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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Poster Presentations

Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2

hrp0089p2-p338 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Physical Assessment in Chinese Children with 5a-reductase Type 2 Deficiency

Zhao Xiu , Song Yanning , Chen Shaoke , Wang Xiumin , Luo Feihong , Yang Yu , Chen Linqi , Chen Ruimin , Chen Hui , Su Zhe , Wu Di , Gong Chunxiu

Background: 5α - reductase type 2 deficiency (5αRD) is an autosomal recessive hereditary disease which has an incidence of 11.2%–15.5% among population with 46, XY DSD (disorders of sex development).Objective: To study the growth pattern in Chinese pediatric patients with 5αRD.Subjects: Data were from 187 patients with 5αRD (age from 0–16 years old,with homozygous or compound heterozygous mutations in ...

hrp0089p2-p339 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Results of Exome Sequencing in Disorders of Sex Development

Kempers Marlies , Claahsen Hedi , Alfen Janielle van , Velden van der , Rinne Tuula

Disorders or Differences of sex development (DSD) are a heterogeneous group of congenital conditions, involving variations of chromosomal, gonadal, or anatomical development. Diagnosis is based on clinical, biochemical, imaging and genetic evaluation. In recent years knowledge about genetic causes has increased, mainly due to improved genetic techniques. In this study we investigated the yield of exome sequencing in our patients with DSD. Patients and methods: Genetic i...

hrp0089p2-p340 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Awareness is The Key: Heavy Delay in Diagnosis of 17-β-Hydroxysteroid-Dehydrogenase III Deficiency (17bHSD3D) and Other Insights and Conclusions from a Cohort of Ten 17bHSD3D Patients in Germany

Meinel Jakob , Grossmuller Nadine , Richter-Unruh Annette

Background/Objective: 17bHSD3D is a rare genetic disorder that leads to disorders of sex development (DSD) in 46,XY patients. Phenotype at birth ranges from unsuspicious female genitalia to micropenises. Besides molecular genetic testing no reliable lab parameters have been established for pre-identifying patients through basal steroid-levels or hCG-testing. This bares the risk of under-, mis- or late diagnosis. Further, little research has been performed on psychological well...

hrp0089p2-p341 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Evaluation of Three Patients with 46,XY Gonadal Dysgenesis due to Desert Hedgehog Gene Mutations

Poyrazoglu Sukran , Aghayev Agharza , Toksoy Guven , Karaman Birsen , Avci Sahin , Al Asli Derya Kardelen , Ozturan Esin Karakilic , Altunoglu Umut , Bas Firdevs , Basaran Seher , Uyguner Oya , Darendeliler Feyza

Background: Desert Hedgehog (DHH) gene acts on early testicu-lar development, testis cord formation and differentiation of fetal Leydig cells. It also has a role in nerve sheath formation. DHH gene mu-tations is a very rare cause of 46,XY gonadal dysgenesis (GD). Gonadal tumors and peripheral neuropathy have been associated with DHH mutations.Aim: To present three patients with 46,XY GD due to novel homozygous DHH muta...

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

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

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

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

hrp0089p2-p343 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Clinical, Biochemical, Structural and Functional Characterization of a Novel P450 Oxidoreductase Mutation Causing Virilization in a 46,XX Patient

Camats Nuria , Benito-Sanz Sara , Parween Shaheena , Lopez-Siguero Juan-Pedro , Fernandez-Cancio Monica , Fluck Christa E , Udhane Sameer S , Kagawa Norio , Audi Laura , Pandey Amit V

Background: Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a form of congenital adrenal hyperplasia (CAH) and results in steroid-production loss from cytochrome P450 proteins. Mutations in POR cause mild to severe forms of CAH with/without bone malformation symptoms resembling Antley-Bixler syndrome. We report a novel POR Arg550Trp mutation identified in a 46,XX patient with signs of aromatase (ARO) deficiency. Child (first pregnancy) and mother pr...

hrp0089p2-p344 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Copy-Number Variations of the Human Olfactory Receptor Gene Family in Patients with Macromastia and Prepubertal Gynecomastia

Baş Firdevs , Karaman Birsen , Al Aslı Derya Kardelen , Heidargholizadeh Somayyeh , Najaflı Adam , Toksoy Guven , Poyrazoğlu Şukran , Yıldız Melek , Uyguner Oya , Başaran Seher , Darendeliler Feyza

