ESPE Abstracts

ESPE Abstracts

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58th Annual ESPE (ESPE 2019)

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Poster Category 2

Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

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hrp0092p2-244 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

The Evolving Role of Whole Exome Sequencing in the Diagnosis of Disorders of Sex Development (DSD)

Tenenbaum-Rakover Yardena , Admoni Osnat , Elias-Assad Ghadir , London Shira , Noufi- Barhoum Marie , Ludar Hana , Almagor Tal , Bertalan Rita , Bashamboo Anu , McElreavey Ken

Background: Disorders of sex development (DSD) are classified as a congenital discrepancy between external genitalia, and gonadal and chromosomal sex. Despite extensive laboratory and imaging investigations, the etiology of DSD is unknown in more than 50% of patients. We aimed to evaluate the etiology of DSD using whole exome sequencing (WES) technique.Methods: Eleven patients with DSD (ten with 46,XY and one with 46...
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hrp0092p2-245 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Etiological Structure Disorders of Sex Development 46,XY By One Center

Sannikova Ekate , Samsonova Lubov , Latyshev Oleg , Kiseleva Elena , Okminyan Goar , Kasatkina Elvira , Dondup Olga , Okulov Alexey , Tulpakov Anatoliy

Objective: To study structure disorders of sex development (DSD) 46,XY by one center.Subjects and Methods: It was included 60 patients with diagnosis DSD 46,XY at birth to 18 years. For all patients was conducted structural evaluation of the external (by External Masculinization Score, EMS, 0-12) and internal genitalia (by pelvic ultrasound, n=60, laparoscopy, n=20), hormonal research (testoster...
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hrp0092p2-246 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Comparison of Growth Status, Level of Blood Glucose and Lipid Metabolism in SGA and AGA Girls with Central Precocious Puberty

Yang Xi , Yu Xiao , Zhao Yue , Luo Xiaoping , Liang Yan , Wu Wei , Ying Yanqin , Hou Ling

Background: Several studies have shown that born small for gestational age (SGA) children have earlier precocious puberty, progress faster, and are less likely to gain target height in adults than children born appropriate for gestational age (AGA). Moreover, SGA children are more prone to metabolic disorders - obesity, diabetes and cardiovascular disease.Objective: To compare the physical development status, serum lipid...
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hrp0092p2-247 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Does the Anogenital Distance Predict Outcome of Hypospadias Repair?

Springer Alexander , Riedl Stefan , Tonnhofer Ursula , Hiess Manuela , Metzelder Martin , Hebenstreit Doris

Purpose: The anogenital distance (AGD) is androgen action dependent. It is sexually dimorphic and seems to be shorter in androgen-action related diseases like hypospadias. In this study we sought to determine whether the AGD is predictive for surgical outcome in hypospadias repair.Material and Methods: Patients were collected prospectively. AGD was measured in OR prior to surgery by 2 surgeons (blinded, each 3 times). Ou...
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hrp0092p2-248 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

GnRH Analogues Use in Post-Pubertal Adolescents with Gender Dysphoria Causes a Reduction in Bone Density Values

Tseretopoulou Xanthippi , Amin Nadia , Alvi Sabah , Mushtaq Talat

Abstract Withdrawn...
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hrp0092p2-249 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

11-Oxygenated Androgens May be Related to the Virilization of Female External Genitalia Due to the Maternal Androgen-Producing Adrenal Tumor

Nagasaki Keisuke , Takase Kaoru , Tani Tomoyuki , Nyuzuki Hiromi , Ogawa Yohei , Numakura Chikahiko , Honma Keiko , Hasegawa Tomonobu

Background: Fetal-derived androgen excess, such as 21-hydroxylase deficiency (21-OHD), is a major cause of 46,XX disorders of sex development (DSD), but there are rarely is due to maternal androgen excess such as that caused by adrenal tumors or luteoma.Recently, in addition to the classical androgen synthesis pathway, the alternative androgen synthesis by backdoor pathway and 11-oxygenated steroids has been reported for virilization of female patients with 21...
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hrp0092p2-250 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

High Prevalence GnRH Receptor Mutations in Russian Patients with Idiopathic Hypogonadotropic Hypogonadism

