ESPE Abstracts

Introduction: Disorders of sex development (DSD) constitute a group of congenital conditions that affect urogenital differentiation and are associated with chromosomal, gonadal and phenotypic sex abnormalities.Objective: To evaluate clinical and genetic features of childhood DSD cases.Materials and Methods: DSD patients followed up between the years of 1981-2018 were evaluated in t...

Objective: Clinical Observation of fifty-two patients with 5-alpha-reductase deficiency (5 - alpha-reductasedeficiency, 5α-RD) with oral testosterone undecanoate. To evaluate the efficacy and drug safety, find the optimum age of medication.Methods: Prospective self-controlled comparison methods were used to analyze the clinical data and follow-up results in sixty-nine patients who are diagnosed with 5-alpha-reductas...

Introduction: Differences of sex development (DSD) encompass a variety of conditions with atypical development of chromosomal, gonadal or anatomic sex. 46, XX ovotesticular (OT) DSD is a rare condition, in which the presence of testicular and ovarian tissues is identified in the same individual. These patients present variable phenotypes with a wide spectrum of atypical genitalia and their sex assignment can be male or female. Short stature is a frequent issue...

Introduction: Aromatase deficiency is a rare cause of autosomal recessive 46, XX disorders of sex development (DSD) due to CYP19A1 gene mutations. The affected patients cannot have a normal estrogen biosynthesis. It is characterized by low serum estrogen, increased gonadotropins, and ovarian cysts. Herein, we report a new case with aromatase deficiency.Case Report: A 1-month-old girl was referred due to cliterom...

Introduction: Sexual disorders 46 XY are responsible for a range of phenotypic disorders; from an ambiguous phenotype to a complete female phenotype. This is often a sporadic condition. In this context, we report 5 cases of gonadal dysgenesis, 46 XY belonging to the same family and particular phenotypic expression. this particular phenotype arise a question about the link between familial sexual differenciation disorders and the panel of genes involved in sexu...

Objective: The study was to detect the proper regimen of estrogen in HRT in girls with TS.Method: We conducted a retrospective, longitudinal study with 76 girls with TS from The First Affiliated Hospital of Sun Yat-sen University over the past two decades.Results: The investigation time was 3.00 (2.00, 4.66) yrs. The uterine volume grew significantly till B4 stage when compared wit...

Objective: To determine the mutation in the SRY gene in a 46,XY complete gonadal dysgenesis patient with bilateral gonadoblastoma and coexisting dysgerminoma. Evaluate the functional consequence of mutated SRY gene in the tumor risk of 46,XY DSD.Methods and Materials: The proband was a 13-year-old girl who was admitted for examination due to undeveloped secondary sexual characteristics. She had no breas...

Objective: to evaluate clinical and laboratory characteristics of various types of gonadal dysgenesis in girls with hypergonadotropic hypogonadism.Methods: 17 girls with hypergonadotropic hypogonadism (13.9±3.72) were examined. Inclusion criteria: characteristics of delayed puberty, no disorders of sex development, presence of müllerian duct derivatives, high levels of gonadotrophins. Tanner stage, antropometri...

Introduction: Policystic ovarian syndrome (PCOS); is an endocrinopathy characterised by overlap of hyperandrogenism and hyperinsulinism and chronic anovulation. Etiopathogenesis is still not clearly defined. Fetuin-A is aserum glycoprotein. It is shown to play regulatory functions in many inflammatory processes. We aim to define the relationship of fetuin-A levels with hyperandrogenism and hyperinsulinism in PCOS patients and study the role in pathophysiology....

Introduction: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) enzyme deficiency is a rare cause of 46 XY disorder of sexual development. It is inherited autosomal recessively and clinical phenotype is highly heterogeneous and depends on the mutation severity. Conversion of androstenedione to testosterone deteriorates due to lack of enzyme.Objective: In this case report, we present a case who was born en...

Background: Aromatase deficiency has been associated with disordered sexual development in infancy and delayed puberty later. The condition responds to estradiol treatment with normalization of gonadotropin levels and pubertal development. We report a girl with a novel Aromatase mutation with persistently elevated gonadotropin levels despite adequate estrogen treatment.Case report: This thirteen and a half year old girl ...

Objective: To analyse chromosomal abnormalities of the patients who were referred for the screening of short stature and delayed puberty and to verify the association between karyotype and phenotype in confirmed Turner Syndrome (TS) patients.Study Design: Descriptive study. Place and Duration of Study: Department of Pediatric Endocrinology and Diabetes Unit-II, National Institute of Child Health, Karachi, from January 20...

Introduction: Leydig cell hypoplasia (LCH) or agenesis, is an autosomal recessive condition and a well-defined form of 46,XY disorder of sex development (DSD) resulting from inadequate foetal testicular Leydig cell differentiation.Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicityCase report: We studied a 15-ye...

Disorders of sex development (DSD) have defined as congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Wilms tumor 1(WT1) gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms tumor, nephropathy, gonadoblastoma and other defects e.g. cryptorchidism, hypospadias. Sex chromosome mosaicism is a major cause of DSD with a wide phenotypic variability. The p...

Background: Laboratory evaluation is crucial for accurate assessment of patients with endocrine disorders. When clinical picture is in obvious contradiction with laboratory results, one should suspect and prove analytical interference.Case presentation: a 6.7-year-old girl presented with sexual and axillary hair accompanied by adult-type body odor. She was tall (height SDS 2.6), with no other signs of virilisation and no...

