Previous issue | Volume 94 | ESPE2021

59th Annual ESPE (ESPE 2021 Online)

Online,
22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

ePoster Category 2

Sex differentiation, gonads and gynaecology or sex endocrinology

hrp0094p2-394 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

SRY negative 46XX male syndrome: case report

Zhang Jun , Ma Huamei , Chen Qiuli , Guo Song ,

Objective: To study the clinical characteristics of 46XX male syndrome case with negative SRYMethods: To summarize the characteristics of one case of SRY negative 46XX male syndromeResults: a 12-year-old boy came to our clinic for "breast development for one year". At the age of 1 year old, karyotype was done with the result of 46XX for hypospadias (penile-scrotal type). At...

hrp0094p2-395 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Cognitive function and linear growth in Prednisone-treated children with salt-wasting congenital adrenal hyperplasia

Elsayed Shaymaa , Soliman Ashraf , Omar Tarek , Ibrahim Sandra , Elawwa Ahmed ,

Introduction: Congenital adrenal hyperplasia (CAH) is a disorder with a wide spectrum of severity. Impaired cognition has been reported in patients with CAH, although the findings have been conflicting. It has been hypothesized that the major causes of the deficits are prenatal hormonal imbalances and/or excessive glucocorticoid treatment.Objective: The objective of this study was to investigate cognitive function in chi...

hrp0094p2-396 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Combining big data science with clinics: Novel approach for understanding human sex development and its variants.

Rodriguez Gutierrez Daniel , Sproll Patrick , Von der Decken Isabel , Stevenson Brian , Lang-Muritano Mariarosaria , Konrad Daniel , L’Allemand Dagmar , Nef Serge , Biason-Lauber Anna ,

Background/Introduction: Whole exome sequencing (WES) revolutionized clinical genetics in patients with differences of sex development (DSD). However, our ability to interpret WES data is limited by our incomplete understanding of the mechanisms involved in DSD. Thus, we created a methodology that scores potential candidates based on single cells transcriptomics of human male gonadal cells and applied it to WES data from a cohort of genetically male (46,XY) DS...

hrp0094p2-397 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Vascular dysfunction and increased cardiovascular risk in hypospadias

Lucas-Herald Angela K , C Montezano Augusto , Alves-Lopes Rheure , Haddow Laura , Alimussina Malika , O’Toole Stuart , Flett Martyn , Lee Boma , Basith Amjad S , Steven Mairi , Brooksbank Katriona , McCallum Linsay , Delles Christian , Padmanabhan Sandosh , Faisal Ahmed S , Touyz Rhian ,

Background: Hypogonadism has been associated with cardiovascular disease. However, little is known about the cardiovascular impact of hypogonadism during development. Using hypospadias as a surrogate of hypogonadism, we investigated whether hypospadias is associated with vascular dysfunction during childhood and whether it is a risk factor for adult cardiovascular disease.Methods: Our human study spanned molecular mechan...

hrp0094p2-398 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Evaluation of genomic copy number variations in the etiology of syndromic patients with diferences of sex development (DSD)

Antonio Diniz Faria Junior Jose , R. Moraes Daniela , L. Batista Rafael , Gomes Lisboa Natalia , D. Kulikowski Leslie , Y Nishi Miriam , B Mendonca Berenice , Domenice Sorahia ,

Differences of sex development (DSD) occurs when the development of chromosomal sex, gonadal or internal/external genitalia is atypical. It has an incidence of 1: 1000-4500 live born children. New chromosomal array technologies (SNP-array) can analyze the genome of the individual providing information of copy number variation (CNV) of specific chromosomal regions helping to identified pathogenic variants that could explain the etiology of the DSD. This study aims to analyze th...

hrp0094p2-399 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Self-reported Feelings of Adult Patients with Differences of Sex Development (DSD) Regarding Genital Surgical Procedures

Lousada Lia , Domenice Sorahia , MF Costa Elaine , ASS Bachega Tania , Madureira Guiomar , Inacio Marlene , Helena P Sircili Maria , T Denes Francisco , Mendonca Berenice B ,

Introduction: DSD patients present varied degrees of atypical genitalia. The social sex assignment and the surgery decisions must be proceeded by a multidisciplinary team approach with the family. Surgeries should be only performed by experienced surgeons. The current trend is the early correction, but some patients and non-governmental entities argue that the surgeries should be delayed until the patient’s consent.Objective...