Frolova Elena , Makretskaya Nina , Kalinchenko Natalya , Kolodkina Anna , Zubkova Natalya , Petrov Vasiliy , Vasilyev Evgeniy , Tiulpakov Anatoly

Background: GNRHR gene mutations are responsible for development to normosmic idiopathic hypogonadotropic hypogonadism (iHH) and known to be the most frequent cause of this condition. Nevertherless, the reported frequency of GNRHR mutations in iHH patients estimated to be as low as 3-6%.Objective: To evaluate the frequency of GNRHR gene defects in a heterogeneous group of Russian patients with iHH and described the p...
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hrp0092p2-251 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

3β-HSD2 Deficiency Due to Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and a Frameshift Deletion (p.Lys273ArgFs*7) in an Under-Virilized Infant Male with Salt Wasting

Leka-Emiri Sofia , Taibi Ludmia , Fotinou Aspasia , Vlachopapadopoulou Elpis , Michalacos Stefanos , de Roux Nicolas

Objectives: To describe clinical, hormonal and genetic findings of an under-virilized infant male, 13 month old, of afghani origin, presented at the emergency department with salt-wasting adrenal crisis.Case report: The patient, a 13 month old male infant, presented at the emergency department with complaints of vomiting and fever. Physical examination was significant for severe dehydration along with perineal hypospadia...
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hrp0092p2-252 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Clinical Evaluation of Newly Developed Scoring System for DSD (DSD-SS): Association of DSD-SS With Assigned Gender in 45,X/46,XY Mosaicism

Kawai Masanobu , Nagamatsu Fusa , Shoji Yasuko , Matsumoto Fumi , Sato Hiroyuki , Hasegawa Yukihiro , Ida Shinobu

Background: We have proposed a simple and comprehensive scoring system to evaluate clinical features of differences/disorders of sexual development (DSD); however, its clinical evaluation has not been performed.Aim: To evaluate the association between this newly proposed DSD scoring system (DSD-SS) and assigned gender in patients with 45,X/46,XY mosaicism.Methods: DSD-SS involves e...
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hrp0092p2-253 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Complexities of Diagnosis in 17-Beta-Hydroxysteroid Dehydrogenase Deficiency and Implementation of Next Generation Sequencing in Guiding Management Decisions – Case Series of Six Patients

Taylor-Miller Tashunka , Barton John S , Burren Christine P , Woodward Mark , Alderson Julie , Crowne Elizabeth C

17-beta-hydroxysteroid dehydrogenase (17-beta-HSD3) deficiency is an autosomal recessive 46XY disorder of sex development (DSD), which results in impaired gonadal androstenedione conversion to testosterone. The phenotype ranges from female to ambiguous genitalia, with wolffian-duct structures and testes. HCG stimulation tests assess testosterone biosynthesis, though biochemical results in confirmed 17-beta-HSD3 deficiency may overlap with gonadal dysgenesis making diagnosis ch...
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hrp0092p2-254 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Paediatric Health Assistance to Transsexual Minor in the Multidisciplinary Care Unit of the Basque Country (Spain)

Rica Itxaso , Grau Gema , Vela Amaia , Rodríguez Amaia , Guadilla M. Luisa

In 2009, the National Health Service of the Basque Country created a Gender Identity Reference Unit (GIU-BC) to cover the health needs of the transsexual population with a multidisciplinary assessment: Psychiatry, psychology, endocrinology, plastic and reconstructive surgery. Pediatric endocrinologists and pediatric psychiatry were included in 2013.Aim: To know the activity of Pediatric Endocrinology in the GIU-BC since 2013.<p class...
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hrp0092p2-255 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

A Rare Cause of 46, XX ovotesticular DSD: Tetragametic Gonadal Chimerism

Uçar Ahmet , Güran Tülay , Eren Funda , Dokucu Ali Ihsan , Sahin Süleyman , Tanik Canan

