chloe , Nataf Nicole , Bidet Maud , Cheikhelard Alaa , Paniel Bertrand-Jean , Louis-Sylvestre Christine , Morcel Karine , Viaud Magali , Elie Caroline , Baptiste Amandine , Aigrain Yves , Polak Michel

Background: Few studies have addressed the question of psychological impact and long term outcomes in MRKH patients.Objective and hypotheses: Our national multi-centric study aimed to assess MRKH patients experience concerning diagnostic announcement, treatment perception, impact on psychic functioning, socio-professional integration, affective and sexual life and quality of life.Method: First 40 MRKH patients aged 1934...

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hrp0086p1-p355 | Gonads & DSD P1 | ESPE2016

Mutations at the SF-1 Ligand-Binding Domain Can Lead to Different Effects on DNA Binding: Report of Two Novel Mutations

Fabbri Helena Campos , Werner Ralf , Guerra-Junior Gil , Maciel-Guerra Andrea Trevas , Andrade Juliana Gabriel Ribeiro de , Hiort Olaf , Mello Maricilda Palandi de

Background: Steroidogenic factor-1 (SF-1), denominated as nuclear receptor subfamily five group A member 1 (NR5A1), is an orphan receptor that regulates several steps of adrenal and gonadal development. Mutations in its gene are responsible for different phenotypes of disorders of sex development (DSD).Objective and hypotheses: To study the functional impact of two novel NR5A1 mutations, the p.C247* and p.K396Rfs*34, both identified within the l...

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hrp0086p1-p356 | Gonads & DSD P1 | ESPE2016

A New International Registry Highlights the Differences in Practice for Reaching a Diagnosis of CAH – On Behalf of the I-CAH/I-DSD Registry User Group

Kourime Mariam , Bryce Jillian , Jiang Jipu , Karunasena Nayananjani , Guran Tulay , Hannema Sabine Elisabeth , Cools Martine , Van Der Grinten Hedi L Claahsen , Krone Nils , Darendeliler Feyza , Balsamo Antonio , Bonfig Walter , Nordenstrom Anna , Hiort Olaf , Dagmar Lallemand , Ross Richard , Ahmed Syed Faisal , Koehler Birgit , Acerini Carlo , Mendonca Berenice B , Bertelloni Silvano , Lisa Lidka , Bonfig Walter , Elsedfy Heba , Marginean Otilia

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...

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hrp0086p1-p357 | Gonads & DSD P1 | ESPE2016

Changes in Adrenal Steroids During Puberty Suppression and Cross Sex Hormone Treatment in Gender Dysphoric Adolescents

Schagen Sebastian , Lustenhouwer Paul , Hannema Sabine

Background: Current guidelines recommend that gender dysphoric adolescents be treated with puberty suppression using gonadotropin releasing hormone analogues (GnRHa) followed by cross sex hormones. However limited data are available on the safety and side effects of this treatment. In adults changes in adrenal steroids have been observed during cross sex hormone treatment.Objective and hypotheses: We aimed to investigate the effect of GnRHa and cross sex...

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hrp0086p1-p358 | Gonads & DSD P1 | ESPE2016

Do the Anti-Mullerian Hormone Levels of Adolescents with Polycystic Ovarian Syndrome (PCOS), Those Who Are at Risk for Developing PCOS, and Those Who Exhibit Isolated Oligomenorrhea Differ from those of Adolescents with Normal Menstrual Cycles?

Savas-Erdeve Senay , Keskin Meliksah , Sagsak Elif , Cenesiz Funda , Cetinkaya Semra , Aycan Zehra

Background: An elevated anti-Müllerian hormone (AMH) level might serve as a noninvasive screening or diagnostic test for PCOS in adolescents.Objective and hypotheses: We explored whether the AMH levels of adolescents with PCOS, at-risk-of-PCOS, and isolated oligomenorrhea, differed from those of adolescents with normal menstrual cycles, and we identified an AMH level that was potentially diagnostic of PCOS.Method: ...