hrp0094p2-400 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Peripheral Precocious Puberty in girls affected by McCune-Albright Syndrome: safety and efficacy retrospective study on letrozole treatment

Tessaris Daniele , Gazzin Andrea , Bonino Elisa , Tuli Gerdi , Matarazzo Patrizia , de Sanctis Luisa ,

Introduction: Precocious Peripheral Puberty (PPP) due to autonomous ovarian activation is the most frequent endocrinopathy in girls with McCune-Albright Syndrome (MAS). Main goals of treatment for PPP are to reduce signs of estrogen exposure, also improving final height, and mitigate secondary psychological influence of sexual hormones exposure. This retrospective study analyzes the long-term safety and efficacy of letrozole treatment in a cohort of girls with...

hrp0094p2-401 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Two sisters with primary hypergonadotrophic hypogonadism, pubertal progress and deletion of 61.5MB of Χq21.33q28 region

Dikaiakou Eirini , Vlachopapadopoulou Elpis Athina , Papoulidis Ioannis , Manolakos Emannouil , Vakaki Marina , Michalacos Stefanos

Objective: To present the novel finding of hypergonadotropic hypogonadism, pubertal progress and molecular alterations in two sisters with variable phenotype.Case Presentation: Two Greek sisters were investigated. The eldest was referred for investigation of short stature, at the age of 9 and 5/12 years. There was no positive family history for short stature. Physical examination revealed no dysmorphic features, and she was prepubertal according to Tanne...

hrp0094p2-402 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Description of a new variant in the MAMLD1 gene in an infant with microphallus and hypospadias

Riera Cristina Aguilar , Tutaya Egusquiza Dellanira Pamela , Canestrino Gennaro , Fernández Paula , Camats Núria , Clemente María , Yeste Diego

Introduction: The MAMLD1 gene is expressed in fetal and adult testes. It contributes to the development and formation of the male external genitalia in late stages of fetal organogenesis (week 8-12) and to testosterone biosynthesis. The pathogenic genetic variants of this gene determine a significant reduction in plasma testosterone concentrations, although they are not undetectable. Its most common phenotypic manifestation is hypospadias, also described in patients with micro...

hrp0094p2-403 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Surgical aspects of the multicentric and interdisciplinary study in minors with different sexual development

Nerea Gonzalez-Temprano , Villalón Flor , Cancela Vanesa , Nuñez Francisco Javier , Hernandez Jone Miren , Diez-Lopez Ignacio

After the evident socio-health transformation when facing intersexualities / entities with different sexual development (DSD), we wonder if clinical-care assistance has improved. Material and method Descriptive multicenter study by means of a retrospective review (2006-2019) of patients with a diagnosis of DSD in pediatric age. Interdisciplinary assessment through satisfaction surveys to families / patients.Results: 67 patients were included. 27% were op...

hrp0094p2-404 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Is inflammation the major driver of polycystic ovary syndrome (PCOS)? A proteomic approach to understanding PCOS in adolescents and the search for novel non-invasive biomarkers

Harriet Gunn/ , Hällqvist Jenny , Doykov Ivan , Steinbeck Katharine , Mills Kevin

Background and Methods: PCOS is common and associated with significant comorbidity. However, its pathogenesis is complex and poorly understood. We have developed new methods for deep phenotyping discovery proteomic profiling of urine, aiming to identify disease mechanisms, drug targets and novel non-invasive biomarkers for PCOS in adolescents. Here, we present the baseline proteomic data from our prospective, longitudinal study (n=40). We undertook proteomic analysis ...

hrp0094p2-405 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Serum high mobility group box 1 (HMGB1) levels are independently associated with glucose clamp-derived measures of insulin resistance in PCOS

Catellani Cecilia , Migazzi Matteo , Sartori Chiara , Dauriz Marco , Righi Beatrice , Cirillo Francesca , Villani Michela , Tosi Flavia , Moghetti Paolo , Street Maria Elisabeth

Polycystic Ovary Syndrome (PCOS) is one of the most common endocrine disorders among women of reproductive age, and is characterised by chronic inflammation and in most cases by insulin resistance besides ovulatory dysfunction and hyperandrogenism. HMGB1 is a small protein with cytokine activity that can activate nuclear factor kappa light chain enhancer of activated B cells (Nf-kB), and signals through the Receptor for advanced glycation end products (RAGEs) and through the T...

