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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

hrp0084p3-780 | DSD | ESPE2015

Clinical Findings, Endocrine Profile and Genetic Features of 5α-Reductase-2 Deficiency

Russo Gianni , Baldinotti Fulvia , Ghirri Paolo , Meroni Silvia , Colombo Ilaria , Moscuzza Francesca , Baroncelli Giampiero I , Sessa Maria R , Dati Eleonora , Bertelloni Silvano

Background: The 5α-reductase-2 (5R2) deficiency is a rare 46, XY disorder of sex differentiation caused by mutations in the 5R2 gene. Diagnostic and clinical management is not well definite.Aims and objectives: To describe relevant features of 5R2 deficiency in a large sample.Methods: Retrospective records of persons with 5R2 deficiency were reviewed and clinical, endocrinological, genetic data analysed....

hrp0084p3-781 | DSD | ESPE2015

Aromatase Deficiency due to Novel CYP19A1 Mutation in an Egyptian Patient with Ambiguous Genitalia

Mazen Inas , Mclreavey Ken , Hamid Mohamed Abdel

Background: Mutations in CYP19A1 gene have been described in both females and males and to date only 20 cases with aromatase deficiency have been reported. In newborns, aromatase deficiency should be considered in the aetiology of 46, XX DSD, after ruling out congenital adrenal hyperplasia.Objective and hypotheses: Report of a case with CYP19A1 mutation.Method: Here we report a patient who was presenting at the age of 20 years old ...

hrp0084p3-782 | DSD | ESPE2015

The Time of First Presentation at the Department of Paediatric Endocrinology of Patients with 46, XY DSD

Kolesinska Zofia , Niedziela Marek

Background: The atypical appearance of the external genitalia in a neonate, defined as the external masculinization score (EMS) less than 11, should incline the clinicians to perform diagnostic procedure ideally managed by a multidisciplinary team in a tertiary centre. Among the patients with disorders of sex development (DSD), the most challenging subgroup in terms of aetiology, is the subgroup with 46, XY karyotype.Objective and hypotheses: To study th...

hrp0084p3-783 | DSD | ESPE2015

Impact of Neonatal Exposure to Different Doses of Bisphenol A on the Hypothalamic-Pituitary-Testicle Axis in Male Rat

Chen Lin Qi , Zhou Wen Wen , Yang Fan , Wu Hai Ying , Jin Mei Fang

Background: Male genital abnormalities may be associated with environmental endocrine disruptors.Objective and hypotheses: To observe the hypothalamic kiss-1 gene and the testis androgen acceptor (AR) gene expression level changes and the level of serum luteinizing hormone (LH), follicle stimulating hormone (FSH); testosterone (T) and Inhibin B (INH B) in neonatal rats which exposure to different doses of bisphenol-A (BPA). In order to explore the effect...

hrp0084p3-784 | DSD | ESPE2015

A Cross-Sectional Growth Reference and Chart of Stretched Penile Length for Japanese Boys Aged 0–7 Years: Ethnic Differences and Secular Changes

Ishii Tomohiro , Matsuo Nobutake , Inokuchi Mikako , Hasegawa Tomonobu

Background: Reference values for penile length have not been established for Japanese boys.Objective: We aimed to develop percentiles and means with standard deviations of stretched penile length (SPL) in Japanese boys.Method: We conducted a cross-sectional study in 1 628 Japanese boys aged <9 years from 2007 through 2014. The LMS method was used to develop a growth reference and chart for SPL in boys aged 0–7 years. Inter...

hrp0084p3-785 | DSD | ESPE2015

Recurrent Orchitis in a Patient with True Hermaphroditism

de Souza Leticia Guimaraes , Berrutti Barbara , Junior Jose Antonio Diniz Faria , Ybarra Marina , Steinmetz Leandra , Cominato Louise , Filho Hamilton de Cabral Menezes , Kuperman Hilton , Manna Thais Della , Damiani Durval

Background: Ovotesticular Disorder of Sex Development (OTDSD – true hermaphroditism) is rare, characterized by the presence of both presence of both testis and ovay tissue. Usually, these patients seek medical attention due to ambiguous genitalia.Case presentation: A 15-year-old boy, with ‘atypical’ genitalia and breast enlargement came for surgical correction. His genitalia had a more masculine aspect at birth and he had been submitted to...