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hrp0086p1-p359 | Gonads & DSD P1 | ESPE2016

Feasibility Study for Avoiding Early Surgery in Girls with 21-Hydroxylase Deficiency (21OHD)

Bougneres Pierre , Bouvattier Claire , Cartigny Maryse , Michala Lina

Background: Genital surgery in disorders of sex development (DSD) has been an area of debate over the past 20 years. One can question and even defy the routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence.Objective and hypotheses: To a...

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hrp0086p1-p360 | Gonads & DSD P1 | ESPE2016

A Novel Familial Androgen Receptor Mutation (W752G) in Complete Androgen Insensitivity Syndrome: Use of in vitro Study According to the Nature of Amino Acid Substitution

Paris Francoise , Gaspari Laura , Boulahtouf Abdel , Kalfa Nicolas , Sultan Charles , Balaguer Patrick

Background: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development and are associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome) to milder degrees of undervirilization (partial and mild forms).Aims and objectives: To specify how a phenotype-genotype correlation can be refined by in vitro study based on the nature of amino acid substitutio...

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hrp0086p1-p361 | Gonads & DSD P1 | ESPE2016

Partial and Mixed Gonadal Dysgenesis Cannot be Distinguished by Histological Picture: Clinical Evaluation, Histological Differences and Long-Term Follow up of 61 Brazilian Patients

de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , dos Santos Ana Paula , de Faria Antonia Paula Marques , Mello Maricilda Palandi , Guerra-Junior Gil , Maciel-Guerra Andrea Trevas

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...

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hrp0086p1-p362 | Gonads & DSD P1 | ESPE2016

Aromatase Activity is Disrupted by Mutations in P450 Oxidoreductase

Udhane Sameer S. , Parween Shaheena , Pandey Amit V.

Background: The steroidogenic enzyme aromatase (CYP19A1) is a protein located in endoplasmic reticulum (ER) that catalyzes the conversion of androgens to estrogens. Both deficiency and excess of aromatase activity lead to disease states implicating its role in human biology. Cytochrome P450 (CYP) enzymes in ER use reduced nicotinamide adenine dinucleotide phosphate through cytochrome P450 oxidoreductase (POR) for their metabolic activities. Mutations in POR cause disorders of ...

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hrp0086p1-p363 | Gonads & DSD P1 | ESPE2016

Mosaic Xq Partial Duplication Leading to Virilisation of an Adolescent Female

Baranowski Elizabeth , Chizo Agwu Juliana

Background: We present a 17-year-old female who presented with a 1 year history of hirsutism, male pattern baldness, marked cystic acne and mild cliteromegaly. She had her menarche at the age of 15 years and continued thereon to have a regular menstrual cycle. She was pubertal on examination (B3, P5, A5) with no neurological deficit.Objective and hypotheses: This female presented with marked clinical hyperandrogenism. We initially suspected polycystic ov...

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hrp0086p1-p364 | Gonads & DSD P1 | ESPE2016

Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX)

Baldazzi Lilia , Menabo Soara , Baronio Federico , Ortolano Rita , Cassio Alessandra , Mazzanti Laura , Balsamo Antonio

Background: Differences of sex development (DSDs) (conditions with atypical development of chromosomal, gonadal or anatomic sex) are classified into three groups: sex chromosome DSD, 46,XYDSD and 46,XX DSD. Around 1 newborn in 5000 presents ambiguous genitalia with a major challenge for male or female assignment. The identification of a genetic cause can contribute to a correct diagnosis and to optimize both management and genetic counselling.<p class="abs...

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hrp0086p1-p365 | Gonads & DSD P1 | ESPE2016

Functional Studies of a New Mutation in the LH/CG Receptor Gene Identified in 2 Sisters with 46,XY DSD

Flieger Susanne , Neuhaus Nina , Strom Tim , Henrichs Ivo , Johren Olaf , Gromoll Jorg , Hiort Olaf , Werner Ralf

Background: Disorders (or differences) of sex development (DSD) are rare congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is important for male sex development. LHCGR mutations can cause Leydig cell hypoplasia, which is an autosomal recessive disorder.Objective and hypotheses: We found two heterozygous mutations in the LHCGR, a n...

