ESPE Abstracts

Background: 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions caused by abnormal gonadal development or in androgen synthesis or action. Genes play an important role in DSD, but mechanisms are not clear. This study identified a Chinese family with the 46, XY female DSD caused by the CUL4B gene.Method: s: The proband medical history and pedigree were investigated. Variants analysis w...

Background: Sex hormones are crucial for the growth and development of children and adolescents. Several studies have indicated the association between lifestyle factors and sex hormones in adulthood. However, few studies have assessed the association of lifestyle factors and sex hormones among children and adolescents. This study aim ed to assess the association between lifestyle factors and sex hormones in children and adolescents.<str...

Introduction: Desert hedgehog (DHH) is mainly involved in testicular development and peripheral nerve sheath formation. DHH protein is produced by Sertoli cells and promotes Leydig cell development. It regulates androgen synthesis through Sertoli-Leydig cell interaction and is also involved in sex differentiation. Biallelic DHH (MIM*605423) variants are an extremely rare cause of 46,XY gonadal dysgenesis (GD). Patients may present with abnormal genita...

Introduction: Variation of sex development are rare diseases with diverse aetiologies. Ovotesticular diseases are not well described in Sub Saharan countries, justifying the present study with aimto draw the clinical and biomolecular aspects in a paediatric center.Methods: We did an observational study of patients followed in the Mother and child center of the Yaounde. Ovo testicular DSD was diagnosed on clinical, morpho...

Spontaneous pregnancies are rare in women with Turner syndrome (5.6-13%) and are often associated with a mild phenotype (late diagnosis), a normal cell lineage within a mosaic karyotype and normal pubertal maturation. Proposed biomarkers to predict fertility are AMH and ovarian histology, but none are certain. We report on an 18-year-old teenager who became pregnant despite having protected sexual intercourse (condom). At the age of 15.5 years, she was diagnosed with Turner sy...

We report two patients with 45,X/46,X, idic (Y) gonadal dysgenesis (GD) diagnosed at birth based on genotype-phenotype discordance identified in the routine clinical follow-up during early pregnancy. Genotypic sex, as determined by cell free DNA testing was 45 XO in the first patient while phenotypic sex was male. Second patient was found to have a 46, XX genotype with SRY detected through rhesus incompatibility screening, while phenotypic sex was female. Postnatal ka...

Introduction: 46,XX testis/ovotesticular (OT) disorders of sex development (DSD) are rare conditions where gonadal differentiation in 46,XX individuals leads towards testicular development. SRY-negative 46,XX OT-DSD is even rarer compared to other DSDs.Case Presentation: A male patient presented at the age of 3 due to micropenis. Physical examination revealed penile hypospadias and bifid scrotum; phallus length was 2.2 c...

Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in women. The diagnosis of PCOS in adolescent patients can be difficult because characteristics of normal puberty often overlap with signs and symptoms of PCOS. Irregular menstrual cycles and ultrasound display of multiple follicles are common finding during puberty. In recent years new diagnostic criteria for PCOS in adolescent females were introduced. These new criteria i...

Introduction: Perrault syndrome is a rare autosomal recessive (AR) disorder (<1:1.000.000). Mutations in several genes, including HSD17B4, HARS2, CLPP, LARS2, TWNK, and ERAL1 have been associated with it, reflecting the genetic and clinical heterogeneity of this condition. It is characterized by bilateral mild to severe sensorineural hearing loss (SNHL) in both sexes and gonadal dysgenesis in 46,XX karyotype females. Ovarian dysfunction ranges from underdev...

Background: Congenital hypogonadotropic hypogonadism (CHH) is defined by a partial or complete failure of pubertal development due to inadequate secretion of gonadotropins, which is triggered by deficient GnRH activity. Diagnosis is confirmed by low sex hormone levels and low or inappropriately normal levels of LH and FSH, in the absence of anatomical abnormalities in the hypothalamic-pituitary axis, and without other pituitary hormone deficiencies.<p clas...

Background: Hypertension is a recognized complication in children with Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, treated with glucocorticoids and mineralocorticoids. This study aims to compare the clinical and laboratory characteristics of children with CAH who developed hypertension with those who maintained normal blood pressure (BP) over a treatment course.Methods: This retrospective cohor...

Background: Congenital Adrenal Hyperplasia (CAH) is a complex endocrine condition with varying presentations, one of which includes precocious puberty. Understanding how precocious puberty affects clinical parameters in pediatric CAH patients is crucial for optimizing management strategies.Methods: This study conducted a comprehensive statistical analysis comparing pediatric CAH patients with precocious puberty (n</e...

