Disorders of Sex Development (DSD)

Researchers are studying the impact of exposure to Endocrine-Disrupting Chemicals (EDCs) on the risk of hypospadias, a common birth defect affecting the external genital organs in boys. This multicenter case-control study compares biological mothers of boys with hypospadias (Case Group) to mothers of boys without malformations (Control Group) to better understand environmental and hormonal factors that might contribute to this condition. The study aims to clarify how exposure to these chemicals during pregnancy might influence hormonal changes in newborns. The study involves a single consultation visit where a pediatric urologist or endocrinologist will confirm the presence or absence of hypospadias. Mothers will complete a validated European questionnaire and an occupation/exposure matrix to assess environmental and occupational exposure to EDCs during pregnancy. Hair samples will be collected from mothers to analyze accumulated toxic substances, and blood samples will be taken from the children to evaluate hormone levels during the neonatal mini-puberty period. For cases, an additional blood sample will be collected for DNA analysis. Participants will attend one visit where clinical examinations, interviews, and sample collections occur. Researchers will measure toxic exposures through hair analysis, assess environmental exposures using questionnaires and models, and evaluate hormonal levels in the children. The study will help improve understanding and prevention of hypospadias by linking environmental exposures and hormonal changes. The total participation involves this single visit, with careful monitoring and data collection during that time.

Researchers are evaluating the safety, effectiveness, how the body processes, and the effects of atumelnant treatment in children with classic congenital adrenal hyperplasia (CAH). This Phase 2/3 study includes an open-label extension and involves pediatric participants aged 1 to under 18 years. The study is designed to assess these factors through multiple parts, including initial open-label cohorts, a randomized placebo-controlled phase, and a long-term extension. The study has three parts: Part A includes open-label, semi-sequential cohorts for different age groups with safety reviews before progressing; Part B is a double-blind, randomized, placebo-controlled phase comparing atumelnant to placebo; Part C is an open-label extension where participants from Parts A and B can continue treatment. Atumelnant and placebo are given as once-daily oral tablets with dosing based on weight. Participants will undergo various assessments including measuring morning serum androstenedione and 17-hydroxyprogesterone levels, pharmacokinetic and pharmacodynamic studies, and monitoring glucocorticoid doses. Safety and efficacy are evaluated at multiple time points up to 260 weeks. The study also includes long-term monitoring of hormone levels and glucocorticoid dosing while tracking participant adherence and health status throughout the study duration.

Researchers are evaluating the effects of atumelnant in adults with classic Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency. This Phase 3, global, multicenter, randomized, double-blind, placebo-controlled study aims to assess the drug's efficacy, safety, pharmacokinetics, and pharmacodynamics in participants aged 18 to under 75 years who have been on stable glucocorticoid therapy for at least two months. Participants will be randomly assigned in a 2:1 ratio to receive either atumelnant 80 mg once daily or a matching placebo for 32 weeks. There is an option to increase the atumelnant dose to 120 mg daily at Week 20. Before treatment begins, a screening period of 3 to 6 weeks will determine eligibility. Approximately 150 participants may take part in this study. During the study, participants will be monitored for hormone levels related to CAH and glucocorticoid dosing, with primary outcomes measured at Week 32. Assessments include morning serum androstenedione levels and other hormone markers. Safety and adherence to study procedures will also be closely observed. The study period extends up to 32 weeks of treatment following screening, with detailed evaluations throughout.

Researchers are evaluating different doses of Lu AG13909 in adults with congenital adrenal hyperplasia (CAH), a rare genetic disorder that affects hormone production. The study aims to understand the safety, tolerability, how the body processes Lu AG13909, and the body's response to this investigational drug. The research is conducted across multiple phases to assess these aspects carefully. Participants will receive multiple intravenous doses of Lu AG13909 according to specified dosing schedules divided into three parts: Part A, Part B, and Part C. Each part starts after confirming the safety and tolerability of the dose from the previous part. After Part C, participants may have the option to continue treatment in an extension phase. The dosing and treatment schedules are carefully planned and monitored throughout the study. During the trial, participants will undergo regular assessments including blood tests to measure hormone levels like 17-hydroxyprogesterone and androstenedione, as well as monitoring for treatment-emergent adverse events and the presence of anti-drug antibodies. Pharmacokinetic parameters such as serum concentration and elimination half-life of Lu AG13909 will be tracked up to several months. The total participation duration can extend up to about a year or more depending on the study part and extension involvement.

Researchers are assessing the long-term safety, tolerability, and effectiveness of atumelnant (CRN04894) in people with congenital adrenal hyperplasia (CAH). This open-label, single-arm extension study enrolls participants who have already completed earlier studies with atumelnant and who are judged by investigators to benefit from continued treatment. About 150 participants are expected to take part in this Phase 2 trial. Participants will receive atumelnant orally, with dosing up to the highest level previously tested in earlier studies for CAH. The treatment period may last up to two years, during which participants will continue to take stable doses of glucocorticoid replacement therapy such as hydrocortisone or equivalent. The study focuses on continued monitoring of safety and effectiveness as participants use atumelnant over this extended timeframe. Throughout the study, participants will have regular assessments including blood tests to measure hormone levels like androstenedione and 17-hydroxyprogesterone, monitoring for adverse events, and evaluations of glucocorticoid doses. Researchers will track hospitalizations related to CAH, adrenal crises, and other safety outcomes up to week 108. This long-term approach aims to provide detailed information about the impact of atumelnant on participant health and disease management over time.

