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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Gonads & DSD P2

hrp0086p2-p383 | Gonads & DSD P2 | ESPE2016

Thyroid Autoimmunity in Adolescent Girls with Polycystic Ovary Syndrome – Pilot Study

Zachurzok Agnieszka , Skrzynska Karolina , Gawlik Aneta , Malecka-Tendera Ewa

Relationship between polycystic ovary syndrome (PCOS) and thyroid autoimmunity has been recently suggested by several authors. Autoimmune thyroiditis (AIT) is the most prevalent autoimmune disease and link between AIT and PCOS has been reported in adult women. There is a hypothesis that functional autoantibodies could contribute to the development of PCOS. The aim of the study was to evaluate the prevalence of thyroid autoimmunity in adolescent girls with PCOS. Forty five adol...

hrp0086p2-p384 | Gonads & DSD P2 | ESPE2016

The Efficacy and Safety of Gonadotropin-Releasing Hormone Analogue Treatment to Suppress Puberty in Gender Dysphoric Adolescents

Hannema Sabine , Schagen Sebastian

Background: Puberty suppression using gonadotropin releasing hormone analogues (GnRHa) is recommended by current guidelines. Although GnRHa have long been used to treat children with precocious puberty there are few data on the outcome of this treatment in gender dysphoric adolescents.Objective and hypotheses: We aimed to evaluate the efficacy and safety of triptorelin to suppress puberty in a cohort of gender dysphoric adolescents.<p class="abstext"...

hrp0086p2-p385 | Gonads &amp; DSD P2 | ESPE2016

A Familial form of DSD due to NR5A1 Mutation in a Father and His Son

Gay Claire-Lise , Gorduza Daniela , Brac de la Perriere Aude , Plotton Ingrid , Mouriquand Pierre , Nicolino Marc , Morel Yves

Background: NR5A1 mutations in 46,XY patients lead to various degrees of disorders of sex development (DSD). Familial cases have been described where the mother (heterozygous for the mutation) presented primary ovarian failure. Little is known about testicular function at puberty but most patients have biological markers of gonadal dysgenesis, raising fears of infertility.Objective and hypotheses: To describe a familial form of DSD due to NR5A1 mutation ...

hrp0086p2-p386 | Gonads &amp; DSD P2 | ESPE2016

High Prevalence of SGA in Patients with Disorders of Sexual Development, Especially Idiopathic 46,XY DSD

Ladjouze Asmahane , Taleb Ourida , Kedji Lila , Maoudj Abdeljalil , Berkouk Karima , Bensmina Manoubia , Aboura Rawda , Ouarezki Yasmine , Philibert Pascal , Anane Tahar , Sultan Charles , Laraba Abdenour

Background: Disorders of sex development (DSD) are a group of rare conditions characterized by variable discordance between chromosomal, gonadal and phenotypic sex. An association between smallness-for-gestational age (SGA) and DSD is already recognised, but few studies have investigated this in detail.Aim of study: To evaluate the prevalence of SGA, among patients with DSD and to establish a correlation with the different types and causes of DSD.<p ...

hrp0086p2-p387 | Gonads &amp; DSD P2 | ESPE2016

Questionnaire Surveys Targeting Japanese Pediatric Endocrinologists Regarding Reproduction in Pediatric and Adolescent Cancer Patients

Miyoshi Yoko , Yorifuji Tohru , Horikawa Reiko , Takahashi Ikuko , Nagasaki Keisuke , Ishiguro Hiroyuki , Fujiwara Ikuma , Ito Junko , Yokoya Susumu , Ogata Tsutomu , Ozono Keiichi

Background: While existing guidelines recommend long-term follow-up of childhood cancer survivors (CCS), their fertility has not been clarified in Japan.Objective and hypotheses: To address this issue, we organized a working panel to compile evidence from CCSs. The team consisted of various medical specialists in foundation hospitals.Method: We had conducted the questionnaire surveys targeting pediatric endocrinologists regarding r...

hrp0086p2-p388 | Gonads &amp; DSD P2 | ESPE2016

Fertility Outcomes after Childhood Onset Hypothalamic Hypogonadism

Zacharin Margaret

Background: Childhood onset (CO) hypogonadotrophic hypogonadism (HH), congenital or acquired after midline tumours and their treatment, is reported to have significantly poorer outcomes, in terms of adult spermatogenesis induction and duration of treatment to conception, compared with HH of post pubertal onset. A mixed cohort (youngest aged 26 years) reported median time to conception of 28 months.1 Use of hCG and FSH in adolescence is reported to result in spermato...

hrp0086p2-p389 | Gonads &amp; DSD P2 | ESPE2016

Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel AMH Receptor Mutation

Korkmaz Ozlem , Ozen Samim , Ozcan Nurhan , Bayindir Petek , Sen Sait , Onay Huseyin , Goksen Damla , Avanoglu Ali , Ozkinay Ferda , Darcan Sukran

Background: Persistent Mullerian duct syndrome is the result of either anti-Mullerian hormone (AMH) deficiency or AMH receptor resistance. While the external genital structure is that of a normal virilized male, fallopian tubes and a uterus are observed in the internal genital structure. We present a case referred to our clinic because of female internal genital structure at laparoscopy during a surgical procedure performed due to undescended testes.Obje...