hrp0084p3-786 | DSD | ESPE2015

Isolated Persistent Pubertal Gynecomastia in Three Adolescent Males as the Only Phenotypic Expression of PAIS with Androgen Receptor Gene Mutations

Philibert Pascal , M'Bou Felicien , Audran Francoise , Gaspari Laura , Paris Francoise , Sultan Charles

Background: Pubertal gynecomastia is observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1–2 years, although sometimes pubertal gynecomastia persists.Case presentation and methods: We investigated three adolescent males with isolated persistent pubertal gynecomastia: twin brothers and an unrelated adolescent boy. The twins (17 years) had normal male external genitalia. Biological testing showed normal test...

hrp0084p3-787 | DSD | ESPE2015

Identical Twins Raised as Sister and Brother

Willig Rolf Peter

Background: Disorders of sex development (DSD) can be caused by many hormonal and genetic defects. One rare condition is a mutation of the SRY-gene disturbing normal sex differentiation. Identical twins with this disorder of varying degree are presented to learn how difficult social sex assignment may be in such a case.Case presentation: Identical 46, XY twins were born in 1985 from non consanguineous, healthy parents of German origin. T...

hrp0084p3-788 | DSD | ESPE2015

Persistent Müllerian Duct Syndrome Associated with Anorchia Caused by a Compound Heterozygous Mutation in the AMHR-II Gene

Rojo Jaime Cruz , Lorenzo Lucia Garzon , Fernandez Jone Agirregoitia , del Pozo Cristina Martinez , Picard Jean-Yves , del Pozo Jaime Sanchez

Background: The persistent Müllerian duct syndrome (PMDS) is a rare 46-XY disorder of sex development, characterized by the persistence of Müllerian derivatives (uterus, Fallopian tubes) in otherwise normally virilised males. The condition is transmitted as a recessive autosomal trait and is caused in most cases by a defect in either the anti-Müllerian hormone (AMH) or the AMH type-II receptor (AMHR-II) genes.Case report: We present a 9 ye...

hrp0084p3-789 | DSD | ESPE2015

A Novel Mutation in Steroidogenic Factor Gene in a Patient with 46, XY DSD without Adrenal Insufficiency

Anik Ahmet , Catli Gonul , Abaci Ayhan , Tuhan Hale Unver , Onay Huseyin , Aykut Ayca , Bober Ece

Introduction: Steroidogenic factor-1 (SF1/NR5A1) is a nuclear receptor, which regulates genes that have functions in the development of adrenal glands and gonads, reproduction, and other metabolic functions.Case presentation: A 20-day-old infant was admitted due to ambiguous genitalia. Physical examination revealed a 2×1 cm phallus, bifid scrotum, and hypospadias. Both gonads were palpable in the inguinal canal. Serum levels of adrenal androgens (17...

hrp0084p3-790 | DSD | ESPE2015

Evaluation of Two New Anti-Müllerian Hormone Assays for the Investigation of Disorders of Sexual Development in Neonates

Ho Clement K M , Setoh Johnson W S

Background: Anti-Müllerian hormone (AMH) inhibits the in utero growth of the Müllerian structures in female fetuses. In neonates with suspected disorders of sexual development (DSDs), the presence of testicular tissues and functioning Sertoli cells can be investigated by testing for serum AMH concentration.Objective: To evaluate the performance of two new AMH assays in a hospital laboratory.Method: The technical performan...

hrp0084p3-791 | DSD | ESPE2015

‘Female’, ‘Male’, or ‘Between’ in a 46, XY-Patient with a 17ß-HSD3-Mutation

Willig Rolf Peter , Algenstaedt Petra , Mohnike Klaus , Hiort Olaf

Background: 46, XY-disorders of sex development (DSD) are due to different causes like androgen insensitivity, gonadal dysgenesis, defects in testosterone metabolism and others. Exact diagnosis is mandatory prior to medical advice, therapeutic steps, or even surgical procedures. To show the difficulties of gender assignment before and also after a correct diagnosis we describe a patient who waited 35 years for the complete diagnosis, but was advised, treated and operated befor...