hrp0094p2-406 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

ZSWIM7 is associated with human female meiosis and familial primary ovarian insufficiency

McGlacken-Byrne Sinéad M , Le Quesne Stabej Polona , Del Valle Torres Ignacio , Ocaka Louise , Gagunashvili Andrey , Crespo Berta , Moreno Nadjeda , James Chela , Bacchelli Chiara , Dattani Mehul , Williams Hywel J , Kelberman Dan , Achermann John C , Conway Gerard S

Background: Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. In approximately 10% of cases, POI presents early with absent puberty or primary amenorrhoea. A genetic cause for POI can be found in up to 30% of women. Identified genes often relate to the complex biological processes occurring in fetal life which underpin normal ovary development and function in later adulthood.Objective: We aim...

hrp0094p2-407 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Is the recommended dual therapy for transsexual boys harmless?

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

Objective: To study the impact of dual therapy on BMD and Inhibin B in a group of transsexual male adolescents who initiate treatment with advanced pubertal development.Patients and methodology: Retrospective study of 16 male minors who initiated treatment (Triptorelin and later Testosterone) with complete pubertal development. Variables included: age, weight and height at baseline and at the last visit (calculated in SDS for assigned age and sex), BMD i...

hrp0094p2-408 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Plexiform neurofibroma of the penis as an infrequent manifestation debut in a pediatric patient

Peña Fernanda , Martínez Alejandro , García Cristian , Dossi Teresa , Kolbach Marianne , Mellado Cecilia , Baquedano Paulina

Background: Neurofibromatosis type 1 (NF1) caused by loss of function mutation in the NF1 gene; leads to the hyperactivation of RAS and its downstream mediators and contributes to tumour formation. The main manifestations of NF1 are café au lait macule, axillary and/or inguinal freckling. Neurofibroma plexiform is specific for NF1 and identified on the face and trunk. Urogenital presentation is infrequent in the penis. Identification of this lesion is essential because it...

hrp0094p2-409 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Surprising X Chromosomes: Unusual Mosaicism

Zorkot Zeinab , Yatsenko Svetlana , Garibaldi Luigi , Witchel Selma

Background: Among 46,XY individuals, androgen insensitivity syndrome (AIS) due to deleterious variants of the androgen receptor (AR) gene is one cause for a difference of sexual development (DSD). Typically, individuals with complete androgen insensitivity syndrome (CAIS) present with female external genitalia and palpable labial masses. Whereas most patients carry germline variants inherited in an X-linked manner, approximately 30% of patients manifest de novo variants. We de...

hrp0094p2-410 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Puberty delay in girls: etiological structure of the disease

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

Objective: To analyze the structure of puberty delay in girls depending on the etiology of the disease.Materials and methods: 51 girls with puberty delay (14.2±0.82) were examined. Inclusion criteria: absence of secondary sex characteristics at 13; or absence of menarche by age 15 years or the absence of menarche during 3 years from the onset of estrogen-dependent puberty signs development. Exclusion criteria: age ≥18, аmbiguous genital...

hrp0094p2-411 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Rationale for a reduced dexamethasone dose in prenatal congenital adrenal hyperplasia therapy based on pharmacokinetic modelling

Neumann Uta , Stachanow Viktoria , Blankenstein Oliver , Fuhr Uwe , Huisinga Wilhelm , Reisch Nicole , Kloft Charlotte

Context: Prenatal dexamethasone (Dex) therapy is used in female foetuses with congenital adrenal hyperplasia (CAH) to suppress adrenal androgen excess and prevent virilisation of the external genitalia. The prenatal dexamethasone dose of 20 µg/kg/d has been used for decades in prenatal CAH. Despite the risks for the treated mother and potentially for the unborn child, no clinical study or evaluation had been conducted in order to determine a Dex dose with a scientific rat...

hrp0094p2-412 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

45,X/46,XY mosaicism: Phenotypic characteristics, growth, and gonadal features

Selveindran Nalini M , Wong Jeanne SL , Amin Arliena , Hong Janet YH

Introduction: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. The aim of this study is to provide outcomes, namely growth, comorbidities and gonadal function in patients with 45,X/46,XY mosaicism.Methods: This was a retrospective, longitudinal study conducted from January 2006 to January 2021 at a tertiary pediatric endocrine referral center. Patients' clinical presentation, karyotypes, height, hormonal profiles, imaging and histologic fi...

