Satisfaction with health care among people with differences of sex development (DSD) in Germany.

Objective: Individuals with a difference of sex development (DSD) face complex medical and psychosocial challenges, which can make it difficult to provide care tailored to their needs and in line with guidelines. The DSDCare project in Germany regularly evaluates the quality of care for people with DSD, focusing on patient satisfaction as a key indicator of care quality.

Design: Nationwide, longitudinal, multicentre observational study in Germany, including people with DSD.

Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.

Objective: 17β-Hydroxysteroid dehydrogenase 3 deficiency (17β-HSDD) and 5α-reductase type 2 deficiency (5α-RD) are rare 46,XY differences of sex development (DSD). This study aims to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.

Design: Retrospective multicentre cohort study.

Quality of care for people with differences of sex development (DSD) in Germany.

Background: People with "Differences of Sex Development" (DSD) require comprehensive, specialised, and individualised medical and psychological care. This is often perceived as inadequate by those affected. Therefore, the German Federal Ministry of Health funded the project DSDCare which aimed to improve the quality of care for people with DSD over the lifespan in Germany.

Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.

Introduction: Partial androgen insensitivity syndrome (PAIS) is a rare condition that is reported to be commonly associated with gynecomastia in males.

Objectives: To assess the management of gynecomastia in male PAIS.

Materials And Methods: Retrospective review of males with PAIS over the age of 10 years in the I-DSD registry.

Development of Quality Indicators to Evaluate the Quality of Care for People with Differences of Sex Development.

Introduction: Achieving evidence-based, high-quality medical care is the overarching goal of healthcare quality management. Quality indicators (QIs) serve as proxies to show whether good quality is reached or not. This article describes the development of QI for the evaluation of healthcare quality in the area of differences of sex development (DSD).

Is sex still binary?

In this perspective article we discuss the limitations of sex as a binary concept and how it is challenged by medical developments and a better understanding of gender diversity. Recent data indicate that sex is not a simple binary classification based solely on genitalia at birth or reproductive capacity but encompasses various biological characteristics such as chromosomes, hormones, and secondary sexual characteristics. The existence of individuals with differences in sex development (DSD) who do not fit typical male or female categories further demonstrates the complexity of sex.

Contexts of care for people with differences of sex development: Diversity is still missing in the laboratory routine.

The 2006 Chicago consensus statement of management of disorders/difference of sex development (DSD) has achieved advantages in clinical care and diagnosis for patients and families affect by DSD. This article provides a brief overview of contexts of care for physicians, and points out specific challenges in clinical practice that have arisen from the transformations of the sex/gender system in recent years. We focus on the impact of diagnosis and laboratory measurements.

New liquid chromatography tandem mass spectrometry reference data for estradiol show mini-puberty in both sexes and typical pre-pubertal and pubertal patterns.

Context: Reliable estradiol (E2) reference intervals (RIs) are crucial in pediatric endocrinology.

Objectives: This study aims to develop a sensitive ultra-performance liquid chromatographic tandem mass spectrometry (UPLC-MS/MS) method for E2 in serum, to establish graphically represented RI percentiles and annual RIs for both sexes, and to perform a systematic literature comparison.

Methods: First, a UPLC-MS/MS method for E2 was developed.

An overview of the outreach of the 2019-2021 Endo-ERN knowledge generation webinars.

The current study aims to assess the development of the knowledge generation program of the European Reference Network on Rare Endocrine Conditions (Endo-ERN) from its start in 2019 until December 2021, with special reference to webinars. We analyzed the number of webinars and live/postevent participants and whether participation and engagement of the attendees changed over time. A total of 30 (86%) self-prepared webinars comprising 300 h of knowledge and competence sharing were broadcasted (2019 - 3; 2020 - 13; 2021 - 14).

and Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis.

The group of disorders known as 46,XY gonadal dysgenesis (GD) is characterized by anomalies in testis determination, including complete and partial GD (PGD) and testicular regression syndrome (TRS). Several genes are known to be involved in sex development pathways, however approximately 50% of all cases remain elusive. Recent studies have identified variants in , a gene encoding a putative RNA helicase essential in ribosome biogenesis and previously associated with neurodevelopmental disorders, as a cause of PGD and TRS.

Transition for adolescents with a rare disease: results of a nationwide German project.