hrp0084p3-792 | DSD | ESPE2015

Physical Assessment and Growth Curve of 46, XY Disorders of Sex Development Children Who Aged 0–16-Years-Old

Wu Di , Gong Chunxiu , Chen Hui

Background: The growth pattern of normal children was inappropriately used to evaluate those who with DSD.Objective: To understand growth and development of the 46, XY disorders of sex development (DSD) children, drawing height, weight and BMI curve of children with 46, XY DSD at the age of 0–16.Method: The registration database was used in this study. Non- CAH 0-16 years old 46, XY DSDs were collected. Growth curves were fitt...

hrp0084p3-793 | DSD | ESPE2015

A Novel Mutation of the AR Gene Causes Androgen Insensitivity Syndrome: A Case Report

longjiang Zhang , xionghui Xian , shufeng Tian , xia Liu , zhe Su

Background: A 8-year-old Chinese girl was referred by the endocrinologist of our hospital because of ambiguous external genitalia.Physical examination revealed breast and axillary hair and pubic hair at Tanner stage 1, There had two mass located within two side of inguinal regions,labia fusion, the size of clitoris was 2.0×1.0 cm, there was a vaginal opening. US images revealed a solid nodile suggestive of testicular tissue located in both inguinal regions. The MRI exam c...

hrp0084p3-794 | DSD | ESPE2015

A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

Tuhan Hale , Anik Ahmet , Aykut Ayca , Onay Huseyin , Bober Ece , Abaci Ayhan

Background: Androgen insensitivity syndrome is the most common cause of 46,XY disorders of sex development. This condition is inherited in an x-linked recessive pattern and the most common causes are inactivating mutations in the androgen receptor (AR) gene.Objective and hypotheses: In this study, we report a novel AR gene mutation in an adolescent patient presenting with primary amenorrhea.Method: A 16-year-old p...

hrp0084p3-795 | DSD | ESPE2015

Polymorphisms and Mutations of the Genes INSL3 and HOXD13 in the Pathogenesis of Isolated Cryptorchidism in Greece

Vappa Sofia , Sofocleous Christalena , Nikas Konstantinos , Mastorakos Georgios , Kanavakis Emmanouel , Kanaka-Gantenbein Christina

Background: Current literature suggests an important role of both endocrine disruptors and genetic factors in the occurrence of cryptorchidism.Objective and hypotheses: The aim of the study is to investigate the impact of variants in INSL3 and HOXD13 genes in the pathogenesis of isolated cryptorchidism in Greece. 43 boys with isolated cryptorchidism and 50 healthy non-cryptorchidic boys (control group) were enrolled.<p class="abstex...

hrp0084p3-796 | DSD | ESPE2015

Tumours of Gonads in Patients with Disorders of Sex Development – 46,XY Gonadal Dysgenesis

Latyshev Oleg , Samsonova Lubov , Okulov Alexey , Kiseleva Elena , Okmynuan Guar

Background: Disorders of sex development, especially with Y chromosome material, are the main factor of an increased risk of gonadal tumour. The main idea of this study was to investigate the prevalence of gonad tumours in patients with 46,XY gonadal dysgenesis.Methods: This study included 9 patients with 46,XY gonadal dysgenesis: seven patients with partial and two with total gonadal dysgenesis. Among nine patients there were two patients with Frasier s...

hrp0084p3-797 | DSD | ESPE2015

Screening for Y Microdeletions in Patients with Hypergonadotropic Hypogonadism due to Disorder of Sexual Development

Karaoglan Murat , Keskin Mehmet , Keskin Ozlem

Introduction: Hypergonadotropic hypogonadism is mainly characterised by streak or dysgenetic gonads. It is primer gonadal insufficiency which occurs as a result of chromosome abnormalities, gonad developmental and steroid synthesis defects. However, Y microdeletions associated hypergonadotropic hypogonadism due to disorder of sexual development has been reported, there are no many studies. Moreover, it is not known enough to contribution for development of sexual ambiquity. Ai...