Introduction: NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations have been described in 46,XY disorders of sex development (DSD). The clinical, endocrine and genetic features of three 46,XY children from two unrelated families (A and B) with NR5A1 genetic variants are reported.P...

Introduction: Testicular regression syndrome (TRS) is a rare disease characterized by testicular dysfunction that causes varying degrees of virilization defect according to the emergence period in fetal life. The majority of cases present with normal male external genitalia. However, ambigious genitalia or, more rarely, female external genitalia can be found depending on the extent and timing of the intrauterine accident. Here, we present a case of TRS with no...

Introduction: Disorders of sex development (DSD) are conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex. We present a case of a phenotypic 46 XY female with primary amenorrhea and full thelarche, presence of Mullerian structures, elevated testosterone with no virilization, and bilateral adnexal masses. Our differential diagnosis included Androgen Insensitivity and Gonadal Dysgenesis.Case Descriptio...

Background: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene can produce LCH. In this poster, we present three siblings with LCH based on the clinical and laboratory findings and the molecular diagnosis.Cases: A seven-year-old child was brought to our hospita...

Introduction: Klinefelter syndrome (KS) occurs in approximately 1 in 650 males, representing the most common sex chromosome disorder. However, it is estimated that only 25% of KS patients are ever diagnosed, and 90% of them are not identified until 15 years of age. The disease is caused by congenital aneuploidy of the sex chromosomes; the most usual karyotype being 47, XXY. Typical phenotype includes tall stature, hypergonadotropic hypogonadism, small ...

Introduction: The birth of a child with disorders of sex development (DSD) requires a long-term strategy of monitoring and treatment which is carried out by a multidisciplinary group of professional physicians, with a mandatory understanding of the psychosocial problems in a child and parents.Materials and Methods: Gender self-identification was investigated in 20 children and adolescents with DSD aged 1.5-17 years. To d...

Background: Testicular atrophy is a rare complication following inguinal hernia repair particularly in children<2 years and those with an undescended testis at highest risk> with an undescended testis. Inhibin B is secreted from the testis as a product of Sertoli cells, and has been suggested as a good marker for spermatogenesis. Its value is expected to be very low in children with bilateral testicular atrophyCase Report...

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is due to the failure of gonadotrofin releasing hormone (GnRH) secretion which impairs the physiological initiation of puberty. About 30 to 50% of IHH is associated to hereditary causes and about 50 mutated genes have been identified.Objective and methods: We present three intra-familial cases of normosmic IHH (nIHH) related to a new association of two hetero...

Introduction: Testicular regression syndrome (TRS) also called vanishing testes syndrome is a rare developmental disorder that represents less than 5% of cryptorchidism cases. It is characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS phenotypes are various depending on the extent and timing of the intrauterine accident during fetal sexual development.Material and Me...

Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 becaus...

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY and 46,XY, partial gonadal dysgenesis.Subjects and Methods: It was included 27 patients with disorders of gonadal dysgenesis at birth to 9 years, which were divided into groups based on cytogenetic survey – DSD 46,XY, partial gonadal dysgenesis (n=10) and DSD 45,X/46,XY (n&...

Objective: The aim of the study was to describe the etiologic diagnosis, clinical characteristics in children with 46,XY disorder of sexual development (DSD).Methods: The 125 46, XY patients were included the retrospective study. The definitive diagnosis was made by presentations and clinical findings, gonadal morphology and genital anatomy of patients, basal and stimulated hormone results, imaging methods and molecular ...

Objectives: To describe the patients with gender non-conforming referred to a pediatric medical center after creation of the multidisciplinary team "APEVAGE" (Ambulatorio Pediatrico per la Varianza di Genere, Pediatric Clinic for Gender Variance) composed by pediatric endocrinologist, psychologist and child psychiatrist at Institute for Maternal and Child Health "Burlo Garofolo" in Trieste. It is one of the 8 centers recognized by ONIG (Osserva...

Gynecologic anomalies, including uterine agenesis and ovarian dysgenesis, are reported in clinical practice of reproductive endocrinology. They are some of several differential diagnoses in adolescent females with primary amenorrhea and delayed puberty. Primary ovarian insufficiency can be determined by conducting sex hormone tests to evaluate the hypothalamic-pituitary-ovarian axis, but accurate confirmation of Mullerian agenesis can be extremely challenging by image modaliti...

The girl was born full-term vaginally with birth weight 3.380kg. She had stayed in neonatal unit for 3 days for neonatal fever. Physical examination was unremarkable. She had normal-looking female external genitalia. She was discharged after a negative infection screen.She presented again at the age of 11 years with hoarseness of voice. Physical examination revealed normal growth and blood pressure. She had hoarseness of voice with mild laryngeal promine...

Turner syndrome(TS) is a chromosomal disorder which occurs in 1/2500 - 1/3000 among female live births, characterized by short stature, pubertal failure and cardiac defects. Mosaicism of 45X/47XXX is extremely rare and accounts for 1.7% of the TS cases. TS with 45X/47XXX is more likely to have spontaneous puberty. The case we present herein is a 13-years old girl who was admitted to Chuncheon sacred heart hospital due to severe anemia. She was diagnosed with Turner syndrom...

Introduction: Disorders of sexual development (DSD) include etiologically heterogeneous group of patients that have disorders of genital development. Consensus guidelines that are currently used, divide all DSD in three main groups - sex chromosomal abnormalities, XX or XY DSD, all divided in subgroups in dependence of genetics and hormonal tests. The phenotypic spectrum of external genitalia, gonads and development of Wolfian and Mulerian duct derivatives var...