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hrp0086p1-p366 | Gonads & DSD P1 | ESPE2016

Consecutive Lynestrenol and Cross-Sex Hormone Treatment in Biological Female Adolescents with Gender Dysphoria: A Retrospective Analysis

Tack Lloyd , Craen Margarita , Dhondt Karlien , Vanden Bossche Heidi , Laridaen Jolien , Cools Martine

Background: Progestins such as lynestrenol (L) can be used in female to male (FtM) adolescents with gender dysphoria (GD) who have advanced pubertal development to reduce the psychological burden of menstruation. L can later be combined with cross-sex hormones (testosterone esters) (L+T). L is much cheaper and easier to administer than GnRHa. To date, few data exist on the (side) effects of progestins for this indication.Objective and hypotheses: To repo...

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hrp0086p1-p367 | Gonads & DSD P1 | ESPE2016

Ovarian Reserve Assessment in Girls and Women after Hematopoietic Stem Cell Transplantation Treatment Underwent in Childhood

Wedrychowicz Anna , Wojtys Joanna , Starzyk Jerzy B.

Background: Hypogonadism is one of the most frequent endocrine complication after hematopoietic stem cell transplantation (HSCT). In some patients hypogonadism could be transient, but very often coexists with prematury ovarian failure. Classical methods used in the diagnostics of hypogonadism have limitations for the prognosis of ovarian reserve.Objective: The aim of the study was to assess ovarian reserve in patients after HSCT using ev...

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hrp0086p1-p368 | Gonads & DSD P1 | ESPE2016

Precocious/Early and Accelerated Puberty in a Boy with a Homozygous R192C Mutation in CYP19 (Aromatase) Gene

Costanzo Mariana , Guercio Gabriela , Garcia-Feyling Jose , Saraco Nora , Marino Roxana , Perez Garrido Natalia , Manuel Lazzati Juan , Maceiras Mercedes , Aurelio Rivarola Marco , Belgorosky Alicia

Background: Aromatase deficiency is a rare autosomal recessive disorder produced by CYP19 gene mutations. 46XX affected patients presented with ambiguous genitalia leading to early identification. Most 46XY affected patients presented normal external genitalia and the condition often remains undiagnosed until late puberty. Information on pubertal development in affected boys is scarce since to the present date only two patients, younger than 4 years of age, without lo...

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hrp0086p1-p369 | Gonads & DSD P1 | ESPE2016

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Accordingly Gender Assignment

Gomes Nathalia , Costa Elaine , Zamboni Aline , Nishi Mirian , Batista Rafael , Cunha Flavia , Inacio Marlene , Domenice Sorahia , Mendonca Berenice

Background: Studies on the follow-up of 46,XY partial gonadal dysgenesis (PGD) patients till adulthood are scarce and it is important to provide information to parents on the prognosis of gonadal dysgenesis.Objective and hypotheses: To analyze the long term outcomes of 46XY PGD patients in both social sexes regarding testosterone production, social sex adaption and genotype.Method: Retrospective longitudinal study conducted at Hosp...

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hrp0086p1-p370 | Gonads & DSD P1 | ESPE2016

45,X/46,XY Chromosomal Disorders of Sex Development: Experience from a Cohort of 50 Patients Followed in One Single Institution

Costanzo Mariana , Guercio Gabriela , Geniuk Nadia , Berensztein Esperanza , Manuel Lazzati Juan , Maceiras Mercedes , Zaidman Veronica , Aurelio Rivarola Marco , Belgorosky Alicia

Background: Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. 45,X/46,XY mosaicism results in a large clinical spectrum of DSD including from female patients with Turners syndrome to normal appearing males.Objective and hypotheses: The main aim of this study is to review the clinical and gonad histological findings in a cohort of chromosomal DSD patients f...