hrp0084p3-798 | DSD | ESPE2015

‘I am a Boy Since 8-Years-Old’: Female During Childhood, Virilization at Puberty

Kilinc Suna , Guven Ayla , Helvacioglu Didem

Background: 5α-reductase-deficiency is an autosomal recessive disorder with clinical spectrum ranges from a male phenotype with hypospadias to a female phenotype. Many different mutations of SRD5A2 gene has been described in affected patients and clinical signs can vary depending on the degree of enzyme deficiency.Case presentation: 14-years-old girl admitted to our clinic because of feeling as a boy since 8-years-old. Parents were first degree cous...

hrp0084p3-799 | DSD | ESPE2015

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

Kocyigit Cemil , Catli Gonul , Saritas Serdar , Onay Huseyin , Dundar Bumin Nuri

Background: Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, penoscrotal hypospadias, bifid scrotum with descending or undescending testes and gynecomastia. It is x-linked recessive disease resulting from mutations in androgen receptor (AR) gene.Objective and hypothesis: To present clinical characteristics of a novel mutation in the AR gene in an adolescent boy with PAIS who presented with gynecomastia ...

hrp0084p3-800 | DSD | ESPE2015

A Novel Mutation of the AMH in an Egyptian Male with Persistent Mullerian Duct Syndrome

Mazen Inas , Gammal Mona El , Hamid Mohamed Abdel

Background: Persistent Müllerian duct syndrome (PMDS) is a relatively rare autosomal recessive disorder of sex development (DSD), characterized by the presence of Müllerian duct derivatives in 46,XY phenotypic males. PMDS is due to mutations in the AMH gene or its type II receptor gene AMHR2. To date; more than 50 different mutations of the anti-Müllerian hormone (AMH) gene have been reported.Case report: Here, we report a novel mutation o...

hrp0084p3-801 | DSD | ESPE2015

Pseudo-Precocious Puberty in Androgen Insensitivity Syndrome Secondary to a Prepubertal Oestrogen Producing Sertoli Cell Tumour

Warman Diana Monica , Berensztein Esperanza , Marino Roxana , Ramirez Pablo , Costanzo Mariana , Maceiras Mercedes , Rivarola Marco A , Belgorosky Alicia

Background: Androgen insensitivity syndrome (AIS) is an X-linked hereditary disease with AR gene loss-of-function mutations in 46,XY patients. They undergoes poor development of secondary sex characteristics, except for breast development at puberty. AIS patients are prone to develop germ cell cancer, even though with lower incidence than in dysgenetic gonads secondary to defects in organogenesis.Case presentation: We described a 3-years-old gir...

hrp0084p3-802 | DSD | ESPE2015

Gender Reassignment in Muslim Communities

Babiker Amir , Ali Amer Al , Batti Turki Al , Jurayyan Nasir Al , Drop Stenvert L

Background: The commonest cause of 46, XX disorders of sex development (DSD) is congenital adrenal hyperplasia (CAH). We report two female virilised siblings with uncontrolled CAH who were reared as boys since birth. Different team members were involved in management. We discuss here gender reassignment and the psychosocial implications from Islamic perspectives.Case reports: An eight and 11 years old severely virilised CAH Yemeni girls were raised as bo...

hrp0084p3-803 | DSD | ESPE2015

A Case of Klinefelter Syndrome with an Atypical Presentation

Gul Ulku , Bas Veysel Nijat , Okdemir Deniz , Akin Leyla , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Background: Klinefelter syndrome, also known as 47, XXY, is a disorder characterized by tall stature, hypogonadism and mental retardation which is caused by nondisjunction events during meiosis and occurs in 500–1 000 live male birth. Here we report a patient with Klinefelter syndrome who presented with short stature, in contrast to common tall stature presentation and was diagnosed with GH deficiency.Case: A 7-year-old male presented with short sta...

hrp0084p3-804 | DSD | ESPE2015

A Practical and Integrative Approach to Differential Diagnosis between 46,XY Disorder of Sexual Development