Background: Aromatase excess syndrome (AEXS) (OMIM 139300) is a rare condition characterized with gynecomastia in boys and macromastia in girls. Estrogen excess in boys can lead to prepubertal and pubertal gynecomastia, bone age progression and short adult stature. While most of girls are usually asymptomatic, there are few reported female patients with excessive breast growth, early puberty, menstrual irregularities, and short adult stature. Male and female children with AEXS...

hrp0089p2-p345 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Histopathologic Characterization of Patients with 46,XX Testicular and Ovotesticular Disorders of Sex Development

Touzon Maria Sol , Mutti Maria Laura Galluzzo , Ramirez Pablo , Garrido Natalia Perez , Marino Roxana , Bailez Marcela , Costanzo Mariana , Guercio Gabriela , Vaiani Elisa , Ciaccio Marta , Rivarola Marco Aurelio , Belgorosky Alicia , Berensztein Esperanza

Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to characterize the histology of 46,XX DSD prepubertal gonads. We studied 25 gonads of fourteen 46,XX DSD patients. The age of biopsy/gonadectomy was 1.17 (0.08–4.17) years (median and range). Molecular studies confirmed the absence of SRY by PCR and/or MLPA in blood samples of all patients and i...

hrp0089p2-p346 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Current Medical Care of Children and Adolescents with Disorders/differences of Sex Development in Switzerland

Sommer Grit , Konrad Daniel , Kuhlmann Beatrice , l'Allemand Dagmar , Phan-Hug Franziska , Hauschild Michael , Schwitzgebel Valerie , Tonella Paolo , Hess Melanie , Zumsteg Urs , Lauber-Biason Anna , Flueck Christa E.

Introduction: Since 2000 understanding of biology of sex development increased tremendously thanks to genetic research. This lead to new classification for persons with disorders/differences of sex development (DSD) based on genetics, and guidelines from the UK recommend revising medical care for persons with DSD by setting up interdisciplinary DSD teams. In Switzerland, persons with DSD asked for better care, stimulating the Swiss National Ethics Commission in 2012 to recomme...

hrp0089p2-p347 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Clinical, Laboratory and Molecular Genetic Findings of Patients with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

Poyrazoglu Sukran , Toksoy Guven , Aghayev Agharza , Karaman Birsen , Avci Sahin , Altunoglu Umut , Al Asli Derya Kardelen , Ozturan Esin Karakilic , Bas Firdevs , Basaran Seher , Uyguner Oya , Darendeliler Feyza

Background: 17β-Hydroxysteroid Dehydrogenase3 (17b-HSD3) deficiency is a rare autosomal recessive disorder, caused by a mutation of the HSD17B3 gene. The phenotypic spectrum ranges from normal-appearing female external genitalia to microphallus with hypospadias and variable degrees of genital ambiguity. 17b-HSD3 deficiency phenotype is variable, leading to misdiagnosis especially with partial androgen insensitivity syndrome and 5alfa reductase deficiency.<p c...

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

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

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

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

hrp0089p2-p349 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A 46,XX Female with WT1 Mutation, Congenital Nephrotic Syndrome and a Complex Disorder of Sex Development

Ciccone Sara , Bizzarri Carla , Picca Stefano , Orazi Cinzia , Lucchetti Chiara , Cappa Marco

Background: The Wilms tumor suppressor gene 1 (WT1) is essential for kidney and gonadal development. WT1 gene mutations are associated with two syndromes called Denys-Drash (DDS) and Frasier (FS) that clinically overlap and differ in the type of mutation and in the age at nephropathy onset. In 46,XY subjects WT1 mutations are associated with steroid-resistant nephrotic syndrome (NS), Wilms tumor, disorder of sex development (DSD) with dysgenetic gonads and gonadoblastoma risk....

hrp0089p2-p350 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Psychological Gender Features and Social Abilities and in Adolescent Girls – Influence of Obesity and Hyperandrogenism

Zachurzok Agnieszka , Pasztak-Opilka Agnieszka , Forys-Dworniczak Elzbieta , Drosdzol-Cop Agnieszka , Gawlik Aneta , Malecka-Tendera Ewa

Background: Both, obesity and hyperandrogenism are the conditions that can influence many different health domains, also may affect the mental and social wellbeing components of subject’s life.Study objective: To evaluate whether body weight status and clinical hyperandrogenism may influence social competencies and psychological gender features in adolescent girls.Design & participants: In 104 adolescent girls clinical eva...