hrp0086p2-p390 | Gonads &amp; DSD P2 | ESPE2016

Three Cases of NR5A1 (SF1) Gene Mutations in DSD Patients

Raygorodskaya Nadezda , Bolotova Nina , Kolodkina Anna , Dronova Elena

Background: NR5A1 mutations in DSD patients result in a wide range of clinical manifestations.Objective and hypotheses: To evaluate the clinical variability of ambiguous phenotypes and the gender assignment in DSD patients with SF1 mutations.Method: Clinical examination, hormonal tests, ultrasound, laparoscopy and molecular analyses, including direct and parallel sequencingResults: Case 1. A girl, aged 18 mon...

hrp0086p2-p391 | Gonads &amp; DSD P2 | ESPE2016

Sertoli-Leydig Cell Tumor as a Rare Cause of Hirsutism in a Young Adolescent

van der Straaten Saskia , Merckx Mireille , Van Dorpe Jo , Goethals Inge , Bordon Victoria , Timmers Philippe , De Schepper Jean

Background: Sertoli-Leydig Cell Tumors (SLCT) account only for 1% of all ovarian neoplasia, occur more commonly in the second or third decade of life and seldom secrete tumor markers. The experience in adolescence is limited.Objective and hypothesis: To report the hormonal and biological profile of a SCLT in a young adolescent. Ovarian tumor markers as well as FDG-PET scanning might be helpful in diagnosing ovarian malignancy in case of normal ultrasound...

hrp0086p2-p392 | Gonads &amp; DSD P2 | ESPE2016

Identification of an AR Mutation in Klinefelter’s Syndrome during Evaluation for Penoscrotal Hypospadias

Acar Sezer , Tuhan Hale , Bora Elcin , Demir Korcan , Onay Huseyin , Ercal Derya , Bober Ece , Abaci Ayhan

Background: Klinefelter’s syndrome (KS) is the most prevalent chromosomal abnormality and clinically characterized by oligo-azoospermia, hypergonadotropic hypogonadism, gynecomastia and infertility in adults. Genital malformations in KS have rarely been reported.Objective and hypotheses: To investigate the etiology of penoscrotal hypospadias in a 14-month-old boy.Method: The patient was born from a healthy 23-year-old mother a...

hrp0086p2-p393 | Gonads &amp; DSD P2 | ESPE2016

Assessment of Sexual Identity in Patients with Congenital Adrenal Hyperplasia

Razzaghy-Azar Maryam , Karimi Sakineh , Shirazi Elham

Background: Congenital adrenal hyperplasia (CAH) is caused by different enzyme deficiency in the pathway of corticosteroid synthesis resulted in disorder of sex development (DSD) and may affect sexual identity in patients.Objective and hypotheses: To assess gender identity in patients with CAH.Method: In this study, 51 patients with CAH [21 children (5–14 years) and 30 adolescents and adults (15–37 years) were assessed us...

hrp0086p2-p394 | Gonads &amp; DSD P2 | ESPE2016

Duct Ectasia, a Rare Complication of Gynaecomastia

Fuentes-Bolanos Noemi , Dolores Martin Salvago Maria , Martinez Moya Gabriela , del Toro Codes Marta , de la Cruz Moreno Jesus

Background: Mammary duct ectasia is a bening breast condition which affects primarily middle-aged to elderly women. However, it can occurs wherever there is breast ductal epithelium.Case presentation: A 9-years-old boy was referred to the regional paediatric endocrine clinic from the General Practicioner due to gynaecomastia. Pubic hair development started at the age of 8. Personal and family history were unremarkable except for a history of coping with ...

hrp0086p2-p395 | Gonads &amp; DSD P2 | ESPE2016

Evaluation of Anti-Mullerian Hormone (AMH) Assay Roche® on Umbilical Cord Blood: Determination of Reference Values in Girls and Boys Newborn

Vasseur Damien , Kolenda Camille , Morel Yves , Plotton Ingrid

Background: Anti-Mullerian hormone (AMH) concentration is now well studied for prepubertal boys (Plotton, 2009, 2012) or women in reproductive medicine, but there is few data about reference value in newborns. This dosage could be helpful for the management of disorders of sex development.Objective: The objective was to determine reference values of AMH on umbilical cord blood and to compare the values to DSD new born diagnosed during the evaluation....

hrp0086p2-p396 | Gonads &amp; DSD P2 | ESPE2016

Hypogonadotropic Hypogonadism in a Girl with 2p11.2–2q12.1 Duplication

Bianconi Martina , Scalini Perla , Maccora Ilaria , de Martino Maurizio , Megna Paolo , Stagi Stefano

Background: Patients with chromosome 2 pericentromeric duplication are rarely reported in literature.Objective and hypotheses: To describe a young girl with a congenital malformations syndrome, hypogonadotropic hypogonadism and impaired bone quality associated with a chromosome 2 pericentromeric duplication.Results: The proposita was born at 37th weeks of gestation from a twin pregnancy with a cesarean delivery presenting low birth...

hrp0086p2-p397 | Gonads &amp; DSD P2 | ESPE2016

A Nonvirilized form of Classic 3β-Hydroxysteroid Dehydrogenase Deficiency Due to a Homozygous S218P Mutation in the HSD3B2 Gene in a Girl with Classic Phenylketonuria