Researchers are conducting a natural history study to better understand the health and wellbeing of individuals with Androgen Insensitivity Syndrome (AIS), a rare condition where the body cannot respond to male hormones due to differences in the androgen receptor gene. The study aims to describe a detailed health profile of people with AIS by examining hormonal, metabolic, cardiovascular, bone, immune, and quality of life aspects as well as tumor risks. It will also include adult relatives to provide comparison data and help clarify the role of the androgen receptor in human health. Participants will undergo various assessments including physical exams, medical history reviews, blood and urine tests, heart monitoring through electrocardiograms, and imaging tests such as X-rays, MRI, and sonograms. Adults may have additional scans like MR elastography, MR spectroscopy, and cardiac CT scans. The study is observational with no treatment interventions; participants will have visits every 1 to 2 years and may continue participation indefinitely. Adult relatives are invited for a single visit with some of the same assessments. During the study, researchers will collect data on bone density, metabolic and immune markers, tumor monitoring, sexual function, and overall quality of life. Tests will include questionnaires, glucose tolerance tests, and imaging to evaluate bone and tissue health. The study will monitor participants over time to gather comprehensive information on AIS and its effects. Safety and clinical care will be provided alongside data collection throughout the study period, which may last for many years.

This research aims to find out whether a guided journaling program can reduce stress and anxiety in parents of children with urogenital conditions, such as differences of sex development and hypospadias. The study seeks to understand if journaling helps lower anxiety levels and gather parents' views on group-based writing support programs for the future. Participants will receive a physical journal containing five writing prompts designed to help them process emotions related to their child's condition. They will complete five journal entries over several weeks, spending 15 to 20 minutes on each writing session at least once per week. This single-arm study includes baseline and follow-up anxiety assessments, plus a 30 to 45-minute interview after finishing the journaling to discuss effects on stress and gather feedback. During the study, parents will complete the General Anxiety Disorder-7 (GAD-7) questionnaire at the start and after the journaling period, about six weeks later. They will also participate in an interview to assess changes in anxiety and coping strategies. Researchers will evaluate changes in anxiety scores and the acceptability of the journaling program. Total participation lasts about six weeks.

Researchers are investigating the cardiovascular health of transgender individuals undergoing gender-affirming care, specifically focusing on the effects of gender-affirming hormone therapy (GAHT). This study aims to address gaps in knowledge about the long-term cardiovascular risks and mechanisms associated with GAHT, especially for people assigned female at birth (AFAB) receiving testosterone and those assigned male at birth (AMAB) receiving feminizing hormone therapy. The research highlights the need for robust, prospective data to better understand how GAHT impacts blood pressure, lipid profiles, and overall cardiovascular risk in transgender populations. The study observes transgender individuals receiving gender-affirming hormone therapy: masculinizing GAHT with testosterone for AFAB participants and feminizing GAHT combining estradiol with anti-androgens like cyproterone acetate or GnRH analogues for AMAB participants. Some AMAB participants may receive estradiol alone after orchiectomy. Gender-affirming surgery is also part of the care pathway but is not the direct focus of the study. The investigation tracks changes in vital signs, blood tests, body composition, and insulin resistance over time while monitoring cardiovascular health outcomes. Participants will be followed from baseline through to study completion, estimated by 2035. They will undergo regular assessments including measurements of vital signs, anthropometric data, laboratory blood tests, and body composition analysis. Researchers will evaluate lifestyle habits and the presence or absence of cardiovascular disease, as well as how different GAHT regimens affect cardiovascular parameters. The study offers careful monitoring of cardiovascular risk factors in the context of gender affirmation, aiming to inform safer and more effective clinical guidelines for transgender health care.

Hypospadias is a common genital malformation in boys that is usually treated with surgery. Researchers are evaluating whether caudal anesthesia compared to dorsal penile block anesthesia affects the rate of surgical complications like urethrocutaneous fistulas and glans dehiscence after hypospadias repair. This pilot randomized controlled trial aims to determine if one anesthesia method leads to fewer complications and to test the feasibility of a larger study. Participants aged 6 to 48 months undergoing distal hypospadias repair will be randomly assigned to receive either a caudal block or a dorsal penile block anesthesia. Both methods use inhalation induction with air/nitrous oxide and sevoflurane followed by an injection of bupivacaine without epinephrine. Additional pain management includes fentanyl, dexamethasone, ondansetron, acetaminophen, morphine, and post-discharge medications such as oral morphine, Ditropan, Tylenol, ibuprofen, and trimethoprim until catheter removal. During the study, children will be closely monitored for postoperative complications for up to one year. Researchers will assess safety and complication rates, medication usage, and recovery progress. This double-blind, randomized trial will provide detailed data on the impact of anesthesia type on surgical outcomes and help guide future treatment decisions.

Researchers are studying transgender people in China who are beginning gender-affirming hormone therapy (GAHT) to better understand the physical and mental effects of this treatment. This research addresses the lack of data about GAHT in the Chinese transgender population, focusing on social, mental, and health impacts. The study includes transgender men and women diagnosed with gender dysphoria and aims to gather important evidence about their experiences and health changes. Participants will receive GAHT following international guidelines, with transgender men receiving testosterone undecanoate and transgender women receiving estradiol combined with antiandrogens such as spironolactone or cyproterone acetate. The study also includes healthy cisgender people for comparison. The hormone treatments are monitored over a 12-month period, with evaluations at baseline and during treatment to measure physical and psychological changes. During the study, participants will complete questionnaires about their life experiences, gender identity, and mental health. Researchers will assess insulin sensitivity, beta-cell function, bone density, depression, anxiety, suicide ideation, gender dysphoria, social exclusion, and brain function at various points. Safety is monitored through tracking any adverse effects, and participants are followed for a full year. The study aims to provide a comprehensive view of GAHT’s effects using detailed health and psychological assessments.