Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

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The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands

Poster Category 2

Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

hrp0097p2-40 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Mass of the inguinal region, from casual finding to genetic diagnosis

Ángeles Santos Mata María , Pacheco Carrillo Aitana , Fernández Viseras Irene , Ruiz Ocaña Pablo

The SRD5A2 gene (MIM607306) codes for the type 2 5α-reductase enzyme that catalyzes the conversion of testosterone to its active metabolite, dihydrotestosterone (DHT), essential for the development of the male external genitalia. Pathogenic variants in homozygosis or compound heterozygosis may be responsible for a 46XY Disorder of Sex Development.Case: A 5-year-old girl who was referred to us after the mother noticed lumps on both ...

hrp0097p2-41 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

5α-Reductase Type 2 Deficiency over three decades in a single center

Vicinanza Alfredo , Heinrichs Claudine , Ulgiati Fiorenza , Lambotte Isabelle , Boros Emese , Brachet Cécile

Female phenotype and sex reversal are often reported in 46,XY patients with 5α-Reductase Type 2 Deficiency (5αRD2). In case of late diagnosis, at puberty, virilization occurs. Over the years, sex assignment in case of early diagnosis evolved from female to male. We report four cases of 5αRD2, managed differently over three decades. All children presented with a female phenotype (EGS 3-4), palpable gonads, absent uterus, and 46,XY karyotype. All patients were ...

hrp0097p2-43 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Persistent Müllerian duct syndrome and the identification of a yet unreported homozygous mutation in AMHR2 gene

Cima Luminita-Nicoleta , Oprescu Raluca , Zubaci Ana , Tarna Mihaela , Iliescu Marina , Dumitrache Sabina , Grosu Iustina , Draghici Isabela , Chirita-Emandi Adela , Puiu Maria , Gabriela Barbu Carmen , Viorica Popescu Mihaela , Fica Simona

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. PMDS is caused by mutations in the genes coding anti-Müllerian hormone (AMH, PMDS type 1) or the AMH receptor (AMHR2 gene, PMDS type 2) and it usually presents as undescended testes (cryptorchidism) or inguinal hernia...

hrp0097p2-44 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

New variant in DHX37 associated to 46,XY gonadal dysgenesis

Dominguez-Riscart Jesus , Garcia-Zarzuela Ana , Arellano-Ruiz Paola , Benito-Sanz Sara , Delgado-Cotan Lourdes , Maria Lechuga-Sancho Alfonso

Introduction: 46,XY gonadal dysgenesis (GD) represents a heterogeneous group of disorders/differences of sex development (DSD) characterized by abnormal gonadal development leading to a wide phenotypic spectrum. Variable degrees of external genitalia undervirilization are observed, ranging from micropenis to female-like genitalia and partially or fully-developed Mullerian derivatives.Case Report: A 6 years-old boy follow...

hrp0097p2-49 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Case series: WT 1 mutation- an important differential in 46, XY disorders of sexual development (DSD)

Jebaseeli Hoole Thabitha , Siriwardne Dinendra , Naotunna Chamidri , Jayasundara Imalka , Atapattu Navoda

The Wilms' Tumour (WT1) gene is thought to play an important role in nephrogenesis, genitourinary development, and sex determination. We report three cases followed up in a tertiary care center in Sri Lanka. All three patients were referred for evaluation of ambiguous genitalia (stretched penile length <= 2cm, penoscrotal hypospadiasis in all three patients. Patient one had bilateral palpable testes in inguinal canal. Patients two and three did not have any palpable te...

hrp0097p2-50 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A Rare Diagnosis in a Virilized Adolescent with a 46,XX Karyotype: Gonadoblastoma with Dysgerminoma

Kandemir Tugce , Karakilic Ozturan Esin , Dural Ozlem , Aslanger Ayca , Inan Balci Elif , Bayram Aysel , Onder Semen , Yildiz Melek , Poyrazoglu Sukran , Darendeliler Feyza , Bas Firdevs

Key words: Dysgerminoma, gonadoblastoma, virilizationIntroduction: Gonadoblastoma is a rare ovarian tumor composed of sex cord cells and primitive germ cells. Although it is frequently seen in patients with 46,XY gonadal dysgenesis, it is also rarely seen in patients with a 46,XX karyotype. Here, we report a girl with a 46,XX karyotype presenting due to an uncommon cause of virilization, which was caused by bilateral gon...

hrp0097p2-96 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes

Yoon Ji-Hee , Lee Nae-Yun , Hye Kim Ja , Hwang Soojin , Kim Gu-Hwan , Yoo Han-Wook , Choi Jin-Ho

Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgen because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center.Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endoc...

hrp0097p2-97 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Single Center Experience in Patients with Mixed Gonadal Dysgenesis

Barsal Çetiner Ebru , Donbaloğlu Zeynep , Singin Berna , Aydın Behram Bilge , Karagüzel Güngör , Tuhan Hale , Parlak Mesut

Objective: Mixed gonadal dysgenesis (MGD) (45,X,46,XY mosaicism) is a rare chromosomal disorders of sexual development (DSD). In this article, single center data were evaluated.Material Method: From the files of ten patients followed up with the diagnosis of mixed gonadal dysgenesis, complaints and physical examination findings, laboratory tests, chromosome analysis, FISH results, ultrasound, laparoscopy, pathology repor...

hrp0097p2-98 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Novel genetic variant in NR5A1 (SF1) gene with clinical presentation of Hypergonadotropic hypogonadism

Sredkova-Ruskova Maria , Andonova Silvia , Ruskov Todor , Veleva Tsvetina , Delchev Trayan , Savov Alexey , Avdjieva-Tzavella Daniela

Background/Objectives: Hypergonadotropic hypogonadism (HH) is characterised by primary gonadal failure with excess of pituitary gonadotropin secretion. The causes can be congenital or acquired. Herein, we report a case of a 10-years-old-boy with obesity, development of HH during follow-up and a novel genetic variant in NR5A1 (SF1) gene with de novo origin.Methods: The child presented with obesity (started at the age of 5...

hrp0097p2-99 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Three cases of Leydig cell tumor with different clinical presentation

Hidalgo Coronado Lorena , Rampi Gabriela , Brunetto Oscar , Hernandez Claudia

Leydig cell tumors(LCTs) are rare testicular tumors, representing 1-3% of them. They are usually unilateral but can be bilateral up to 3%. Its incidence is bimodal, peaking at 5-10 years (20%) and 25-35 year (80%). Malignant transformation has not been clearly proven in children, whereas in adults they are malignant in 10% of cases. The main clinical manifestation is a palpable, painless testicular mass associated in a variable percentage with endocrinological manifestations t...

hrp0097p2-100 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Diverse Phenotypes of Three Cases of Partial Androgen Insensitivity Syndrome with Androgen Receptor Gene Variants

Aoyama Kohei , Oyachi Maki , Yoshida Aya , Yamaguchi Naoya , Suzuki Atsushi , Mizuno Haruo , Saitoh Shinji

Background: Partial Androgen Insensitivity Syndrome (PAIS) is characterized by varying degrees of masculinization defects due to impaired androgen action, resulting in a wide range of physical and psychological phenotypes.Case 1: 18-year-old with a male social gender. The patient presented with hypospadias, micropenis, and cryptorchidism during the neonatal period, and received testosterone therapy during infancy, but sh...

hrp0097p2-101 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Change in timbre of voice as one of the signs of hyperandrogenism in a 11-year-old girl- a case report

Sawicka Beata , Szarras-Czapnik Maria , Borysewicz-Sanczyk Hanna , Michalak Justyna , Stozek Karolina , Bossowski Artur

Background: Partial gonadal dysgenesis with a 46,XY karyotype (46,XY PGD) is a disorder of sex development (DSD) associated with abnormal development of the gonads. It is characterized by abnormally developed external genitalia with or without Mullerian structures. The degree of abnormality varies from a female phenotype with clitoral hyperplasia to a male phenotype with isolated hypospadias. The incidence is unknown. In 20-30% of patients, gonadoblastoma or i...

hrp0097p2-102 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Ovotesticular Disorder of Sexual Development Diagnosed in Adolescence – a Twins Case Report

Coelho Isabel , Soto-Maior Costa Maria , Kay Teresa , Patena Forte Joana , Cardoso Dinorah , Lopes Lurdes , Galhardo ulia

Introduction: Individuals with ovotesticular disorders of sexual development (OT-DSD) have both seminiferous tubules and ovarian follicles. The combination of gonads could be separated (ovary-testis), unilateral (ovotestis-ovary or ovotestis-testis), or bilateral (ovotestis-ovotestis). The last one is the rarest variant (24.5%). In 60% of cases, the karyotype is 46, XX.Case Report: 15-year-old, monochorionic-monoamniotic...

hrp0097p2-103 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Clitoromegaly as a manifestation of neurofibromatosis type 1

Faviero de Vasconcellos Natália , Reis Krämmer Bárbara , da Costa Rodrigues Ticiana , Antônio Czepielewski Mauro , Guaragna Filho Guilherme , Cristina Pedroso de Paula Leila

Background: Clitoromegaly usually is a sign of virilization, and should lead to prompt evaluation in order to allow adequate treatment. Neurofibromatosis (NF) is a syndrome characterized by pigmentary changes, development of benign tumors of peripheral nerve and increased risk of other malignant tumors.Clinical Case: A five year old female patient was referred to the pediatric clinic of Hospital de Clínicas de Por...

hrp0097p2-104 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Gender dysphoria, social transition, mental health and metabolites of cortisol among transgender and gender non-conforming youth in one of Polish hospitals.