hrp0094p2-413 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Challenges faced by children and adolescents with Differences in Sex Development (DSD) managed at a tertiary care specialized university center in Sri Lanka

Jayakody Chamath , Seneviratne Sumudu

Introduction: DSDs encompass a heterogenous group of conditions associated with multiple medical and psychosocial challenges. There is a paucity of data from patients from relatively low resource settings, where difficulties faced and their management may differ based on the different socio-cultural background. Objectives: To describe the underlying condition, presentation, medico-social issues, problems and challenges, and their management in a cohort o...

hrp0094p2-414 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

A novel mutation of SOX2 gene in an idiopathic hypogonadotropic hypogonadism patient with olfactory bulb agenesis

Tang Yijun , Chen Yao , Feng Biyun , Li Qun , Wang Yirou , Li Xin , Chang Guoying , Li Juan , Ding Yu , Wang Jian , Wang Xiumin

Objective: To enhance the understanding of the clinical phenotypes of patients with SOX2 gene mutations.Method: A retrospectively analysis of the clinical manifestations and the laboratory results of a child diagnosed as idiopathic hypogonadotropic hypogonadism(IHH) by whole exome-gene sequencing and a review of relevant literatures.Results: A 12-year-old boy clinically manifested short stature, mental retardation, a histo...

hrp0094p2-415 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Obesity, ovarian mass, vaginal bleeding and hypothyroidism in a 5-year-old female girl

Alhemaidy Noora , Alaaraj Nada , Soliman Ashraf , Hamed Noor , Ahmed Shayma

Introduction: Van Wyk-Grumbach Syndrome (VWGS) is a constellation of symptoms including precocious puberty without adrenarche, delayed bone age, ovarian cysts, and hypothyroidism.Case report: We report here a five-year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding, and abdominal distention. Her HtSDS =-1.3 and BMI SDS =1.5. A large abdominal mass was palpable. She had no breast development or pubic hair. Her Inv...

hrp0094p2-416 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Ovarian Juvenile Granulosa Cell Tumor in 9-Month-Old female Infant presented with Isosexual Pseudo Puberty: Case Report

Ahmed Shayma , Soliman Ashraf , Alaaraj Nada , Alyafie Fawzia , Maadheed Maryam AL , Clelland Colin

Background: In infants, less than 1-year JGCT is extremely rare, with very few reported cases in the literature.Case Report: This 9-month old girl, presented with a day history of bloody vaginal secretions, with an increase in breast size bilaterally 2 months before presentation and growth of fine hair in the genital area. She had no skin hyperpigmentation, no skeletal abnormalities, and no dysmorphic features. On examination, the girl had no dysmorphic ...

hrp0094p2-417 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

A case report of Non-syndromic 46, XX testicular DSD presenting as a genital ambiguity - Clinical, molecular and cytogenetic analysis

Behera Kishore , behera Smruti , Sahoo Subrat

Background: To demonstrate the etiology of 46, XX sex reversal by investigating the clinical feature and its relationships with chromosomal karyotype and the SRY (sex-determining region Y) gene.Methods: A child with genital ambiguity with hypospadias and bifid scrotum consulted to our endocrine OPD for further management. Clinical data was noted, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) wer...

hrp0094p2-418 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

46 XX, SRY negative testicular DSD presenting with VACTERL Syndrome

Suntharesan Jananie , Gunasekara Budhi , Lakmini Chamila , De Silva Uamd , Navoda Atapattu

Introduction: Sex determining region Y (SRY gene) located in chromosome Yp11.3, initiate gonadal differentiation into testes, which subsequently leads to development of Wolffian duct, male external genitalia, and regression of Mullerian duct. Not only SRY, SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10 contribute for gonadal differentiation. Imbalance of expression of above genes in the absence of SRY leads to 46, XX testicular DSD. We describe a case of 46...

hrp0094p2-419 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

A late revelation of Sexual differentiation disorder 46XX due to 11 beta hydroxylase deficiency

Sabrina Khensal , Amina Bouhlassa , Chahinez Habi , Nassim Nouri

Introduction: Congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency, is an autosomal recessive pathology that represents 5 to 8% of congenital adrenal hyperplasia. The predominant symptoms of this disorder are androgen excess’ features, including masculinization of female newborns and precocious puberty in male children. Approximately, two thirds of patients also have hypertension, which may or may not be associated with mineralocorticoid excess, hypokale...