Introduction: Virilization and hirsutism are clinical findings of androjen excess in females mostly due to polycystic ovary syndrome, although androgenic drugs, nonclassic congenital adrenal hyperplasia and androgen secreting adrenal/ovarian lesions are also implicated. 46, XX ovotesticular disorder of sex development (DSD) is the rarest form of DSD with an incidence of less than 1 in 20000.Case report: A 15-year-old ado...
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hrp0092p2-256 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

A Clinical and Cytogenetic Study of Patients with Disorders of Sex Development (DSDs) Associated with Congenital Anomalies or Recognizable Syndromes

Mazen Inas , Mekkawi Mona , Kamel Alaa , Waly Sherif , Atef Abeer , Torky Ahmed , El Gammal Mona

Disorders of sex development (DSDs)represent a diverse group of clinical conditions which have a very wide phenotypic spectrum associated with a complicated molecular background.Such conditions are considered among the most common birth defects andare frequently associated with congenital abnormalities.Herein we present 62 patients with DSD associated with somatic anomalies. Patients were selected from clinical genetics dept., NRC. They underwent complet...
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hrp0092p2-257 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Physical Changes, Laboratory Parameters and Bone Mineral Density During Testosterone Treatment in Adolescents with Gender Dysphoria

Stoffers Iris , de Vries Martine , Hannema Sabine

Introduction: Although many adolescents with gender dysphoria (GD) are being treated with GnRH analogues (GnRHa) and gender affirming hormones there is a paucity of data on the effects and side effects of this treatment in this population. We aimed to study short-term outcome of testosterone treatment in male adolescents with GD.Methods: Sixty-two adolescents who had been treated with GnRHa, and subsequently with testost...
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hrp0092p2-258 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Study of Autistic Features Among Children and Adolescents with Congenital Adrenal Hyperplasia

Elsayed Shaymaa , Omar Tarek , El Bardeny Magdy , El-Latif Soha Abd , Ibrahim Sandra

Introduction: Autism spectrum disorder (ASD) consists of a pattern of persistent deficits in social communication and interaction across multiple contexts together with restricted, repetitive patterns of behavior, interests or activities. In the general population autistic traits can be found more frequently in males than females. This male predominance indicates that high androgen levels may prenatally have influence on development of autistic traits.<p c...
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hrp0092p2-259 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Differences of Sex Development with Chromosomal Mosaicism: Histological Characterization and Immunohistochemistry Markers in Gonads During Childhood

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

Sex chromosome disorders, including sex chromosome mosaicism, result in a large clinical spectrum. There is scarce information about the histological pattern of these gonads.Aim: to characterize the histology and cell markers pattern in gonads of patients with chromosomal mosaicism.Gonadal biopsies from thirteen patients with chromosomal mosaicism, including chromosome Y were studied. Six were rearing as male and s...
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hrp0092p2-260 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Heterozygous CYP11A1 Mutation Associated with 46XY Disorder of Sexual Differentiation and Mild Adrenal Insufficiency

Bowen Philippa , Nicoll Nicky , Giri Dinesh

Background: CYP11A1 encodes the P450 side chain cleavage (scc) enzyme. This protein localises to the mitochondrial inner membrane and catalyses the conversion of cholesterol to pregnenolone which is the first and rate-limiting step in the synthesis of all steroid hormones. P450scc deficiency is a rare disorder that can present as adrenal insufficiency and varying degrees of disorder in sex development (DSD) in 46XY individuals. Typically, this disorde...
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hrp0092p2-261 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

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hrp0092p2-262 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Etiologic Classification of 46, XX Disorders of Sexual Differentiation According to Chicago Consensus: Single Center Results

Guven Ayla

Objective: The aim of the study was to describe the etiologic diagnosis, clinical characteristics in children with 46,XX disorder of sexual development (DSD).Methods: The 86 46, XY patients were included the retrospective study. The definitive diagnosis was made by presentations and clinical findings, gonadal morphology and genital anatomy of patients, basal and stimulated hormone results, imaging methods, molecular gene...
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hrp0092p2-263 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Novel Genotype in Two Siblings with 5-Alpha-Reductase 2 Deficiency:Different Clinical Course Due to the Time of Diagnosis

Kocova Mirjana , Plaseska-Karanfilska Dijana , Noveski Predrag , Kuzmanovska Maja