hrp0089p2-p351 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Two Unrelated Cases of Severe Insulin Resistance Due to Insulin Receptor Mutation Discovered During Adolescence

Maryam Azgal , Natacha Bouhours-Nouet , Odile Camard , Ingrid Allix , Valentine Suteau , Justine Bailleul , Marie-Neige Campas , Regis Coutant

Introduction: Severe insulin resistance due to insulin receptor mutation is usually diagnosed at the neonatal period (Donohue and Rabson-Medenhall syndromes), or later in a type A insulin resistance syndrome. We report here two cases of insulin receptor mutation whose presenting signs were less noticeable.Observation: A 13-year-old girl was referred for short stature (Height −2.5 SDS) with SGA (birth length 44.5 cm, at gestational age 41 weeks). Cl...

hrp0089p2-p352 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A Systematic Review of Reported Outcomes for Hypospadias

Leunbach Tina Lund , O'Toole Stuart , Springer Alexander , Williamson Paula , Ahmed S Faisal

Introduction: The outcome of hypospadias is considered to be primarily dependent on the underlying aetiology, its surgical management and the duration of follow-up. However, currently, there is little consensus on what set of parameters are essential and clinically feasible for assessment of outcome.Aim: To facilitate the development of a core outcome set for hypospadias by assessment of the range of outcomes reported in boys undergoing surgery.<p cl...

hrp0089p2-p353 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Young Transgender People’s Attitudes to Fertility Preservation and Practice

Monti Elena , Walton-Betancourth Sandra , Wafa Raheala , Roberts Alice , Kleczewski Sara , Adu-Gyamfi Kirpal , Perkins Elaine , Williamson Elizabeth , Butler Gary

Background: GnRH analogue and subsequent oestradiol treatments are indicated to alleviate gender dysphoriain adolescent male to female young people (MtF; transgirls). Side effects include impairments in gonadal histology that may cause infertility or biological sterility. Current guidelines encourage professionals to address potential infertility risk and fertility preservation options with transgender youth and their families before starting these treatments.<p class="abs...

hrp0089p2-p354 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Etiology of Disorders of Sex Development in Kenyan Children and Adolescents

Amolo Prisca , laigong Paul , Omar Anjumanara , Drop Stenvert

Objective: The purpose of this study was to describe baseline data on etiological diagnosis of Disorders of Sex Development (DSD) in Kenyan children and adolescents.Methods: This retrospective study included 71 patients diagnosed with DSD who presented at ages 0–19 years from January 2008 to December 2015 at the Kenyatta National (KNH) and Gertrude’s Children’s (GCH) Hospitals.Results: Thirty-nine (54.9%) children ha...

hrp0089p2-p355 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Adiponectin as a Marker of Peripheral Insulin Resistance in Adolescents with Polycystic Ovarian Syndrome (PCOS) and as a Tool to Suspect Insulin Receptor Defects

Freire Analia , Gryngarten Mirta , Ballerini Maria Gabriela , Arcari Andrea , Bengolea Sonia Viviana , Scaglia Paula , Bergada Ignacio , Ropelato Maria Gabriela

Background: Decreased serum adiponectin levels are associated with obesity and peripheral insulin resistance (IR). PCOS is characterized by hyperandrogenism and chronic anovulation and frequently is associated to IR. Some defects of Insulin Receptor have been proposed as mechanisms to explain ovarian hyperandrogenism in PCOS.Objectives: To explore adiponectin levels in adolescents with PCOS and to evaluate if adiponectin would identify potential patients...

hrp0089p2-p356 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Diagnostic Experiences and Concerns in Adolescents with Polycystic Ovary Syndrome

Pena Alexia , Gibson-Helm Melanie , Byrne Stephanie , Cash Sarah , Hull Louise , Teede Helena

Many women with polycystic ovary syndrome (PCOS) have a delayed diagnosis after seeing multiple health care providers for their symptoms impacting on their physical and emotional well-being (1). In adolescent girls, PCOS diagnosis is even more controversial and challenging than in adult women yet there have been no studies in adolescents evaluating diagnostic experience, their knowledge and concerns. We aimed to evaluate diagnostic experience and concerns regarding PCOS in an ...