Jakubowski Tomasz , Gawlik Aneta , Antosz Aleksandra , Chmiel-Aleksandrowicz Iga , Gawlik Jakub , Nowak Zuzanna

Introduction: In the body of available literature, the information on the relationship between the level of gender dysphoria (GD), social transition and mental health and hormone levels is scant.Methods: The data has been obtained from medical records of 120 transgender and gender non-conforming (TG/GNC) young patients of the pediatric and endocrinological ward of the Upper Silesian Center of Youth’s Health in Kato...

hrp0097p2-105 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Self-perception of voice in trans girls adolescents depends on pubertal stage blockage.

Domínguez-Riscart Jesus , Larran-Escandon Laura , Baez-Castillo Celia , Triviño-Garcia Adrian , Mateo-Gavira Isabel , De Mier-Morales Miguel

Introduction: A transgender individual’s voice may contribute to the negative psychosocial outcomes. Some studies have shown that an incongruence between one’s voice and internal gender identity can be a potential source of ongoing psychological distress and could impact on their social interactions, employment outcomes, and invite verbal or physical harassment. This study was aimed to examine whether early puberal blockage (PB) impacts on self per...

hrp0097p2-106 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Evaluation of trends and care of transgender young assisted in a reference unit.

Dominguez-Riscart Jesus , Crespo-Delgado Angela , Mateo-Gavira Isabel , Baez-Castillo Celia , Larran-Escando Laura

Introduction: Transgender people and the gender transition process requires a series of processes with psychosocial, legal and physical implications. In our community, with the establishment of the care plan for trans youth, reference units were created in 2015. We had an interest to analyze the different epidemiological variables and the type of care demand of this population cared for in our unit.Methodology: An observ...

hrp0097p2-114 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Tailored daily transdermal testosterone treatment before hypospadias surgical repairing: preliminary data of a single center study

Lucaccioni Laura , Insalaco Anna , Vandelli Sara , Ghidini Filippo , Trevisani Viola , F. Madeo Simona , Luca Ceccarelli Pier , Iughetti Lorenzo

Background: Hypospadias is one of the most common congenital anomalies in males. Surgical repairing aims to improve the aesthetic and functional outcome. The success rate of hypospadias repairing is variable according to the severity of the malformation with a complication rate(CR) of almost 60% in proximal forms. Testosterone treatment before surgery is still controversial and its impact on surgical outcomes, and the best regimen for administration, is unclea...

hrp0097p2-150 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

46,XY disorders of sex development associated with MAP3K1variants: Case and review of the literature.

Koçyiğit Esra , Hürmüzlü Gözler Selen , Gürpınar Gözde , Kilci Fatih , Mine Çizmecioğlu Jones Filiz

The genetic causes of 46, XY disorders of sex development (DSD) are mostly unknown, having been identified in only 20-35%. Mitogen-activated protein kinase 1, part of the MAPK signaling pathway, which controls testicular development, is one of the etiological genetic pathways. Here, we present a case of 46, XY DSD with heterozygous MAP3K1 variant. A 6-month-old baby was referred to pediatric endocrinology because of ambiguous genitalia. They were born by C-section at 28 weeks ...

hrp0097p2-158 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A case of male pseudoermaphroditism (46,XY DSD) in an adolescent with a novel de novo NR5A1 gene variant.