Introduction: Parents of girls with Turner syndrome (TS) are coping with various challenges associated with caring for a child with a chronic disease.Aims: Explore the logic and importance of group support for parents of girls with TS.Methods: Group support sessions for parents of girls with TS were divided into meetings regarding psychological aspects, medical aspects, and social ...

Background: In recent years, the number of consultations of transgender children and adolescents has gradually increased. In our region, this group receives care from a specialized multidisciplinary team, formed in 2015. It is basically composed of a psychosexologist, two adult endocrinologist, a pediatric endocrinologist, among other specialists.Objective: To describe the characteristics of the children and adolescents ...

The care provided to minors with gender diversity (GD) in the different communities of Spain is very different. A multidisciplinary management should be carried out from the health care point of view.Objective: To know the attitude of pediatricians in the field of Pediatric Endocrinology in order to make proposals for improvement in response to the needs expressed.Material and Methods: An anonymous...

Objective: This study aim ed to investigate the effect of height on the quality of life in boys with delayed puberty and to compare the groups of boys with delayed puberty depending on height SDS among themselves.Design, Patients, and Measurement: A total of 17 boys with delayed puberty (average age 14.3 &pm; 1.08) were included.Study design: depending on height SDS, there were 2 g...

Background: Frasier syndrome (FS) is a rare inherited disease characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in intron 9 splice donor site of the Wilms’ tumor suppressor gene 1 (WT1). It can be associated with 46,XY gonadal dysgenesis (female external genitalia with a 46,XY karyotype). Gonadoblastoma usually occurs in the second decade of life but can develop as early as 9 months of age in children with gonadal ...

Background: Currently, 1-4% of newborns have cryptorchidism and 30% of them have bilateral cryptorchidism (BC). BC should rule out 46, XX Disorder of Sexual Development (DSD). In 46, XY patients gonosomal abnormalities, alterations in genes involved in 46, XY DSD or hypogonadotropic hypogonadism may be the cause. Currently, patients with BC undergo early orchiopexy in the first 18 months of life. However, in these patients, BC etiology, pubertal development an...

Background: Testicular and ovo-testicular 46,XX-DSD are very rare conditions that have a variable presentation and often pose challenging questions regarding long-term outcome of gonadal function.Methods: Eligible cases were identified in the I-DSD Registry and centres were asked to update the clinical dataset to their last available assessment. The cases were categorised by assigned sex and age categories. Elevated and ...

Introduction: 21-hydroxylase deficiency (21-OHD) is the most common cause of female virilisation at birth and carries heavy psychosocial consequences. Early antenatal treatment with dexamethasone is successful in avoiding severe virilisation, thus reducing the need for surgery and improving psychological outcome.Objectives: To evaluate the feasibility and effectiveness of antenatal treatment in 21-OHD in a resource-limit...

The majority of causes of gynecomastia in children and adolescents are physiologic but if it occurs outside the neonatal and pubertal period or persists after age 17 year, pathologic causes should be considered. A 17 year-old man presented with a 7-month history of breast enlargement without nipple discharge. He was born at 3300 grams. He hadn't any history of chronic disease and medication use. His parents were consangineous more distant than third degree. There was no f...

Background: To understand the quality of information that is available in the I-DSD Registry (https://sdmregistries.org/), this study aim ed to understand the extent of information that is available on the phenotype of the external genitalia in males that have been included with a condition associated with a suspected hypogonadal state and DSD.Methods: A total of 3,248 m...

Background: Obesity as a risk factor and predictor for cardiovascular outcomes is of particular interest in gender-affirming healthcare, as hormone therapy can negatively impact lipid profiles and alter body fat percentages. Transgender and gender diverse (TGD) populations are at a higher risk for obesity than cisgender populations. This trend is already visible in adolescents. The reasons for this disparity are multifaceted and require further investigation.<...

Introduction: Primary ovarian insufficiency (POI) is a condition characterized by amenorrhea with elevated FSH and LH levels as a result of ovarian dysfunction. Ovarian failure is a very rare condition in pediatric population. Genetic syndromes (Turner, Fragile X syndrome) or malignancy treatment are the main reasons. The minichromosome maintenance complex component 8 (MCM8) gene is responsible for the repair of DNA double-strand breaks;MCM8 is a rare cause of...