hrp0089p2-p357 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Impact of Hydrocortisone Treatment on Clitoral Size During First Year of Life in Girls with Congenital Adrenal Hyperplasia (CAH)

Svensson Johan , Halldin Stenlid Maria , Nordenskjold Agneta , Fossum Magdalena , Lajic Svetlana , Nordentstrom Anna

Objective: Early genital surgery has been the routine practice in virilized girls with severe forms of CAH for many years. During the last decade studies have shown genital surgery to have unsatisfactory effects on genital sensation and sexuality, and the current practice with early surgery has been questioned by patients and support groups as well as by clinicians and researchers. As surgery has been postponed in only few girls, published data on the effect of hydrocortisone ...

hrp0089p2-p358 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Persistent Mullerian Duct Syndrome: Rare But Important Aetiology of an Inguinal Hernia and Cryptorchidism in Boys

Bereket Abdullah , Bugrul Fuat , Kirkgoz Tarik , Karadeniz Cerit Kivilcim , Canmemis Arzu , Turan Serap , Picard Jean-Yves , Tugtepe Halil , Guran Tulay

Background: Anti-Mullerian hormone (AMH), secreted by immature Sertoli cells, provokes the regression of male fetal Mullerian ducts. Loss of function mutations in genes coding AMH (AMH) or its receptor (AMHRII) lead to the persistent Mullerian duct syndrome (PMDS) which is characterized by the presence of uterus, fallopian tubes, cervix and vagina in otherwise normally virilized 46,XY males. Typical clinical features along with plasma AMH levels and genotypin...

hrp0089p2-p359 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Clinical, Hormonal and Metabolic Profile in Adolescent Girls Treated with Gonadotropin Releasing Hormone Agonist for Idiopathic Central Precocious Puberty

Procopiuc Camelia , Dumitrescu Cristina , Vintila Madalina , Caragheorgheopol Andra , Brehar Andreea , Radomir Lidia , Gherlan Iuliana

Background: Gonadotropin-releasing hormone analog (GnRHa) is the gold standard treatment for central precocious puberty (CPP). In recent years, increased prevalence of polycystic ovary syndrome (PCOS) has been reported in girls treated with GnRHa for CPP. Attributes of PCOS overlap normal pubertal changes, making the diagnosis of PCOS during adolescence controversial.Aim: To assess the metabolic profile, the prevalence of PCOS and describe its phenotypes...

hrp0089p2-p360 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Spontaneous Pregnancies in Female Survivors of Childhood Hematological Malignancies Post Allogeneic Haemopoietic Stem Cell Transplantation

Lai-Ka Lee Samantha , Zacharin Margaret , Tiedemann Karin

Background: With improved treatment and survival of childhood hematological malignancies, the issue of fertility in survivors has become an important domain of holistic care. Haemopoietic stem cell transplant (HSCT) survivors were reported to have reduced fertility as compared to siblings, with 4/170 adult female allogeneic HSCT survivors achieving successful pregnancy.1 Of 532 female survivors, median age of 17.8 years at HSCT, who had TBI conditioning, 13 pregnanc...

hrp0089p2-p361 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Towards an Integrated Approach to Diagnosis of 46,XY Disorder of Sex Development

Kolesinska Zofia , Acierno James Jr , Faisal Ahmed S. , Kapczuk Karina , Skorczyk-Werner Anna , Mikos Hanna , Rojek Aleksandra , Krawczynski Maciej , Pitteloud Nelly , Niedziela Marek

Background and objective: Given phenotype variability as well as limited utility of conventional endocrine investigations in reaching the diagnosis in a 46,XY patient suspected of a disorder of sex development (DSD), there is an increasingly stronger argument for considering targeted genetic sequencing at an earlier stage of the evaluation process. This study focused on identifying the relationship between clinical examination, endocrine and radiological assessment, as well as...

hrp0089p2-p362 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Mini-Puberty in Boys with Inguinal Cryptorchidism

Raygorodskaya Nadezda , Bolotova Nina , Cherednikova Kseniya , Filina Nataliya , Nikolaeva Nataliya

Background: The period of 0–6 month of life is a short window for postnatal testicular maturation and the diagnostic of reproductive disorders.Objective: To evaluate the functional condition of the hypothalamo-pitutary-gonadal axis in 1–3 months boys with cryptorchidism.Method: 51 boys ages 1–3 months with cryptorchidism were examined: group 1–30 boys with unilateral inguinal retention testes and group 2–21...