Alikasifoglu Ayfer , Buyukyilmaz Gonul , Nazli Gonc E. , Alev Ozon Z. , Kandemir Nurgun , Dundar Munis , Polat Seher , Pektas Emine , Dursun Ali , Sivri Serap , Tokatli Aysegul , Coskun Turgay

Background: 3β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of congenital adrenal hyperplasia (CAH) and caused by loss of function mutations in the HSD3B2 gene. In classic form, affected patients have salt wasting early in infancy and may have ambiguous genitalia in both sexes. Herein we report a nonvirilized female patient with classic form of 3βHSD deficiency due to homozygous S218P mutation in the HSD3B2 gene and classic phenylketonuria....

hrp0086p2-p398 | Gonads &amp; DSD P2 | ESPE2016

Nonclassic Congenital Adrenal Hyperplasia and Functional Ovarian Hyperandrogenism Diagnosed During the Transition Period: Differences in Clinical, Hormonal and Metabolic Aspects

Boquete Hugo , Azaretzky Miriam , Llano Miriam , Jose Iparraguirre Maria , Schwartz Nadia , Suarez Martha , Boquete Carla , Sobrado Patricia , Fideleff Hugo

Introduction: Hyperandrogenism is a common presenting complaint during the transition period; however, clinical, hormonal and metabolic parameters in these patients have not been yet adequately characterized.Objective: To evaluate the disease-related history, clinical presentation and biochemical parameters in patients diagnosed during this period with nonclassic congenital adrenal hyperplasia (NCCAH) due to 21α hydroxylase deficiency and patients w...

hrp0086p2-p399 | Gonads &amp; DSD P2 | ESPE2016

Diagnosis of PCOS in Adolescents Using MRI

Maxime Fondin , Antoine Rachas , Van Huynh , Abella Stephanie Franchi , Jean-Paul Teglas , Lise Duranteau , Catherine Adamsbaum

Background: Polycystic ovarian syndrome (PCOS) diagnosis includes ovarian morphology using transvaginal ultrasound (US). However transvaginal US cannot be used in virginal girls and transabdominal US is not optimal particularly in obese patients.Objective and hypotheses: To evaluate the validity and reproducibility of ovarian morphology measures using MRI for the diagnosis of PCOS in adolescents.Method: This case-control study (200...

hrp0086p2-p400 | Gonads &amp; DSD P2 | ESPE2016

Novel CYP17A1 Mutation and CYP21 Mutations in Two Siblings

Işık Emregul , Keskin Mehmet , Yeşilyurt Ahmet

Background: 17 hydroxylase deficiency is a rare form of congenital adrenal hyperplasia resulting from loss-of-function mutations involving the CYP17 gene. It is characterized by decreased production of glucocorticoids and sex steroids and increased synthesis of mineralocorticoid precursors.Objective and hypotheses: We aimed to identify genetic cause of lack of puberty in a girl and the cause of ambiguous genitalia in her sibling. Fourteen-year-o...

hrp0086p2-p401 | Gonads &amp; DSD P2 | ESPE2016

Aetiology of 46,XY DSD in Algeria; Putative Modifier Role of pV89L Polymorphism in the SRD5A2 Gene in Androgen Receptor Mutation-Negative Subjects

Ladjouze Asmahane , Philibert Pascal , Taleb Ourida , Kedji Lila , Maoudj Abdeljalil , Berkouk Karima , Bouhafs Nadjet , Dahmane Nabila , Melzi Souhila , Anane Tahar , Sultan Charles , Laraba Abdenour

Background: 46,XY DSD is a heterogeneous group of pathologies characterized by a wide spectrum of phenotypes and aetiologies. While advances in molecular genetics have permitted discovery of numerous genes implicated in testicular development, the diagnosis still remains uncertain for most patients with 46,XY DSD.Objective: To identify the aetiologies of 46,XY DSD in Algerian patients.Methods: We conducted a multicentre prospective...

hrp0086p2-p402 | Gonads &amp; DSD P2 | ESPE2016

Children with 46,XY DSD: Etiology, Clinical Profile, Socio-Demographic Details and Sex of Rearing

Shabir Iram , Khurana Madan , Eunice Marumudi , Ammini Ariachery

Background: Disorders of sex development (DSD) is a group of uncommon birth defects. Androgen excess in genetic females and androgen deficiency in genetic males can result in DSD. A child with ambiguous genitalia could be a virilized female or an under-masculinized male. Presented here is the socio-demographic profile, age at diagnosis, clinic 351al profile and etiology of patients with 46,XY DSD who are on follow up at our hospital.Objective and hypothe...

hrp0086p2-p403 | Gonads &amp; DSD P2 | ESPE2016

Endocrine Risk Factors of Testicular Cancer of Children and Teenagers with Testicular Microlithiasis

Kabolova Kseniya , Latyshev Oleg , Samsonova Lubov , Kiseleva Elena , Okminyan Goar , Kasatkina Elvira

Objective and hypotheses: To evaluate endocrine risk factors of testicular cancer of children with testicular microlithiasis.Method: Under research were 74 patients with testicular microlithiasis (average 11.41±4.02). Heredity, case history, endocrine diseases, anthropometric indicators, ultrasound of the scrotum were evaluated.Results: At 20 of 74 (27%) children microlithiasis was combined with strong risk factors of testicle...