hrp0094p2-420 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Gonadal tumor risk, bone mineral density, and genetics, clinical, hormonal, and psychosexual aspects of a large androgen insensitivity syndrome cohort

Batista Rafael Loch , Ramos Raquel Martinez , Nishi Miriam , Dallago Renata , Elias Felipe , Rodrigues Andresa di Santi , Domenice Sorahia , Mendonca Berenice B

Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of Differences of Sexual Development (DSD) in 46, XY individuals. It is an X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12). Methods: Patients with clinical suspicion of AIS performed hormonal serum measurements (LH, FSH, estradiol, testosterone) and molecular sequencing of the AR gene, including exons and the 5’UTR region. Psychosexual variab...

hrp0094p2-421 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Radiological evaluation of children with atypical genitalia due to disorders of sex development (46, XY DSD) in a resource-limited setup

Khater Doaa , Raafat Shaymaa

Background: Disorders of sex development (DSD) comprises a heterogeneous group of conditions involving interference with normal sex differentiation and hormonal production in the embryo. Imaging is a very useful tool in assessing the patient’s phenotypic sex through identifying the internal genital anatomy and the adrenal glands. Ultrasonography is a cheap and readily available tool. MRI has disadvantage of being expensive with long waiting lists especially in developin...

hrp0094p2-422 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

17-hydroxylase deficiency and diabetes in a case with 46 XY female

Yildirim Ahmet , Zeytun Hikmet , Albayrak Serpil , Karaoğlan Murat , Keskin Mehmet

A 13-year-old patient was admitted due to delayed puberty. Ovary and uterus had not seen in USG and MRI. On physical examination; body weight: 57 kg (79 P), height 157.7 cm (45P), BMI: 22.9 (83P), TA: 120/80 mmHg. The patient was externally in female appearance and there was no puberty development. Labia minora was seen. The urethral and vaginal openings were in the vestibulum and bilateral gonads could not be palpated in the inguinal canal. Mother and father was cousin. Fathe...

hrp0094p2-423 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Diagnostic dilemma in a patient with central precocious puberty: Ovarian steroid cell tumor

Balki Hanife Gül , Ata Aysun , Karayazılı Ayşe Merve , Serin Gürdeniz , Koç Gonca , Özdemir Necmettin , Çelik Ahmet , Özen Samim , Gökşen Damla , Darcan Şükran

Ovarian steroid cell tumors (OSCT) are rare sex cord stromal tumors of the ovary and comprise <0.1% of all ovarian tumors. We herein report a case of an OSCT in a 9 year old girl patient who presented with central puberty preocious unresponsive to gonadotrophine relasing hormon analog (GnRH) therapy. A 9 year old girl presented with breast development noticed 4 months ago and menarche 3 months ago. Her height was 141,5 cm (+1,3 SDS), body weight was 35.4 kg (+0.9 SDS) and...

hrp0094p2-424 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Dimensional approach to gender dysphoria in nigeria: Association with socio-demographics and psycho-sexual variables

Chikani Ugo , Onu Justus , Shalewa Ugege

There is an exponential rise on the topic of Gender dysphoria (GD) on the internet, pubmed data, seminars and conferences. However, most of these discussions skewed toward the western populations. GD appears invisible or non -existence in Africa? Recently, GD has been conceptualized as a continuum of a bipolar disorder with varying degrees of dysphoric expression in between the poles. Hence, dimensional measure of assessment which is in keeping with nature’s experiences...

hrp0094p2-425 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Puberty delay in girls: Analyses of disease structure depending on clinical characteristics

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

Materials and methods: we included 51 girls with puberty delay (mean age 14.2±0.82 years) into the study. Inclusion criteria: no secondary sex characteristics by the age of 13 years; or no menstruation by age 15 years or no menarche during 3 years or more from the onset of estrogen-dependent signs of puberty development. Exclusion criteria: age 18 years or more, аmbiguous genitalia. According to clinical characteristics girls were divided into 3 g...

hrp0094p2-426 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Uterus agenesia in a patient with CATCH 22 Syndrome. Purpose of a case