hrp0089p2-p363 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

The Human Genital Tubercle is Steroidogenic Organ at Earlypregnancy

Savchuk Iuliia , Morvan Marie-Line , Philippe Antignac Jean , Gemzell-Danielsson Kristina , Le Bizec Bruno , Soder Olle , Svechnikov Konstantin

It is generally accepted that androgens produced by fetal Leydig cells (FLC) control proper masculinization of the male external genitalia. Here, we hypothesized that the human genital tubercle (GT) has potential to synthesize androgens independently of FLC at early pregnancy. We observed that human GT of both genders have capacity to synthesize steroids of the Δ4, Δ5 and alternative pathway of DHT synthesis including the androgen itself. The presence of steroids in ...

hrp0089p2-p364 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Transgender Medicine is a Significant Part of Paediatric Endocrinology

Decker Ralph , Jacobeit Jens

Background: Paediatric transgender individuals are reported, as adults, to be disproportionately affected by barriers to care, mental health problems, suicide, violence, discrimination, poverty, and HIV compared to the general population possibly due to stigma and discrimination (1). Knowing the denominator of people at risk is necessary for assessing the incidence of diseases, setting medical priorities and goals, and advocating for care programs (1).Ob...

hrp0089p2-p365 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Prospective Investigation of the Influence of Triptorelin Treatment on Body Weight and Body Mass Index of Girls Who Were Diagnosed with Idiopathic Precocious Puberty or Early Puberty

Kang Seokjin , Shim Yejee , Sik Kim Heung

Background: Gonadotropin-releasing hormone agonists (GnRHa) have been widely used to treat patients with central precocious puberty (CPP). Several studies have investigated changes in body composition in patients with CPP following GnRHa treatment. But the results are inconsistent. This study aimed to investigate the influence of GnRHa treatment on the weight and body mass index (BMI) of girls who were diagnosed with idiopathic CPP or early puberty (EP)....

hrp0089p2-p366 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Genetic Etiologies and Gender Outcomes of Patients with Disorders of Sex Development Presenting with Asymmetric Gonads

Oh Arum , Kim Yoon-Myung , Hun Seo Go , Kim Gu-Hwan , Choi Jin-Ho , Yoo Han-Wook

Purpose: Patients with mixed gonadal dysgenesis (MGD) and ovotesticular disorders of sex development (DSD) usually present with asymmetric gonads. Differential diagnosis of these conditions is based on karyotype and pathological findings of gonads. However, it is difficult to determine sex of rearing and to predict long-term outcomes. This study investigated the clinical features, karyotype, sex of rearing, and pubertal outcomes of patients with MGD and ovotesticular DSD.<...

hrp0089p2-p367 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A Rare Form of Ovotesticular DSD: Diagnostic and Management Challenges

Narayan Kruthika , Alderson Julie , Nicoll Nicky , Nicholls Guy , Smithson Sarah , Crowne Elizabeth

We report mosaic triploidy 69XXY/46XX in ovotesticular DSD which poses significant diagnostic and management questions.Case: A baby born to non-consanguineous parents after a normal pregnancy, presented with atypical genitalia including significant clitoromegaly, a urethral opening in the anterior perineum and a normal vaginal opening. Bilateral masses were noted in the labio-scrotal folds. Pelvic ultrasound identified a normal uterus however the gonads ...

hrp0089p2-p368 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A Case of Gonadal Dysgenesis Due to a Novel Homozygous Mutation in NR5A2 Gene

Denzer Friederike , Denzer Christian , Hornig Nadine , Holterhus Paul-Martin , Hiort Olaf , Wabitsch Martin

Background: Steroidogenic factor (SF1, NR5A2) regulates multiple genes known to be involved in gonadal development, adrenal development, steroidogenesis, and gonadotroph development. Heterozygous mutations in the NR5A1 gene have been described in association with mild to severe gonadal dysgenesis with or without adrenal failure. Homozygous mutations are rare and have also been described in association with gonadal dysgenesis with or without adrenal failure.<p class="abstex...

hrp0089p2-p369 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Assessment of Initial Investigation Requested in Adolescents with Menstrual Disorders

Charamanta Maria , Michala Lina , Drakakis Peter , Yasmin Ephia , Creighton Sarah