hrp0086p2-p404 | Gonads &amp; DSD P2 | ESPE2016

Case Report of a Girl with Secondary Amenorrhea Associated with Aurantiasis Cutis

Decker Ralph , Jacobeit Jens

Background: Aurantiasis cutis is a condition of yellowish or golden skin discoloration that can result from eating excessive amounts of foods containing carotene leading to hypercarotenemia, described causing secondary amenorrhea.Objective and hypotheses: Hypercarotenemia can cause secondary amenorrhea without overconsumption of excessive quantities of carotene.Method: A 16-year-old girl presented to our endocrine outpatient clinic...

hrp0086p2-p405 | Gonads &amp; DSD P2 | ESPE2016

Maternal Ovarian Luteoma Causing Complete Virilization of a Female Fetus

Davis Vanessa , Minutti Carla Z

Background: Maternal ovarian luteoma is a rare condition that may cause virilization of female fetuses.Case presentation: We present the case of a baby born at 29 weeks gestational age to a 20 yo mother with history of two spontaneous abortions and no live births. Physical exam after birth revealed ambiguous genitalia, with a stretched phallic length of 1 cm with hypospadias on the ventral surface of phallus and complete fusion of rugated labioscrotal fo...

hrp0086p2-p406 | Gonads &amp; DSD P2 | ESPE2016

The Experience of GAIA (Abuse Childhood and Adolescence Group) – AOU Meyer

Losi Stefania , Anzilotti Giulia , Scalini Perla , De Martino Maurizio , Stagi Stefano

Background: GAIA is a health service of Meyer Children Hospital composed of a multidisciplinary team specialized in the management of children victims of child abuse. Sexual abuse occurs when a child is engaged in sexual activities that cannot comprehend, for which the child is developmentally unprepared and cannot give consent, and/or that violate the law or social taboos of society. The sexual activities may include all forms of oral-genital, genital, or anal contact by or t...

hrp0086p2-p407 | Gonads &amp; DSD P2 | ESPE2016

State of Knowledge of Late Endocrinological Effects of Hematological Patients Who Has Undergone Chemotherapy

Bien Beata , Budny Joanna , Kabaj Maciej , Gielzak Magda , Urbaniak Donata , Barg Ewa

Introduction: Medical advances result in cure and life extension. Modern methods of oncological treatment lead to late endocrinological side effects.Objective of the study: The aim of the study was to assess the patients’ knowledge of possible result of chemotherapy and its long-term effects linked to gonadal dysfunction.Materials and methods: The survey covered a group of 92 (62 women) patients with hematologic neoplasms at t...

hrp0086p2-p408 | Gonads &amp; DSD P2 | ESPE2016

Disorders of Sex Genitalia in Yaounde: Difficult Questions, Which Answers?

Sap Suzanne , Mouafo Faustin , Sobngwi Eugene , Walburka Yvonne Joko , Dahoun Sophie , Morel Yves , Mure Pierre Yves , Coultre Claude Le , Koki Paul Olivier

Background: Disorders of sex genitalia are a large group of genetic disorders whose management is still unaffordable in many countries in sub Saharan Africa. In Cameroon, although many collaborative initiatives of management are developed, little data are available.Objectives: Describe epidemiological clinical, aetiologies and management aspect of DSD in a developing country.Patients and methods: This is a 5 years retrospective stu...

hrp0086p2-p409 | Gonads &amp; DSD P2 | ESPE2016

Analysis of Clinical Manifestations and Gene Mutations of 5α-Reductase Type 2 Deficiency in 16 Cases

Hou Lele , Liang Liyang , Meng Zhe , Ou Hui , Zhang Lina , Liu Zulin

Background: 5α-reductase type 2 deficiency is a rare autosomal recessive hereditary disease. SRD5A2 gene defects lead to dysfunction of 5α-reductase type 2, that impair the conversion of testosterone to dihydrotestosterone and cause clinical features.Objective and hypotheses: To analyze the clinical manifestations and gene mutations of 5α-reductase type 2 deficiency in childhood.Method: The clinical features, laborat...

hrp0086p2-p410 | Gonads &amp; DSD P2 | ESPE2016

Unusual Differential Diagnosis of Hyperandrogenism in Adolescent Female Treated for Polycystic Ovarian Syndrome

Blasi Carolina Di , Amies-Oelschlager Anne-Marie , Ness Kathryn , Giesel Ann

Background: Polycystic ovarian syndrome (PCOS) is the most common cause of oligomenorrhea and hyperandrogenism. Diagnostic criteria for PCOS includes ovarian dysfunction and clinical or biochemical evidence of hyperandrogenism. The differential diagnosis includes congenital adrenal hyperplasia as well as steroid producing tumors.Case presentation: 18-years-old female presented to establish care with a history of PCOS diagnosed at the age of 11 years. She...

hrp0086p2-p411 | Gonads &amp; DSD P2 | ESPE2016

Phenotypic and Hormonal Variability in 46,XY Subjects with SF-1 Mutations

Dillies Natacha , Brasseur Aurelie , Rouleau Stephanie , Metz Chantal , Naud-Saudreau Catherine , Morel Yves , Coutant Regis