Karaoglan Murat , Keskin Mehmet , Ozkur Ayhan , Keskin Ozlem

Introduction: 46,XY disorder of sexual development can cause clinical spectrum varying from complete female phenotype to isolated micropenis. However, the most common reasons are androgen synthesis and resistance, choromosome abnormalities, testicular dysgenesis, steroid synthesis defects, it is usually idiopathic. The accurate and differential diagnosis is crucial in respect of treatment, monitoring, sex determination, surgical correction. Moreover, it sometimes can be medica...

hrp0084p3-805 | DSD | ESPE2015

Patient with Primary Amenorrhea and Glomerular Nephropathy

Santini Sara , Phan-Hug Franziska , Xu Cheng , Lamine Faiza , Moser Nicolas , Surbone Anna , Mathevet Patrice , Lhermitte Benoit , Achtari Chahin , Pitteloud Nelly

Background: Primary amenorrhoea is a rare condition characterised by absent menarche. Based on gonadotropin levels, we distinguish hyper from hypogonadotropic hypogonadism forms.Objective and hypotheses: Herein, we present a case of primary amenorrhea with hypergonadotropic hypogonadism and glomerulopathy.Method: A 27-year-old female presented for evaluation of primary amenorrhea and incomplete pubertal development. Her past medica...

hrp0084p3-806 | DSD | ESPE2015

The Advent of Disorders of Sexual Differentiation Team at a Major Teaching Nigeria: Impact on Patient Management and Outcome

Jarrett Olumide , Lawal Taiwo , Esan Oluyomi , Sofoluwe Adenike , Olayemi Oladapo

Background: Disorders of sexual differentiation (DSD) constitute a great challenge in patient management especially in a low resource settings with inadequate manpower in various specialities, as it involves critical reasoning, careful evaluation, multidisciplinary involvement and making difficult decisions such as rearing sex and gender issues.Aim: To highlight the importance of forming a DSD team in the management of these children and to document our ...

hrp0084p3-807 | DSD | ESPE2015

An Interesting Case of a Phenotypic Female with a 46,XY Karyotype, Uterus and Menstruation

Yau Mabel , Khattab Ahmed , New Maria

Background: This is a case of an 18 year old phenotypic female of Bolivian origin with a 46,XY karyotype, uterus and menstruation with estrogen replacement. She was initially diagnosed with androgen insensitivity based on Leuprolide and HCG stimulation testing results. With menstruation, other etiologies are being considered.Case presentation: She presented with clitoromegaly and moderate posterior labial fusion (Prader III). Laboratory evaluation at 6&#...

hrp0084p3-808 | DSD | ESPE2015

Characteristic of Children with Mixed Gonadal Dysgenesis

Akulevich Natallia , Makarava Yulia , Khmara Irina , Solntseva Anzhalika

Background: Mixed gonadal dysgenesis (MGD) is a DSD with variations of 45,X/46,XY caryotype and different phenotype.Objective and hypotheses: To describe the features of six patients (three raised as boys and three as girls).Method: The mean patients’ age at the time of the report is 11.7±4.0 years old. Molecular diagnosis was made in utero and confirmed after birth in two boys (for maternal age and because one mother had...

hrp0084p3-809 | DSD | ESPE2015

A 19-Year-Old Adolescent with Short Stature and Scrotal Tumour

Heldt Katrin , L'Allemand Dagmar , Waibel Peter

Introduction: Primordial short stature can have many different causes. In addition to maternal factors (e.g. placental insufficiency), genetic or skeletal disorders may be found in the child. It is important to identify the underlying aetiology in time, since not only the risk of diabetes is increased, but also the prevalence of insufficient gonadal function and malignancy, e.g. in mixed gonadal dysgenesis (MGD).Case report: A 19 year old adolescent pres...

hrp0084p3-810 | DSD | ESPE2015

An Atypical Case of Mayer-Rokitansky-Kuster-Hauser Syndrome with Hyperandrogenemia

Ustyol Ala , Atabek Mehmet Emre

Background: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in patients with a normal female phenotype and 46, XX karyotype. Various anomalies may accompany MRKH. The number of cases with accompanying hyperandrogenemia is limited.Case presentation: We describe a combination of Mullerian agenesis and hyperandrogenemia (total testosterone level 0.85 ng/ml) in a patient presenting with primary amenorrhea and mild hir...