IMPE Abstracts

Background: Gonadotropin-releasing hormone agonists (GnRHa) are the treatment of choice for girls with central precocious puberty (CPP). Several adult height prediction models by using deep learning based on growth measurements have been presented. But there is no widely used machine learning in Korean population to predict adult height. The aim of this study was to evaluate the effects of GnRHa therapy on final height outcomes from the start of the treatment ...

Background: Endocrine conditions like Polycystic Ovary Syndrome (PCOS) are widely discussed on social media, but there is no literature characterizing this information. TikTok is a popular video-sharing social platform avidly used by youth and females. We sought to analyze the quantity and quality of PCOS-related content on TikTok.Methods: The 200 most-liked TikTok videos under “#PCOS” were analyzed. Metadata...

The relationship between soy isoflavones (SI)-induced gut dysbiosis and puberty onset has not been explored, and the protective effect of probiotic are still controversial. This study investigated the action of SI and probiotic on the age of puberty onset in female c57/bl mice. Changes in the gut microbiota and production of short chain fatty acids (SCFAs) metabolism are highlighted to analyze a possible causative relationship to puberty onset. The results demonstrate that SI ...

Differences of sex development (DSD) with asymmetrical overgrowth is a very rare condition that can be secondary to a chromosomal mosaicism (ChM). ChM is usually a post zygote event and arises when two or more cell lines with different chromosomal constitutions are present in the same individual. Usually distinctive methodologies approaches are required to reach the diagnosis. Our objective is to describe a patient with asymmetrical overgrowth and DSD and the methodological st...

Background: Variants in Steroidogenic Factor 1 (SF-1/NR5A1) lead to a broad spectrum of phenotypes including differences of sex development (DSD). Individuals with DSD are born more often small for gestational age and are smaller than the general population, but mechanisms remain unclear. In this study we assessed if SF-1/NR5A1 variants may play a role in growth impairment and whether auxological parameters correlate with the degree of DSD in an inter...

Introduction: The 46, XY complete gonadal dysgenesis (CGD) is characterized by the presence of a female phenotype and completely undeveloped gonads (streak). This entity is considered as high-risk condition for the development of gonadal germ cell cancer.Aim: to characterize the genetic etiology in a patient with 46, XY DSD and CGD.Case report: A 12-year-old girl was admitted by a ...

Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of the 46,XY Differences in Sexual Development (DSD). 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 analysis (LH, FSH, estradiol, testosterone) and whole AR gene sequencing. Psychosexual variables (gender identity, gender role, and sexual orientation) were ...

Background: Wilms Tumor 1 gene (WT1) is essential for gonadal development and testicular development. Pathogenic variants in its 1-3rd Zinc Finger (ZF) domains are one of the major causes of 46, XY disorders of sex development (DSD). Interestingly, the variants located on the 4th ZF were recently described to cause the reversed phenotype, 46, XX DSD. Due to its clinical phenotype, i.e., 46, XX testicular DSD, all reported nine patients we...

The reported incidence of extragonadal germ cell tumors (eGCT) in Klinefelter Syndrome (KS) patients is 1.5/1.000, a fifty-fold increase over the general population. A recent literature review describes fewer than 150 reported cases (Bonuvrie K et al, Int J Pediatr Endocrinol 2020). Mediastinum is the most prevalent localization of eGCT in pediatric patients with KS. Hormonal profile of these patients was not described in these series.Ca...

A 2 year old boy presented with penoscrotal hypospadias, bilateral undescended testes and a bifid scrotum. Initial biochemical workup was not suggestive of a particular underlying diagnosis and he underwent orchidopexy and hypospadias repair. In collaboration with an international team, research genetics was undertaken to look for a cause for his undiagnosed 46,XY DSD. Whole exome sequencing was performed as a trio analysis (with a virtual DSD gene panel comprising 109 genes) ...

Introduction: Haematological malignancies represent the most frequent childhood cancer. Little is known about small ovarian follicle function at diagnosis in girls with acute lymphoblastic leukaemia (ALL), acute myeloid leukaemia (AML) or non-Hodgkin lymphoma (NHL). AMH is a useful marker of small follicles.Aim: To determine small ovarian follicle status at diagnosis and after 3 months of chemotherapy in girls and adoles...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders. Defects in the 21-hydroxylase (21OH) enzyme make up 90% of CAH. These defects result in androgen excess in salt-wasting or simple virilizing forms. As androgens play a role in human psychosexual development, this study was designed to evaluate the impact of androgens on the psychosexuality of individuals with CAH due to 21OH deficiency.<strong...

Introduction: To assess testicular function, in patients with differences in sexual development (DSD), the Leydig cell stimulation test with human chorionic gonadotropin hormone (hCG) is performed and testosterone production is measured. There is no uniformity in terms of hCG dose or duration of stimulation. At the National Institute of Pediatrics (INP), this test is performed with 10,000 IU IM, for 4 consecutive days, and a daily sample of testosterone is tak...

Pathways of care for management of DSD are evolving, with poorly described models of care and limited evidence-based guidelines. This study aimed to explore current care models for individuals with DSD in Australasia, to identify perceived gaps/strengths/barriers in current practice and explore the diagnostic approach of clinicians, particularly in regards to genetic testing. An anonymous REDCap online survey was undertaken, recruiting clinicians involved in the diagnosis/mana...

Introduction: 5 alpha reductase deficiency is an autosomal recessive genetic disorder recognized as a rare cause of disorder of sexual differentiation that is limited to males mostly. Phenotype of patients associated with this is usually small phallus, bifid scrotum, urogenital sinus with perineal hypospadias and undescended testes. At puberty, phallus size increases and viralization occurs. We here present 2 genetically proven cases from Pakistan with this ra...

Introduction: 3BHSD2 enzyme is crucial for adrenal and gonad steroid biosynthesis. In recessive loss-of-function HSD3B2 mutations, steroid flux is altered leading to a rare form of congenital adrenal hyperplasia (CAH) that compromise genital development in both, 46,XX and 46,XY individuals.Aim: To report the clinical and biochemical findings and the follow-up of patients with CAH secondary to 3BHSD2 deficiency confirmed ...

In patients with 46,XY disorders of sex development (DSD), next-generation sequencing (NGS) analysis leads to an aetiological diagnosis in ~40% of the cases. One contribution of this diagnostic approach is the possibility of applying reverse phenotyping when a variant in a gene associated with multiple organ hits is found. The aim of this work is to report a case of a patient with 46,XY DSD in whom the identification of a novel variant in MYRF led to the detection of a clinica...

Background: Steroidogenic factor 1 (SF-1/NR5A1) is a nuclear receptor that regulates sex development, steroidogenesis and reproduction. Genetic variants in SF-1/NR5A1 are common among differences of sex development (DSD) and associate with a wide range of phenotypes, but their pathogenic mechanisms remain unclear. We aimed at characterizing novel missense, likely disease-causing SF-1/NR5A1 variants in a large cohort of DSD individual...

Introduction: Transgender and gender–diverse (TGD) individuals do not fully identify with the gender assigned at birth. Argentina has approved in 2012 a pioneer gender identity law (N° 26.743) which depathologize this condition and guarantees access to medical care of TGD individuals. In recent years, there has been a significant increase in the number of youth seeking gender-affirming medical interventions leading to the creation of multidisciplinar...