Background: 46,XY patients with SF-1 mutations have sex reversal or ambiguous genitalia (with or adrenal insufficiency) due to dysgenetic testis. In most cases, a severe defect in testosterone (T) production has been found. We described here 3 cases showing the variability in T production.Results: Case 1: A was seen at the age of 17 years for primary amenorrhea. Tanner stage was B2PH3. External genitalia were normal. FSH was 55 IU/l, LH 17 IU/l,...

hrp0086p2-p412 | Gonads &amp; DSD P2 | ESPE2016

Towards the Roles of Kisspeptins in the Control of Gonadotropic Axis: Focus on Peripheral Signaling in Androgen-Dependent Tissues in the Experimentally Induced Model Hypogonadotropic Hypogonadism in Male Rats

Nikitina Irina , Khoduleva Yulia , Nagornaya Irina , Bairamov Alekber , Shabanov Petr , Masel Alisa

Background: Recently kisspeptins are considered as a key gatekeepers of the regulation of the gonadotropic axis.Objective and hypotheses: To investigate the impact of experimentally induced hypogonadism on kisspeptins signaling in androgen-dependent tissues and blood.Method: Wistar male rats (29 in total) were used. Rats were divided into four groups. Group 1 (control, prepubertal rats aged 2 months, n=7). Group 2 (control...

hrp0086p2-p413 | Gonads &amp; DSD P2 | ESPE2016

Two Patients Presenting the Extremes of the Phenotypic Spectrum of 5 alfa Reductase Deficiency: One with at New Mutation

Jensen Karen S , Hvistendahl Gitte M , Kristensen Kurt , Olsen Henning , Vogel Ida , Birkebaek Niels H

Background: The large phenotypic spectrum of Disorders of Sex Development are caused by mutations in many different genes, but a large phenotypic spectrum of sexual disturbancies may also be seen with different mutations in the same gene.Objective and hypotheses: To report on one new mutation in the 5 alfa reductase (SRD5A2) gene, and describe the extremes of the phenotypic spectrum of 5 alfa reductase deficiency presented in two patients.<p class="a...

hrp0086p2-p414 | Gonads &amp; DSD P2 | ESPE2016

Disorders of Sex Development 45,X/46,XY: Clinical and Laboratory Characteristics of Patients

Sannikova Ekaterina , Latyshev Oleg , Samsonova Lubov , Kiseleva Elena , Okminyan Goar , Kasatkina Elvira

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY.Subjects and methods: It was included 248 patients with genital ambiguity, which were divided into groups based on cytogenetic survey. All children with mosaicism 45,X/46,XY evaluated the structure of the external genitalia on the external masculinization score (EMS, range 0–12), ultrasound examination, the definition of anti-Mu...

hrp0086p2-p415 | Gonads &amp; DSD P2 | ESPE2016

Reproductive Function of Central Precocious Puberty in Girls: A Systematic Review

Kim Ji Hyun , Lee Jong Bin

Background: GnRH analogues are the treatment of choice for central precocious puberty. It has been proven beneficial effects on final adult height, but the reproductive function has many debate especially about PCOS. The criteria used for the diagnosis of PCOS can be more difficult to judge because it is not uniform between the studies.Method: The Medline, Cochrane, EMBASE, Web of Science, SCOPUS data bases were searched for studies published up to Janua...

hrp0086p2-p416 | Gonads &amp; DSD P2 | ESPE2016

Cytogenetic Variability and Phenotypic Findings in Patients with Ovotesticular Disorder of Sex development

Mekkawy Mona , Mazen Inas , kamel Alaa , Mohamed Amal , El Dessouky Nabil

Background: Ovotesticular disorder of sex development (OT- DSD) is a very rare disorder characterized by the presence of both ovarian and testicular tissue in the same individual. It has an approximate incidence of less than 1/20 000.The patients usually present with ambiguous genitalia and the majority show a 46,XX karyotype, with absence of the SRY sequence.Objective and hypotheses: The study reports the cytogenetic variability and gonadal histological...

hrp0086p2-p417 | Gonads &amp; DSD P2 | ESPE2016

Cytogenetic Study of Sex Chromosomal Abnormalities in Egyptian DSD Patients

Mazen Inas , Kamel Alaa , Mekkawi Mona , El aidy Aya

Background: Sex chromosome DSD constitute an important category in the definition of DSD.Objective and hypotheses: The study included 379 patients comprising a wide spectrum of presenting features, associated with different arrays of chromosomal abnormalities aiming at. Studying the prevalence of Sex chromosomal abnormalities among DSD patients.Method: Patients were subjected to detailed clinical examination, pubertal staging, cyto...

hrp0086p2-p418 | Gonads &amp; DSD P2 | ESPE2016

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

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

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

hrp0086p2-p419 | Gonads &amp; DSD P2 | ESPE2016

XLAG Syndrome Case Accompanying a New ARX Mutation and has a Interhemispheric Cyst

Korkut Sabriye , Doganay Selim , Ozdemir Ahmet , Kurtgoz Serkan , Kurtoglu Selim , Gunes Tamer

Background: X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome which is a clinical spectrum of ARX mutations is presented with severe growth deficiency, abnormal genitalia and resistant seizures in neonatal period. We present a XLAG case which was formed due to a new ARX mutation and has an appearance of a huge interhemispheric cyst different from classic neuroradiological imagings.Case: The case which was diagnosed with prenatal hydrocephal...