Backround: Menstrual disorders are common among the adolescent girls. We examined the initial investigations performed in adolescents, presenting with frequent, heavy or painful periods. Although, usually abnormal uterine bleeding (AUB) in adolescent women is attributable to immaturity of the hypothalamic-pituitary-ovarian axis, underlying conditions such as coagulation disorders and anemia should always kept in mind. However, neither the laboratory nor the ultrasound investig...

hrp0089p2-p370 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Persistent Müllerian Duct Syndrome in Twin Brothers Caused by a Novel Mutation in the AMHR2 Gene

Maele Karolien Van De , Rademaeker Marjan de , Gies Inge , Vanbesien Jesse , Klink Daniel , Boe Veerle De , Schepper Jean De

Background: Persistent Müllerian Duct Syndrome (PMDS) needs to be considered in boys (46, XY) presenting with bilateral cryptorchidism or unilateral cryptorchidism associated with an inguinal hernia. Anti-Müllerian hormone (AMH) gene as well as Anti-Müllerian hormone Receptor (AMHR 2) gene mutations have been identified in PMDS boys.Aim and methods: To report a novel mutation in the AMHR 2 gene in monochorionic d...

hrp0089p2-p371 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

No Difference in Cognitive Performance or Gender Role Behaviour in Men with and without Hypospadias

Strandqvist Anna , Ortqvist Lisa , Frisen Louise , Nordenskjold Agneta , Herlitz Agneta , Nordenstrom Anna

Background: Hypospadias is a common malformation of male external genitalia, resulting in urethral displacement with different severity. Male genital development occurs during fetal development when also the brain is developing rapidly. Genital development is dependent on androgen effect, and androgens also have impact on gender development. We here explore whether hypospadias are associated with variation in other aspects of sex typical development.<p c...

hrp0089p2-p372 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Assessment of the Gonadotrophin–Gonadal Axis and Sertoli Cell Function in Partial Androgen Insensitivity Syndrome

Khater Doaa , Omar Magdy , Raafat Shaymaa

Androgen insensitivity syndrome (AIS) is the largest single entity that leads to male under-masculinization. Although adequate serum concentrations of testosterone exclude a defect in testosterone biosynthesis, a low testosterone value at baseline does not always exclude PAIS. Anti-Müllerian hormone (AMH), also called Müllerian inhibiting substance or factor, is secreted in high amounts by the immature Sertoli cell; it is negatively regulated by testosterone.<p c...

hrp0089p2-p373 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Prevalence and Ethiologic Factors of Hirsutism in Adolescents

Kaplan Nılgun , Orbak Zerrin , Doneray Hakan

Aim: To investigate the prevalence of hirsutism among adolescents using the modified Ferriman-Gallway (FG) Scale and to determine etiological factors in childen with hirsutism.Materials and methods: The study was in 2380 female adolescents aged 12–18 years. The modified FG score was used in the diagnosis and monitoring of hirsutism. Scores of 8 or above were regarded as hirsutism. Two hundred thirty-three volunteers determined as having hirsutism we...

hrp0089p2-p374 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Evaluation of Serum Anti-Mullerian Hormone and Androstenedione Levels in Adolescents Girls with Menstrual Irregularities

Ersoy Betul , Hanedan Nurcan , Hanedan Candost , Taneli Fatma

Aim: Oligo- or amenorrhea is one of the most important features of polycystic ovary syndrome (PCOS). Anti-Mullerien Hormone (AMH) plays an inhibitory role in follicular development and contributes to hyperandrogenism in PCOS. Our aim was to assess differences in serum AMH and androstenedione levels, and clinical characteristics between adolescent girls with and without oligomenorrhea.Participants and methods: Sixty-eight adolescent girls with oligomenorr...

hrp0089p2-p375 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Could Basal AMH Replace hCG Stimulation Test in XY Disorder of Sex Development Cases

Elsayed Shaymaa Raafat , Abdo Magdy Omar , Badawy Haytham Elmetwaly , Abbassy Hadeer Aly , Yaseen Duaa Khatter

Background: Traditionally, the standard endocrinological evaluation of 46, XY DSD cases is based upon measurement of testosterone, dihydrotestosterone and androstenedione and their ratios either in mini-puberty or under human chorionic gonadotropin (hCG) stimulation. However, this method is of limited value in reaching definite diagnosis in many cases. More recently, there is a growing appreciation of the value of assessing Sertoli cell function because the most active compart...