Background: Steroid 5-Alpha-Reductase-2 deficiency(5-ARD) is a result of mutations in the SRD5A2 gene. It causes disorder of sexual differentiation(DSD) in 46XY individuals with a variable genital phenotype. We present two siblings with a female external genitalia at birth and bilateral inguinal testes, raised as females. These are the first molecularly sharacterized patients from the Republic of Macedonia with a different clinical course due to the time of th...
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hrp0092p2-264 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Ethical and Familial Dilemmas of Genitoplasty Encountered in Congenital Adrenal Hyperplasia

Dirlewanger Mirjam , Birraux Jacques , Edan Anne , Klee Philippe , Phan-Hug Franziska , Schwitzgebel Valérie M.

Differences of sex development (DSD) occur in about 1 in 3000 newborns in Switzerland. The indication and timing of genitoplasty in children with DSDs is a complex issue. In 2012 the Swiss National Advisory Commission on Biomedical Ethics published its position against early irreversible interventions in order to "normalize" the aspect of the external genitalia.We report the case of a child with a 46,XX DSD due to a classical form of congenital a...
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hrp0092p2-265 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Hormonal Assessment of Malformation Syndromes Associated with Disorders of Sex Development: Case Series of 9 Patients

Mahfouz Shaymaa , Abdelmeguid Yasmine

Introduction: Disorder of sex development (DSD) is a challenging condition confronting the patients, their relatives and the clinicians. It is more challenging when this disorder is associated with other extra-genital malformations. This makes their overall management more complex than if they just had DSD. Moreover, some of them have disturbed testicular function.Aim of the work: this work aimed at clinical review of 9 ...
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hrp0092p2-266 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Family Perrault Syndrome in Two Tunisian Sisters

Safi wajdi , Hadj Kacem Faten , Gargouri Imene , Zargni Asma , Rekik Nabila , Charfi Nadia , Masmoudi Saber , Mnif Feki Mouna , Hadj Kacem Hassen , Abid Mohamed

Introduction: Perrault syndrome (PS) is a rare disease characterized by a premature ovarian failure (with primary or secondary amenorrhea) and a sensorineural deafness. In this context we report the case of two sisters issuing from consanguineous parents presenting the association of these two anomalies.Cases: The reason for consultation was primary amenorrhea in both cases at age 16 and 21 years respectively, on examina...
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hrp0092p2-267 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

An Intriguing Co-Occurrence of MURCS and VACTERL Association: A Case Report and Review of the Literature

Averbuch Noa Shefer , Shvalb Naama Fisch , Nimri Revital , Phillip Moshe , Orenstein Naama

Background: MURCS association is a rare developmental disorder that primarily affects the reproductive and urinary systems. MURCS is an acronym which stands for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities. Males and females with MURCS association often have short stature and might suffer from hearing loss. MURCS anomalies are present at birth but may not be noticed until puberty, and then present as primary amenorrhea, or discovered incident...
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hrp0092p2-268 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

The Effect of Vitamin D Supplementation on Androgen Levels of Adolescent Girls with Hyperandrogenism

Çig Esranur , Atar Müge , Pirgon Özgür

Aim: The aim of this study was to evaluate the effect of different doses of vitamin D supplementation on androgen levels in adolescent girls who were treated with metformin.Method: 45 adolescent girls diagnosed with hyperandrogenism were divided into the 3 different groups according to the treatment scheme. Patients treated with metformin (850 mg / day oral)(n = 15), metformin and vitamin D drops (2,000 IU / day)(<em...
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hrp0092p2-269 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Pseudo-Precocious Puberty in Children Triggered by Incidental Transdermal Contamination with Topical Sex Steroids Through Parents

Yakovenko Vira , Choukair Daniela , Duffert Christin , Mittnacht Jana , Klose Daniela , Bettendorf Markus

Introduction: Pseudo-precocious puberty may be triggered by either endogenous or exogenous sex steroids. Accidental ingestion of contraceptives, anabolic steroids or life style products containing sex steroids as well as transdermal transmission of topical sex steroids may cause early onset of secondary sexual development.Objective: To report the clinical course of incidental contamination with topical sex steroids in ch...
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hrp0092p2-270 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Follow-up of Individuals with Gender Identity Disorders: A Long and Challenging Process