Ignacio Diez-Lopez , Mesonero Saray , Maeso Sandra , Sarasua-Miranda Ainhoa

Introduction: The CATCH 22 syndrome or DiGeorge syndrome or velocardiofacial syndrome, is a frequent pathology with the worldwide prevalence estimated between 1 / 2,000 and 1 / 4,000 live births. The classic clinic is characterized by typical facial features (narrow palpebral fissures, bulbous nasal tip, small mouth and ears, malar hypoplasia) with functional insufficiency of the soft palate in about 75% of those affected, difficulties in learning, language and behavior , cong...

hrp0094p2-427 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

High throughput screening of DSD candidate genes with the help of the powerful model Drosophila melanogaster

von der Decken Isabel , Gutiérrez Daniel Rodríguez , Sotillos Sol , Castelli-Gair Hombria James , Sprecher Simon , Lauber Anna

Drosophila melanogaster as a study model has already significantly contributed to the understanding of the mechanisms of many human diseases. So far D. melanogaster has rarely been exploited as a model for human sex development. Nanda et.al already demonstrated in 2009 that the Drosophila orthologue of SOX9, Sox100B is essential for testis development in Drosophila. Similarly, we could demonstrate that the fly homolog of STARD8, cv-c</...

hrp0094p2-428 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Case series: Use of tamoxifen in the management of gynaecomastia in three adolescent boys with 46 XY DSD

Jayakody Chamath , Seneviratne Sumudu

Background: Management of gynaecomastia in adolescent males with Partial Androgen Insensitivity Syndrome (PAIS) remains a clinical conundrum. The main mode of treatment is mastectomy, while literature on pharmaceutical management is limited. This case series evaluates outcome of 3 children treated with tamoxifen. Case 1: A 16-year-old-boy with genetically confirmed PAIS, presented with bilateral gynaecomastia at 11 years of age. He had severe under-viril...

hrp0094p2-429 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

4-year-old female patient with mixed germ cell tumor and underlying Cowden syndrome

Habacht Daniela , Boztug Heidrun , Engstler Gernot , Kager Leo , Boztug Kaan , Pauer Sophie , Amann Gabriele , Zeitlhofer Petra , Riedl Stefan

Cowden syndrome (CS) is a cancer predisposition syndrome. The clinical hallmarks of CS are macrocephaly and mucocutaneous lesions. Several tumor types have been described, mostly malignancies of the breast, thyroid, endometrium, kidney and colorectum. The age of onset is extremely variable. So far, only two case reports of children with ovarian tumors in the context of CS have been published, a granulosa cell tumor of a 16-year-old girl (Smpokou et al. 2014) and a bilateral en...

hrp0094p2-430 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

A comparison between Androstanolone and Testosterone Enanthate for penile augmentation in patients with idiopathic micropenis

Karrou Marouan , Messaoudi Najoua , Assarrar imane , Rouf Siham , Latrech Hanane

Introduction: Micropenis is defined as an anatomically correct penis that is abnormally short due to a defect in testosterone secretion or action. The length of the stretched penis compared to reference tables such as the Schönefeld curve is the best diagnostic criterion. Size less than -2.5 Standard Deviations (SD) defines micropenis. When the etiological assessment of micropenis does not reveal any abnormality, the diagnosis of idiopathic micropenis is retained. Materi...

hrp0094p2-431 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Combination therapy of hypogonadotropic hypogonadism with rFSH and hCG – case report

Kokoreva Kristina , Latyshev Oleg , Okminyan Goar , Kiseleva Elena , Samsonova Lyubov , Kasatkina Elvira , Brzhezinskaia Lyubov

Objective: assess advantages and disadvantages of the treatment of hypogonadotropic hypogonadism (HH) with rFSH and hCG.Materials: We report the case of а 16-year old patient with complaints of no development of secondary sexual characteristics. Patient was 174 cm (SDS growth 0.25 SD, SDS growth velocity 1.62 SD, SDS BMI -0.4 SD, target height correction 1.01 SD) with Tanner G1 P1 (penis length was 5 cm). Laboratory studies included LH < 0.1 m...

hrp0094p2-432 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

46,XY DSD due to biallelic DHX37 gene mutations

Eltan Mehmet , Helvacioglu Didem , Ates Esra Arslan , Abali Zehra Yavas , Turan Serap , Bereket Abdullah , Guran Tulay