hrp0086p2-p420 | Gonads &amp; DSD P2 | ESPE2016

Congenital Adrenal Lipoid Hyperplasia in a 30-Year-Old Female with a Tall Stature

Wada Yasunori , Miyoshi Tatsuya , Hasegawa Yukihiro , Chida Shoichi

Background: Congenital lipoid adrenal hyperplasia is an autosomal recessive adrenal and gonadal steroidogenesis disorder usually caused by a genetic abnormality in the STAR gene encoding the steroidogenic acute regulatory protein (StAR). For 46,XY cases, sex steroid hormone replacement therapy must be initiated together with glucocorticoid and mineralocorticoid treatment.Objective and hypotheses: We present the case of a 30-year-old female with ...

hrp0086p2-p421 | Gonads &amp; DSD P2 | ESPE2016

Onset of Puberty in Healthy Boys is Associated with a Decreased BMI Compared to Values Prior to the Onset of Puberty

Bundak Ruveyde , Darendeliler Feyza , Bas Firdevs , Poyrazoglu Sukran , Gunoz Hulya , Neyzi Olcay

Background: In several studies it has been shown that BMI influences the timing of puberty, mostly in girls, but has not been a consistent finding in boys.Objective and hypotheses: To investigate the association between BMI and timing of pubertal onset in a population based sample of Turkish boys.Method: Data on growth and pubertal development were collected by biannual visits to six primary and secondary level schools in Istanbul ...

hrp0086p2-p422 | Gonads &amp; DSD P2 | ESPE2016

Late Clinical Presentation, Biological Assessment and Management of PAIS in a Developing Country

Brindusa Gorduza Daniela , Tambo Mouafo Faustin , Gay Claire-Lise , Plotton Ingrid , Birraux Jacques , Dahoun Sophie , Morel Yves , Mouriquand Pierre , Le Coultre Claude , Mure Pierre-Yves

Background: Partial androgen insensitivity syndromes (PAIS) are rare 46,XY DSD (disorder of sex development).Objective and hypotheses: Three families with PAIS (six patients) are reported, focusing on their phenotype and treatment depending on sex of rearing. Biological investigations and surgical management are described.Method: Between 2009 and 2015 a consultation for uro-genital malformations in pediatric patients was set up in ...

hrp0086p2-p423 | Gonads &amp; DSD P2 | ESPE2016

Sisters with 46XY Gonadal Dysgenesis and Gonadoblastoma

Petychaki Foteini , Vlachopapadopoulou Elpis , Dikaiakou Eirini , Mpaka Margarita , Kitsiou-Tzeli Sofia , Mavrou Ariadni , Michalakos Stefanos

Background: 46XY DSD with female phenotype is classified as complete gonadal dysgenesis (46XY CGD) if a uterus is present or a disorder of androgen synthesis or action if a uterus is absent. The genetic causes of 46XY CGD are not fully clarified. Less than 15% of the cases were found to carry mutations of the sex determining region Y gene (SRY).Purpose: The description of the rare case of two sisters affected of 46XY CPD and gonadoblastoma with SRY mutat...

hrp0086p2-p424 | Gonads &amp; DSD P2 | ESPE2016

Follow-up to Adulthood of Two 46,XY Siblings with 5-alpha Reductase Deficiency and Different Sex of Rearing

Chiniara Lyne , Sandberg David , Van Vliet Guy

Background: 46,XY patients with 5α-reductase deficiency (5-ARD), reared from birth as girls, are reported to self-reassign as boys subsequent to a masculinizing puberty; whether this holds true in cases of early orchidectomy is less well documented.Objective and hypotheses: Prepubertal orchidectomy reduces the likelihood of gender self-reassignment.Method: Presentation, management and outcome of two siblings with 5-ARD with na...

hrp0086p2-p425 | Gonads &amp; DSD P2 | ESPE2016

Constitutional Delay of Puberty: Clinical and Hormonal Characteristics of Patients

Osipova Lubov , Latyshev Oleg , Samsonova Lubov , Okminyan Goar , Kiseleva Elena , Kasatkina Elvira

Objective and hypotheses: To examine anthropometric, hormonal characteristics and their relationship in boys with constitutional delay of puberty (CDP).Method: The study included 47 boys older 13.2 year old with CDP. It evaluated anthropometric indicators, bone age and hormonal status.Results: The patients were divided: the first group consisted of 25.5% (12/47) of boys with pathological growth (Median/Me Ht-SDS=−2.3). Of the...

hrp0086p2-p426 | Gonads &amp; DSD P2 | ESPE2016

Comparison between Serum Vitamin D Levels in Precocious Pubertal Girls and Normal Girls

Woo Baek Joon , Suk Shim Young , Jeong Oh Yeon , Jae Kang Min , Yang Seung , Hwang Il Tae

Background: Vitamin D deficiency has been associated with chronic diseases, such as diabetes mellitus, obesity and autoimmune disease. However, There are only a few studies about the correlation between Vitamin D levels and precocious puberty in girls.Objective and hypotheses: In the previous study, vitamin D levels may be associated with precocious puberty. We also aimed to re-evaluate the relationship between serum 25-hydroxyvitamin D (25(OH)D) and pre...