Purpose: The transition process from paediatric/adolescent to adult medical care settings is of utmost importance for the future health of adolescents with chronic diseases and poses even more difficulties in the context of rare diseases (RDs). Paediatric care teams are challenged to deliver adolescent-appropriate information and structures. Here we present a structured transition pathway which is patient-focused and adoptable for different RDs.

Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia.

Context: Burosumab has been approved for the treatment of children and adults with X-linked hypophosphatemia (XLH). Real-world data and evidence for its efficacy in adolescents are lacking.

Objective: To assess the effects of 12 months of burosumab treatment on mineral metabolism in children (aged <12 years) and adolescents (aged 12-18 years) with XLH.

Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.

Introduction: Although it was common in the 1970s-1990s to assign female gender of rearing to 46,XY infants with limited virilization of varying etiologies, including those with partial androgen insensitivity syndrome (PAIS), long-term data on outcomes for these individuals are sparse. Therefore, our goal was to use the power of an international registry to evaluate clinical features, surgical management, and pubertal data in patients with a molecularly confirmed diagnosis of PAIS who were born before 2008 and were raised as girls.

Methods: The current study interrogated the International Disorders of Sex Development Registry for available data on management and pubertal outcomes in individuals with genetically confirmed PAIS who were raised as girls.

Persistence of foetal testicular features in patients with defective androgen signalling.

Objective: Congenital defects of androgen synthesis or action in 46,XY individuals can result in impaired virilisation, despite the apparent testicular development. In a recent case, report of a young adult with complete androgen insensitivity syndrome (CAIS), tumourous gonadal tissue was shown to express HSD17B3 in Sertoli cells (SCs) and not in Leydig cells (LCs). This expression pattern differs from the typical adult human testis and resembles a foetal mouse testis, suggesting an underlying testicular development and function defect.

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without Duplication.

A region of 160 kb at Xp21.2 has been defined as dosage-sensitive sex reversal (DSS) and includes the gene, considered to be the candidate gene involved in XY gonadal dysgenesis if overexpressed. We describe a girl with 46,XY partial gonadal dysgenesis carrying a 297 kb duplication at Xp21.

Monthly video consultation for children and adolescents with type 1 diabetes mellitus during the COVID-19 pandemic.

Aims: To explore the impact of primarily telemedical care for children and adolescents with type 1 diabetes by monthly video consultations on metabolic control and parents' treatment satisfaction and disease-specific burden during the COVID-19 pandemic.

Methods: In this 12-month multicenter observational follow-up VIDIKI 2.0 study, 100 participants (3-18 years) received monthly video consultations, which partially replaced quarterly outpatient clinic appointments during the pandemic.

Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a meta-analysis and survey study.

Objective: The European Reference Network on Rare Endocrine Conditions (Endo-ERN) aims to organize high-quality healthcare throughout Europe, including care for pituitary adenoma patients. As surgery is the mainstay of treatment, we aimed to describe the current surgical practice and published surgical outcomes of pituitary adenoma within Endo-ERN.

Design And Methods: Systematic review and meta-analysis of studies reporting surgical outcomes of pituitary adenoma patients within Endo-ERN MTG6 pituitary reference centers between 2010 and 2019.

Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis.

Background: Duplications at the Xp21.2 locus have previously been linked to 46,XY gonadal dysgenesis (GD), which is thought to result from gene dosage effects of (), but the exact disease mechanism remains unknown.

Methods: Patients with 46,XY GD were analysed by whole genome sequencing.

MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis.

De novo variants in the myelin regulatory factor (MYRF), a transcription factor involved in the differentiation of oligodendrocytes, have been linked recently to the cardiac and urogenital syndrome, while familiar variants are associated with nanophthalmos. Here, we report for the first time on a patient with a de novo stop-gain variant in (p.Q838*) associated with Scimitar syndrome, 46,XY partial gonadal dysgenesis (GD) and severe hyperopia.

Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?

Introduction: NR5A1 is an essential transcription factor that regulates several target genes involved in reproduction and endocrine function. Pathogenic variants in this gene are responsible for a wide spectrum of disorders/differences of sex development (DSD).

Methods: The molecular study involved Sanger sequencing, in vitro assays, and whole exome sequencing (WES).