Kostopoulou Eirini , Samkinidou Efstratia , Sertedaki Amalia , Efthymiadou Alexandra , Giannakopoulos Aristeidis , Hyun Seong-In , Lee Hane , Hun Seo Go , Chrysis Dionisios

Introduction-Purpose: In addition to chromosomal abnormalities, a number of genes have been implicated as causes of Disorders of Sexual Development (DSD). The NR5A1 (SF-1) gene expresses a transcription factor that plays a role in steroidogenesis by controlling multiple stages of adrenal and gonadal development, and its mutations have been reported in cases of DSD.Case presentation: A 152/12-year-old teenager ...

hrp0097p2-166 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Value of antimullerian hormone (AMH) in the diagnosis of precocious puberty: revaluation of the covid-19 post-pandemic cohort

Diez-Lopez Ignacio , Aurora Vilella San Martín Leyre , Sarasua Miranda Ainhoa , San Martin Orayen Amaia , Maeso Mendez Sandra

During the pandemic, an increase in the cases of premature thelarche consultations was observed. Our group published a series in 2021 of 75 cases. This effect could have been caused by an increase in body fat mass in girls, suggesting a “trigger effect” in the activation of the gonadal axis, causing an increase in the number of cases of early puberty (SEEP Oviedo 2022). AMH has been correlated as a predictor of the moment of menarche (doi: 10.1515/jpem-2014-0521)</...

hrp0097p2-180 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

SRY-positive 45, X male with monoorchism and hypospadias

Orbak Zerrin , Demir Busra , Yüce Kahraman Çiğdem , Fırıncı Binali

A rare case of a 4-year-old boy with a SRY-positive 45, X karyotype was presented. Family history of the child was not remarkable. His height and weight were -2.1 SD and -1.4 SD, respectively. Physical examination revealed a well-developed penis with hypospadias. His right testis was in the scrotum and the left testis was not palpable. In previous inguinal exploration recordings, unilateral testicular agenesis on the left side were noted. The right testis was biopsied and prep...

hrp0097p2-199 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Adolescent girl with premature ovarian insufficiency due to X-chromosome deletion

Dikaiakou Eirini , Georgiadis Ilias , Koutrouveli Eleni , Vakaki Marina , Grigoriadou Maria , Kolialexi Aggeliki , Vlachopapadopoulou Elpis-Athina

Objective: Premature ovarian insufficiency (POI) is rare in adolescents, most commonly caused by genetic defects or cytotoxic therapy. The aim is to present the case of an adolescent girl with normal pubertal progress and irregular menstrual cycle, followed by amenorrhea.Case presentation: A 15 9/12-years-old girl presented because of lack of menses for the previous 21 months. She reported that she had menarche at the ag...

hrp0097p2-200 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Familial Male-limited Precocious Puberty. Case report from Mexico City.

Acosta Fernanda , Zaragoza Diana , Abreu Melania

Familial Male-limited Precocious Puberty is a rare form of gonadotropin-independent precocious puberty. It is inherited in an autosomal dominant manner and it is caused by mutation in the LH/chorionic gonadotropin receptor (LHCGR) that promotes the production of cAMP without the hormone ligand, causing increased androgen production that determines the onset of puberty. The prevalence reported is less than 1/ 1 000 000. As there are few cases reported in the literature, informa...

hrp0097p2-224 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Spectrum of phenotypic features variation in XY DSD patients with NR5A1 mutation: case series

Raafat Shaymaa , Abdalla Ebtesam , Waheeb Saber

Background: Disorder of sex development (DSD) includes a wide spectrum of clinical disorders affecting gonadal and genital development. Many causative gene mutations are involved in these disorders. One of these genes is nuclear receptor subfamily 5 group A member 1 (NR5A1) encoding Steroidogenic factor-1 (SF-1) located on chr 9q33.3. This gene is expressed in many tissues such as Sertoli cell and Leydig cell in testes, ovaries, placenta, adrenal cortex, hypot...

hrp0097p2-225 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Oligomenorrhea in two girls with familial mediterranean fever: how chronic inflammation can impair ovarian cycle

Cristina Maggio Maria , Romano Domenico , Callari Simonetta , Corsello Giovanni

Introduction: Familial Mediterranean Fever (FMF) is an inherited auto-inflammatory disorder still extremely underdiagnosed in the Mediterranean area. The disease is secondary to a gain of function mutation of the MEFV gene, classically defined as “autosomal recessive”, with possible symptoms also in heterozygous patients. The mutation induces a hyperexpression of IL-1 beta and a chronic inflammation. Clinical manifestations are characterized by rec...

hrp0097p2-226 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Classical CAH girls having early intervention and puberty development.

Abdul Razzaq Ayesha , Waris Rehmana , Naseer Maryam , Waheed Nadia

Introduction: CAH (congenital adrenal hyperplasia) is the most common cause of ambiguous genitalia among girls. 21 Hydroxylase deficiency is the most common type of CAH. If the CAH girls have early intervention and they have started early treatment then they will achieve normal puberty. IF CAH girls have started treatment later in the life then they will present either with precocious puberty or delayed puberty.Methodology:</stro...