Background: DEAH-box protein DHX37, encodes an RNA helicase, is involved in ribosome biogenesis. Monoallelic mutations in DHX37 gene have recently been identified in 46,XY differences/disorders of sex development (DSD) patients with nonsyndromic gonadal dysgenesis as well as testicular regression, while biallelic mutations have been associated with microcephaly and structural brain abnormalities. Here, we present a patient with penoscrotal hypospadias and bil...

hrp0094p2-433 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Novel mutation in an iranian family with 17-β hydroxysteroid dehydrogenase type 3 deficiency

Saffari Fatemeh , Homaei Ali

We report a large family with several cases of 46 XY and a new mutation in the 17-β-HSD3 gene.The proposita was an 11-year-old girl and the first child of a consanguineous family. She was born by cesarean section with a height of 52 cm and a weight of 4200 grams. The external genitalia were completely female and had a short vaginal pouch. She had palpable gonads in her inguinal area and underwent bilateral gonadectomy at the age of two. Other physical examinations were n...

hrp0094p2-434 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

A case of gender developmental disorder with difficulty in molecular diagnosis: New variant in NR5A1 gene

Arslan Emrullah , Solmaz Aslı Ece , Aykut Ayca , Durmaz Asude , Atik Tahir , Goksen Damla , Ulman Ibrahim , Ozbaran Burcu , Ozen Samim , Darcan Sukran

"Steroidogenic Factor-1" (SF-1); It is encoded by the NR5A1 gene in 9q 33.3 and regulates the transcription of genes involved in steroidogenesis. It is reported that 46 of the variants in this gene constitute 10-20% of XY sex development disorders (DSD). The patient admitted because of a swelling in the left groin at one month old. She was raised as female. Uterus was 12x2.5 mm in ultrasonography and the gonad in the inguinal region was evaluated as testis. She was P...

hrp0094p2-435 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Two pedigrees with congenital bilateral anorchia in one sibling and testicular torsion at adolescence in another: a shared genetic predisposition?

Brachet Cécile , Chiniara Lyne , Vliet Guy Van

Background: In bilateral anorchia or vanishing testes syndrome, testicular function is normal during the embryonic period, as shown by the absence of Müllerian remnants and of hypospadias. Although normally differentiated, the penis may be small due to decreased testosterone secretion during the fetal period. In a normally virilised boy with non-palpable testes, with or without micropenis, the diagnosis is established by undetectable plasma anti-Müllerian hormone (AM...

hrp0094p2-436 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Importance of testicular biopsy for validation of diagnosis; cryptorchidism, analyzing prescrotal undescended testes

Hadziselimovic Faruk

Background: The hallmark of successful treatment of cryptorchid boys is fertility. However, reported incidences of normal spermiograms for unilateral cryptorchid patients range from 83% to 22%.Aim of the study: Because, cryptorchid testis has always abnormal histology, performing testicular biopsy it is possible to differentiate between cryptorchid and a normal testicular histology thus validating obtained clinical diagnosis. We hypothesize that in a poo...

hrp0094p2-437 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Rare genetic disorder associated with microphallus

Khan Khalid

Term male baby delivered by elctive c- section.On examination found to IUGR, hypotonic and microphallus less then 2 cms (stretched).Both testis were palpable. No other dysmorphic features noticed. Cranial ultrasound showed sub-ependymal cysts in the frontal region. Parents were concerned regarding his small penis. He was referred to physiotherapy for his low tone and had genetic and metabolic work up done for his persistent low tone. The testosterone levels were found to be lo...

hrp0094p2-438 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Congenital adrenal hyperplasia in detail: A multicentric and interdisciplinary study in minors with different sexual development

Ignacio Diez-Lopez , Nerea Gonzalez-Temprano , Villalon Flor , Larreina de la Fuente Leire , Cancela Vanesa , Nuñez Francisco Javier , Hernandez Jone Miren

Of the 67 included DSD patients, 33% were HSCs. 68% women and 32% men, with a total concordance between legal sex, current gender and chromosomal sex. Median age: 10.5 years, IQR 8-14. The most frequent clinical form was non-classical (NC) 45.5%, followed by classical with saline loss (CPS) 41%. The distribution of each clinical form according to the karyotype is significant (P = 0.013), the most frequent with XY karyotype is CPS and in NC forms all cases are XX. Med...

hrp0094p2-439 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Sex assignment at birth: is it always easy?