hrp0086p2-p427 | Gonads &amp; DSD P2 | ESPE2016

Complete Virilization without Salt Wasting in a 7-year-old Haitian Child with Congenital Adrenal Hyperplasia

Billy Telcide , von Oettingen Julia , Van Vliet Guy , Desmangles Jean-Claude , Louis Hermione Risselin , Jean Louis Romain

Background: Genetic females with congenital adrenal hyperplasia (CAH) from severe 21-hydroxylase deficiency may be declared at birth as cryptorchid boys. Neonatal salt wasting leads to early reassignment but in its absence, the condition may go unrecognized.Case presentation: A term newborn with non-palpable gonads but a penile urethra was declared as boy. At 4.8 years, the child presented with sexual precocity. Height was +2.3 S.D., penil...

hrp0086p2-p428 | Gonads &amp; DSD P2 | ESPE2016

Hematocolpos Revealed by Non-cyclic Lower-back Pain in a Pre-menarcheal Girl

Ly Nathalie , Jaroussie Marianne , Kyheng Christele , De Filippo Gianpaolo , Levy-Zauberman Yael , Fernandez Herve , Duranteau Lise

Background: Hematocolpos is a rare condition in young girls that can be caused by imperforated hymen or vaginal agenesis. It is usually diagnosed at early puberty with cyclic abdominal pain and amenorrhoea. Menarche is usually observed two years after the start of puberty; sometimes pre-menarcheal bleeding can occur, ranging from isolated premature menarche to spotting in course of puberty. In case of imperforated hymen or vaginal anomaly, a pre-menarcheal uterine bleeding can...

hrp0086p2-p429 | Gonads &amp; DSD P2 | ESPE2016

Novel AMH and AMHR-II Mutations in Two Egyptian Families with Persistent Mullerian Duct Syndrome

Mazen Inas , El Gammal Mona , El Aidy Aya , Abdel Hamid Mohamed

Background: Anti-Mullerian hormone (AMH) is produced by Sertoli cells and signals through two transmembrane receptors (AMHR), specific type II and type I, leading to regression of Mullerian ducts (uterus and fallobian tubes) during fetal male sex differentiation. Mutations of AMH and AMHR-II genes lead to persistence of Mullerian ducts in males. These conditions are transmitted in a recessive autosomal pattern and are symptomatic in 46,XY phenotypic males.<p class="abstext...

hrp0086p2-p430 | Gonads &amp; DSD P2 | ESPE2016

Study of Genetics of Human Disorders of Sexual Development. Research Project.

Markosyan Renata

Disorders of sex development (DSD) are a group of congenital developmental disorders in which the chromosomal, gonadal, or anatomical sex is atypical. The clinical diagnosis and management of DSD are difficult and complex because of the various aetiology and diverse manifestation. The project ‘Genetics of Human Disorders of Sexual Development’ is funded by Swiss National Science Foundation and fulfilled by the University of Geneva Medical School (Switzerland), the Me...

hrp0086p2-p431 | Gonads &amp; DSD P2 | ESPE2016

46XX Male Syndrome

Markosyan Renata

Background: The XX male syndrome – Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. The project ‘Genetics of Human Disorders of Sexual Development’ is funded by Swiss National Science Foundation and fulfilled by the University of Geneva Medical School, the Medical Centers from Armenia, Poland and Ukraine. The goal is to identify mutation...

hrp0086p2-p432 | Gonads &amp; DSD P2 | ESPE2016

45,X/47,XYY Chromosomal Mosaicism as a Cause of 46,XY Disorder of Sex Development

Anik Ahmet , Kasikci Esma Tugba , Sahin Suzan , Unuvar Tolga , Turkmen Munevver Kaynak

45,X/47,XYY mosaicism is quite rare, and, like 45,X/46,XY, it can be associated with mixed gonadal dysgenesis, Turner syndrome or apparently normal male/female phenotype. An infant aged 16 days, born full-term via spontaneous vaginal delivery to a 32 year-old G1P1 woman. His pregnancy and perinatal period were both uncomplicated except for maternal long QT syndrome. There was third degree cousin consanguinity between the parents. There was no any virilizing drug use and no mat...

hrp0086p2-p433 | Gonads &amp; DSD P2 | ESPE2016

46,XY Complete Gonadal Dysgenesis with Late Diagnosis

Mladenov Vilhelm , Andonova Silvia , Savov Alexey , Hachmeriyan Mari , Popova Ralitza , Iotova Violeta

Background: 46,XY Complete Gonadal Dysgenesis (Swyer Syndrome) is a rare cause for DSD with incidence ≈1:80000. It is characterised by defective formation of the gonads as a result of structural anomalies in the sex chromosomes or mutations in specific genes. In 20% of the patients deletion/mutation in SRY can be found. Mutations, deletions or duplications in other genes (NRD5A1, DHH, DAX1, WNT4, DMRT, etc.) are also reported. The phenotype is completely female and the d...

hrp0086p2-p434 | Gonads &amp; DSD P2 | ESPE2016

Diagnosis, Treatment and Gene Mutation Analysis of the Case with Steroid 5α-Reductase Type 2 Deficiency