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hrp0086p1-p371 | Gonads & DSD P1 | ESPE2016

Androgen Profile Differs to Adults in Adolescent Girls with Polycystic Ovary Syndrome

Frerichs Carley , Das Urmi , Garden Ann , Williams Cara , Dharmaraj Poonam , Didi Mohammed , Ramakrishnan Renuka , Blair Jo

Background: Diagnostic criteria for polycystic ovarian syndrome (PCOS) are well established in the adult population, but may not be appropriate for adolescent girls. Clinical and/or biochemical hyperandrogenism is one important diagnostic criterion. Screening for hyperandrogenism is often restricted to measurements of testosterone in adult practice. It was our impression that this strategy would under-diagnose PCOS in our adolescent population.Objective ...

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hrp0086p1-p372 | Gonads & DSD P1 | ESPE2016

Effects and Side Effects of Cyproterone Acetate Alone and in Combination with Estrogens in Natal Male Adolescents with Gender Dysphoria

Tack Lloyd , Craen Margarita , Dhondt Karlien , Bossche Heidi Vanden , Laridaen Jolien , Cools Martine

Background: Male to female (MtF) gender dysphoric adolescents with advanced pubertal development can be treated with antiandrogenic progestins such as cyproterone acetate (CA). CA is much cheaper and easier to administer than GnRHa and can later be combined with cross-sex hormones (17β-estradiol) (CA+E). To date, few data exist on the (side) effects of progestins for this indication.Objective and hypotheses: To report the effects of consecutive CA a...

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hrp0086p1-p373 | Gonads & DSD P1 | ESPE2016

Compound Heterozygous C10orf2 Mutations in a Japanese Patient with 46,XX Ovarian Failure and Deafness

Nagasaki Keisuke , Nyuzuki Hiromi , Sasaki Sunao , Sato Hidetoshi , Ogawa Yohei

Background: Perrault syndrome is a rare autosomal recessive disorder characterised by sensorineural hearing deafness in both sexes and primary ovarian failure in 46, XX karyotype females. HSD17B4, HARS2, LARS2, CLPP and C10orf2, which associated mitochondrial function, are reported as causative genes.Objective and hypotheses: Here we reported on a Japanese patient who identified C10orf2 mutation with the fourth patient in Perrault syndr...

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hrp0086p1-p374 | Gonads & DSD P1 | ESPE2016

GATA Transcription Factors in Testicular Adrenal Rest Tumours

Engels Manon , Span Paul , van Herwaarden Teun , Hulsbergen-van de Kaa Christina , Sweep Fred , Claahsen-van der Grinten Hedi

Background: Testicular Adrenal Rest Tumours (TARTs) are benign tumours that frequently occur in male patients with congenital adrenal hyperplasia. They exhibit both testicular and adrenal characteristics, but their aetiology is unknown. Additionally, TART resembles Leydig cell tumours (LCTs), while no marker exist to discriminate between these testis tumours. GATA transcription factors play an important role in eukaryotic development and are expressed in foetal and adult adren...

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hrp0086p1-p375 | Gonads & DSD P1 | ESPE2016

Can we Standardize Sex Assignment in 45,X/46,XY Mixed Gonadal Dysgenesis?

Colindres Johanna Viau , Eugster Erica , Smith O'Brian , Gunn Sheila , Mendiratta Meenal , Karaviti Lefkothea

Background: Patients with 45,X/46,XY mixed gonadal dysgenesis (MGD) have variable phenotypes leading to both male and female sex assignments. A multidisciplinary team should guide the process of sex assignment, however a standardized approach may provide objective guidance for the team as well as a tool for settings without such resources. One of the most important considerations for sex assignment is the hormonal production, which often determines the degree of virilization. ...

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hrp0086p1-p376 | Gonads & DSD P1 | ESPE2016

Intratubular Large Cell Hyalinizing Sertoli Cell Tumor of the Testis Presenting with Prepubertal Gynecomastia: A Case Report

Tuhan Hale , Abaci Ayhan , Sarsik Banu , Ozturk Tulay , Olguner Mustafa , Catli Gonul , Anik Ahmet , Olgun Nur , Bober Ece

Background: Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia (ITLCHSCN) resulting from Sertoli cells of the testis are mainly reported in young adults and these are rarely seen in childhood.Objective and hypotheses: In this case report, an eight-and-a-half-year old case presenting with complaint of bilateral gynecomastia since two years, showing no endocrine abnormality in laboratory during 2-years of follow-up, determined to have progression i...