Karrou Marouan , Assaarrar Imane , Messaoudi Najoua , Derbel Salma , Rouf Siham , Latrech Hanane

Introduction: Disorders of sex development (DSD) are a group of congenital disorders in which the development of chromosomal, gonadal, and anatomical sex is atypical and disharmonious. These DSD may constitute a medical emergency (a salt-wasting syndrome in congenital adrenal hyperplasia) or a social emergency due to the parents’ anxiety generated by the difficulty of assigning the child's sex at birth. Providing urgent and adapted care defining the sexual orientat...

hrp0094p2-440 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Combination therapy of hypogonadotropic hypogonadism in boys with rFSH and hCG – case reports analyses

Kokoreva Kristina , Latyshev Oleg , Samsonova Lyubov , Kiseleva Elena , Okminyan Goar , Kasatkina Elvira , Brzhezinskaia Lyubov

Objective: to evaluate combination replacement therapy (CRT) with rFSH and hCG of hypogonadotropic hypogonadism (HH) in boys appropriateness and effectiveness.Materials: 1 boy with isolated HH (№1) and 2 boys (№2,3) with HH caused by hypopituitarism (HP) included. Antropometric data, Тanner; testosterone (T), LH, FSH, inhibin B, anti-Mullerian hormone (AMH), testicular volumes (TV), bone age (BA) evaluated in all patients. GnRH agonis...

hrp0094p2-441 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Clinical case of premature ovarian failure in combination with blepharophimosis-ptosis-epicanthus inversus due to mutation in FOXL2 gene

Enikeeva Sofia , Kolodkina Anna , Tihonovich Julia

Clinical Case Description: Patient, 14 years 6 months old, complained of irregular menstrual cycle. On clinical examination, sexual development was Tanner 4, Me at 13 years old, the girl had 3 menses, with a last delay up to 8 months. Single terminal hairs along the white line of the abdomen, areola. The patient had epicanthus and narrowed eye slits of different sizes. She was operated on for congenital blepharophimosis in infancy. No one has similar problem...

hrp0094p2-442 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia

Vlachopapadopoulou Elpis-Athina , Fotiadou Anatoli , Picard Jean-Yves , Achilleos Orthodoxos , Lamprinou Zoe , Tzortzopoulou Adelais , Passalidis Alexandros , Michalacos Stephanos

Background: Persistent Müllerian duct syndrome (PMDS) is a Disorder of Sex Development (DSD) caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its type II receptor (AMHR2) with autosomal recessive transmission. Objective: To report a case of transverse testicular ectopia (TTE), associated with PMDS, initially presented as an obstructed inguinal hernia.Case presentation: An 18- days- old male infant, wi...

hrp0094p2-443 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

5 alpha-reductase type 2 deficiency: A case report

Karrou Marouan , Tahri Abir , Assarrar Imane , Messaoudi Najoua , Rami Imane , Rouf Siham , Latrech Hanane

Introduction: In medical practice, sex assignment at birth depends primarily on the appearance of the external genitalia, which development begins as early as the fetal period and is largely dependent on dihydrotestosterone (DHT). Any discordance between the chromosomal, gonadal or anatomical sexes can lead to a disorder of sex development (DSD). 5 alpha-reductase 2 (5aRD2) deficiency is a very uncommon autosomal recessive genetic disorder that falls into the DSD 46 XY group, ...

hrp0094p2-444 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

An unexplained cause of unilateral gynecomastia in a 3-year-old boy

Hashim Raihana , Gunatilake Sonali

Background: Pre-pubertal gynecomastia is characterized by the presence of palpable breast tissue in boys in the absence of signs of sexual maturation. Gynecomastia is common in normal males in the neonatal period, at early puberty, and with increasing age and pre-pubertal gynecomastia is a rare condition and can be associated with excessive aromatase activity or oestrogen-producing adrenal or testicular tumours.Case Presentation: A 3-year-old presented w...

hrp0094p2-445 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Could intramuscular testosterone differentiate between partial androgen insensitivity and 5 alpha reductase type 2 deficiency?

Raafat Shaymaa , Waheeb Saber

Introduction: Disorders of sex development are challenging conditions for patients, parents and the interdisciplinary health care team. Sex assignment of these patients needs optimal hormonal profile and molecular diagnosis. This study aimed at finding a new tool for differentiation between partial androgen insensitivity and 5 alpha reductase deficiency especially when the molecular diagnosis is unavailable or highly expensive if available.Methods and Su...