Ma Xinyu

Background: To explore the reason of children on the 46,XY DSD.Objective and hypotheses: To analyze the clinical characteristics, diagnosis and management of a case with steroid 5α-reductase type 2 deficiency (SRD5A2) and perform related gene mutation analysis with a view to raising awareness of this disease.Method: A 2 year old 5 months child came with abnomal vulval shape. Karyotype was analyzed by chromosome cultivation. Gn...

hrp0086p2-p435 | Gonads &amp; DSD P2 | ESPE2016

An Infant with 49XXXXY Syndrome: A Case Report from Sri Lanka

Atapattu Navoda , Liyanage Chaminda , Naotunna Chamidri

Introduction: 49XXXXY syndrome is the rarest X chromosome aneuploidy with an approximate incidence of 1: 85 000–100 000 male births. The classic triad of symptoms include mental retardation, hypogonadism and radioulnar synostosis along with congenital heart diseases; Patent Ductus Arteriosus being the commonest defect reported, Distinct facial features, skeletal defects, cerebral and renal defects. To the best of our knowledge this is the first reported case of 49XXXXY sy...

hrp0086p2-p436 | Gonads &amp; DSD P2 | ESPE2016

Mixed Gonadal Disgenesia: Patients of Instituto da Criança, HC-FMUSP

Ferreira Marianna , Pinheiro Claudia , Queiroz Edjane , Brigatti Nathalia , Ito Simone , Steinmetz Leandra , Cominato Louise , Setian Nuvarte , Dichtchekenian Vae , Filho Hamilton Menezes , Manna Thais Della , Damiani Durval

Background: Mixed gonadal dysgenesis (MGD) is a heterogeneous group of gonadal, chromosomal and phenotypic abnormalities. The diagnosis is based on the presence of testicular tissue and streak.Objective and hypotheses: Casuistics description of patients with MGD in our hospital.Method: A retrospective analysis of medical records.Results: We studied 15 patients. The age at first visit ranged from two weeks to ...

hrp0086p2-p437 | Gonads &amp; DSD P2 | ESPE2016

Primary Amenorrhea as Alarm Manifestation in a Oligosymptomatic Girl with Xq Deletion and Turner Syndrome

Messina Maria Francesca , Civa Rosi , Corica Domenico , Trombatore Jessica , Santucci Simona , De Luca Filippo

Background: Turner syndrome (TS) affects about one in 2500 liveborn females. It results from the loss of all or part of X-chromosome and has a variable phenotype. The classical form is characterised by short stature, skeletal abnormalities, lymphedema, renal and cardiac anomalies, webbed neck, peculiar neurocognitive profile and gonadal dysgenesis. While loss of up to 2/3 of the X chromosome short arm is compatible with normal fertility, chromosome deletions involving Xq are o...

hrp0086p2-p438 | Gonads &amp; DSD P2 | ESPE2016

Hypogonadotropic Hypogonadism in a Patient with Vanishing Testis Syndrome – Case Report

Szanto Zsuzsanna , Nagy Annamaria , Beldean Monica , Calancea Igor , Kun Imre Zoltan

Vanishing testis syndrome leads to hypergonadotropic hypogonadism. We report the case of a 28-years-old patient, who was diagnosed with bilateral cryptorchidism and phymosis at birth. At one, three and seven years-of-age orchidopexy was unsuccessfull to find testicular tissue. Meanwhile one cure of human chorionic gonadotropin (hCG) therapy was applied, without success. Endocrine investigation was continued just in 2011, at 24 years-of-age, when infantile external male genital...

hrp0086p2-p439 | Gonads &amp; DSD P2 | ESPE2016

17 Alpha Hydroxylase, 17–20 Lyase Deficiency, a Case with Hypocalcemic Symptoms

Akbas Emine Demet , Doger Esra , Ugurlu Aylin Kilinc , Bideci Aysun , Camurdan Orhun , Cinaz Peyami

17 alpha hydroxylase, 17–20 lyase deficiency is an autosomal recessive inherited congenital adrenal hyperplasia type which is due to mutation in CYP17A1 gene and characterized with adrenal and gonadal sex steroid deficiency, delayed puberty in girls, XY sex development disorder in boys and hypergonadotrophic hypogonadism in both gender.Case: 15 year old girl referred to our clinic with vomiting, fatigue and muscle spasms. In her physical examination...

hrp0086p2-p440 | Gonads &amp; DSD P2 | ESPE2016

An Uncommon Case of Adolescent with POF

Queirolo Sara , Balice Piero

Background: Premature ovarian failure (POF) is uncommon in pediatrics and when occurs during the adolescence is typically iatrogenic or due to chromosomal anomaly. Also many genes have been identified that contribute to the development of POF, and most of these mutations are extremely rare.Objective: We describe a case of 15 years old female presented short stature and secondary amenorrhea, after a normal puberty but without peak height velocity. She was...

hrp0086p2-p441 | Gonads &amp; DSD P2 | ESPE2016

Trisomy 9 Syndrome in an Infant with Ambiguous Genitalia

Rostami Parastoo

The pericentric inversion of Chromosome 9 is one of the most common chromosomal abnormalities, which could be associated with various manifestations in some cases. Herein, a patient is presented with ambiguous genitalia that karyotyping revealed 9 inv (p12q13). Trisomy 9 syndrome could be considered in the list of differential diagnosis of those with ambiguous genitalia, while chromosomal karyotype and culture could be recommended in children with ambiguous genitalia. ...