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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 ...

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hrp0086p1-p378 | Gonads & DSD P1 | ESPE2016

Randomized Controlled Study Comparing Vitamin D and Omega 3-Fatty Acids Supplementation in Adolescents with Polycystic Ovary Syndrome

Bacopoulou Flora , Kolias Evangelia , Aravantinos Leon , Mantzou Aimilia , Doulgeraki Artemis , Spanoudi Filio , Deligeoroglou Efthimios , Charmandari Evangelia

Background: Polycystic ovary syndrome (PCOS) is a complex endocrine genetic disorder, which is associated with increased metabolic and cardiovascular morbidity. Vitamin D or omega-3 fatty acids supplementation may alleviate the metabolic and reproductive complications of PCOS.Objective and hypotheses: To compare clinical, psychometric, biochemical, endocrine, bone and sonographic markers in vitamin D sufficient adolescents with PCOS, pre- and post- 6 mon...

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hrp0086p1-p379 | Gonads & DSD P1 | ESPE2016

Health-Related Quality of Life and Psychological Wellbeing in Adults with Diverse Sex Development

Bennecke Elena , Thyen Ute , Gruters Annette , Lux Anke , Kohler Birgit

Background: Rare congenital conditions with incongruence of chromosomal, gonadal, and phenotypic sex have been summarized as disorders of sex development (DSD). Included in DSD are conditions with diverse genetic etiology, varying levels of prenatal androgen effects, phenotypes, and subsequently, different medical treatments. Quality of life (QoL) and psychological wellbeing are indicators of successful psychosocial adaptation to the conditions. Studies addressing these issues...

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hrp0086p1-p380 | Gonads & DSD P1 | ESPE2016

Association of Genetic Polymorphisms Around the LIN28B Gene and Idiopathic Central Precocious Puberty Risks Among Chinese Girls

Chen Ruimin , Hu Zhijian , Cai Chunyan

Background: Genome-wide association studies have identified rs314276, rs314263, rs7759938 and rs314280 in or near the LIN28B gene as associated with age at menarche. To date, the effect of polymorphisms in this gene on idiopathic central precocious puberty (ICPP) in Chinese girls have not been reported.Objective and hypotheses: The aim of this study was to evaluate the association of the four loci with ICCP in Chinese girls.Method:...

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hrp0086p1-p381 | Gonads & DSD P1 | ESPE2016

Psychological Outcomes and Quality of Life of Patients with Non-CAH DSD

Selveindran Nalini M , Jalaludin Muhammad Yazid , Zakaria Syed Zulkifli Syed , Rasat Rahmah

Background: Evidence based treatment of patients with Disorders of sex development (DSD) is challenged by a dearth of outcome studies.Objective and hypotheses: To study the quality of life and the psychological outcomes of children with DSD other than congenital adrenal hyperplasia (CAH) and to identify relevant risk factors.Method: Patients with DSD other than CAH aged between 6 and 18 years. Control subjects were matched for age ...

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hrp0086p1-p382 | Gonads & DSD P1 | ESPE2016

Normalization of Ovulation Rate in Adolescent Girls with Hyperinsulinemic Androgen Excess

Ibanez Lourdes , del Rio Luis , Diaz Marta , Sebastiani Giorgia , Lopez-Bermejo Abel , de Zegher Francis

Background: Oligo-ovulatory androgen excess in women (polycystic ovary syndrome (PCOS) by NIH definition) is a major cause of subfertility and relates to hepatic steatosis, independently of obesity.Objective: To test whether early treatment of PCOS affects subsequent ovulation rate.Method: Adolescent girls with hyperinsulinemic androgen excess a subgroup of PCOS (mean age 16 year; BMI 23.7 kg/m2) randomly r...

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ESPE Abstracts

55th Annual ESPE

Gonads &amp; DSD P1

BiosciAbstracts