Ozturan Esin Karakilic , Ozturk Ayse Pinar , Kardelen Al Asli Derya , Poyrazoglu Sukran , Bas Firdevs , Ayaz Ayse Burcu , Yuksel Sahika , Darendeliler Feyza

Background/Aim: Gender identity disorder (GID) is a condition, which is characterized by incongruence between experienced gender and the natal-sex, which also causes deterioration of functionality. After psychiatric evaluations, medical treatment for adolescents with GID consists of 3 phases. First phase is the suppression of puberty with GnRH-analogues, which may be considered to be supporting the diagnostic process. In the second phase, cross-sex steroid hor...
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hrp0092p2-271 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Follow-Up of Two Similar Patients with Steroidogenic Factor-1 (SF-1/ NR5A1) Variants, in Two Different Eras

Gaisl Odile , Aeppli Tim , Sproll Patrick , Lang-Muritano Mariarosaria , Nef Serge , Konrad Daniel , Biason-Lauber Anna

Abstract: Steroidogenic factor 1 (SF1)/"nuclear receptor subfamily 5 group A member 1" (NR5A1) is involved in adrenal and gonadal development, steroidogenesis and reproduction. The first patient, published in 1999 presented with a 46,XY difference of sex development (DSD) and adrenal insufficiency. The following year the first female patient with only adrenal insufficiency was described. Since then, heterozygous changes in SF-1/NR5A1 causing 46,XY DSD ...
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hrp0092p2-272 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Genetic Testing of DSD Patients in Ukraine

Shcherbak Yuliya , Zelinska Nataliya , Schevchenko Iryna , Globa Evgeniya , Bashamboo Anu , McElreavey Kenneth

Background: In this study we investigated the genetic aetiology of a series patients with DSD seen in Ukraine.Materials and Methods: The Ukraine Pediatric DSD Register has 95 children with DSD between the ages of 0-18 y.o. in 2018 (a prevalence of 1 in 80097). The criterion for including patients to the database was ambiguous genitalia and/or a discrepancy between the chromosomal and gonadal/genital sex. All patients had...
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hrp0092p2-273 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Spectrum of Genital Abnormalities in Robinow Syndrome: Case Series

Mahfouz shaymaa , Marzouk Eman

Introduction: Robinow syndrome is a rare genetic disorder characterized by mesomelic dwarfism, characteristic facial features, skeletal abnormalities and external genital abnormalities. Genital abnormalities may be noted in these patients and may cause confusion in gender assignment. In males, the characteristic pattern is micropenis with or without cryptorchidism, webbed penis or hypoplastic scrotum. In females, the anatomical defect is not always evident.The...
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hrp0092p2-274 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

MAMLD 1 Gene Mutation and 46 XY Sex Development Disorder: A Case Report

Bousyf Bouchra , Ezzerrouqi Amine , Lazreg Youssef , Latrech Hanane

Introduction: 46 XY sex development disorders are a group of rare congenital conditions in which chromosomal, gonadal or anatomic sex is atypical. Less than 20% of cases have a precise genetic diagnosis.We report here the case of a patient suffering from a 46 XY sexual development disorder secondary to the MAMLD 1 gene mutation.Observation: The patient is a nine month infant who was admitted fo...
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hrp0092p2-275 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

46,XY Complete Gonadal Dysgenesis in a Familial Case with a Rare Mutation in the Desert Hedgehog (DHH) Gene

Neocleous Vassos , Fanis Pavlos , Cinarli Feride , Oulas Anastasios , Spyrou George M , Phylactou Leonidas A , Skordis Nicos

Purpose: Disorders of sex development (DSD) have been linked with gene defects that lead to gonadal dysgenesis. Herein, we aimed at identifying the genetic cause of gonadal dysgenesis in a patient with primary amenorrhoea and 46,XY karyotype from a consanguineous family.Methods and Results: Whole exome sequencing (WES) was performed and revealed in homozygosity the rare and only once reported p.Arg164Pro missense mutatio...
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