-Associated Ocular Albinism in a Hispanic Family and Review of the Literature.

While ocular albinism (OA) is usually associated with reduced vision, nystagmus, and foveal hypoplasia, there is phenotypic variability in iris and fundus hypopigmentation. Hemizygous pathogenic/likely pathogenic (P/LP) variants in at X: 151.56-151.

Perspectives From Adolescents and Young Adults With Klinefelter Syndrome on Testosterone Supplementation and Fertility.

Context: Infertility and testicular dysfunction are typical features of Klinefelter syndrome (KS; 47,XXY). KS affects ∼1:600 male births, making it the most common chromosomal aneuploidy. As more adolescent and young adult (AYA) patients with KS seek care, it becomes increasingly important to investigate their understanding of information about testosterone supplementation and infertility.

Finding acceptance: How adolescents and young adults with Klinefelter Syndrome navigate identity, disclosure, and support.

Klinefelter syndrome (KS; 47, XXY) is the most common chromosomal aneuploidy, affecting ~1:600 male births. Due to recent technological advances, KS is diagnosed more often in young individuals. This emerging population of adolescent and young adult (AYA) patients with KS seeking care makes it increasingly important to understand the unique experiences and perspectives of these individuals.

Role of endocrine and genetic evaluation for infants with proximal hypospadias.

Purpose: This study aims to determine if: (1) endocrine/genetic evaluation in infants with proximal hypospadias uncovers differences of sex development (DSD), and (2) phenotypic features or abnormal endocrine labs are associated with DSD. We further seek to update a proximal hypospadias testing algorithm that was proposed based on a prior study from our institution.

Materials And Methods: Infants <6 months of age with proximal hypospadias who underwent endocrine/genetic testing from 7/2018-12/2021 were reviewed.

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart review from 1994 to 2024 of individuals with NF-1 microdeletion syndrome followed at two large Neurofibromatosis Clinics.

Mixed Gonadal Dysgenesis: A Narrative Literature Review and Clinical Primer for the Urologist.

Purpose: Mixed gonadal dysgenesis is a difference of sex development that is often confused with other conditions. Individuals have a 45,X/46,XY karyotype. Gonads are characterized by a streak gonad and a dysgenetic testis at varying levels of descent.

Turner Syndrome With Y Chromosome and Germ Cells: A Case Report Highlighting the Need to Prioritize Individualized Care.

Turner syndrome (TS) is a genetic condition in phenotypic females in which the individual has 1 intact X chromosome and the second sex chromosome is absent or structurally altered Components of Y chromosome (eg, 45,X/46,XY) have been found in 5%-15% of patients with TS; these patients are often referred to as having "Turner syndrome with Y" (TS+Y). The presence of Y chromosome material increases risk for development of gonadal tumors. Historically, prophylactic gonadectomy has been recommended in this population to prevent malignancy, and patients were presumed infertile due to the presence of streak gonads with no germ cells (GCs).

Comparison of web-based information about cell-free DNA prenatal screening: implications for differences of sex development care.

Objective: Cell-free DNA (cfDNA) prenatal screening is a commercially available noninvasive test that detects fetal genetic material in maternal blood. While expectant parents often use it for "gender" determination, there is little information about unintended consequences of testing, such as revelation of a difference of sex development (DSD). The study aimed to characterize currently available website information about cfDNA and compare the cfDNA-related content.

Clinical utility of early rapid genome sequencing in the evaluation of patients with differences of sex development.

Establishing an early and accurate genetic diagnosis among patients with differences of sex development (DSD) is crucial in guiding the complex medical and psychosocial care they require. Genetic testing routinely utilized in clinical practice for this population is predicated upon physical exam findings and biochemical and endocrine profiling. This approach, however, is inefficient and unstandardized.

Neurofibromatosis- and schwannomatosis-associated tumors: Approaches to genetic testing and counseling considerations.

Neurofibromatosis (NF) and schwannomatosis (SWN) are genetic conditions characterized by the risk of developing nervous system tumors. Recently revised diagnostic criteria include the addition of genetic testing to confirm a pathogenic variant, as well as to detect the presence of mosaicism. Therefore, the use and interpretation of both germline and tumor-based testing have increasing importance in the diagnostic approach, treatment decisions, and risk stratification of these conditions.

Workflow for Management of Gonadal Neoplasm in 2 Patients with Differences of Sex Development Enrolled in an Experimental Gonadal Tissue Cryopreservation Protocol.

Objective: To outline our experimental gonadal tissue cryopreservation (GTC) protocol that does not disrupt the standard of care in medically-indicated gonadectomy for patients with differences of sex development, including highlighting the multidisciplinary collaborative protocol for when neoplasm is discovered in these cases.

Methods: Two patients with complete gonadal dysgenesis who were undergoing medically-indicated prophylactic bilateral gonadectomy elected to pursue GTC. Both were found to have germ cell neoplasia in situ on initial pathologic analysis, requiring recall of the gonadal tissue, which had been cryopreserved.

Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes.

Turner syndrome (TS) is a genetic disorder presenting in phenotypic females with total or partial monosomy of the X chromosome. Cardiovascular abnormalities are common, including congenital heart defects (CHD) and aortic dilation. Although mosaic TS is suspected to have less severe phenotype as compared to non-mosaic TS, differences in cardiovascular manifestations between karyotypes are not well studied.

Neurofibromatosis Type 1 (NF1): Addressing the Transition from Pediatric to Adult Care.

Health care transition, or HCT, is the process of adolescents and young adults moving from a child/family-centered model of health care to an adult/patient-centered model of health care. Healthcare providers have an essential role in this process which can be especially challenging for individuals with medical or special healthcare needs. Neurofibromatosis type 1 (NF1) is a complex multisystem disorder requiring lifelong medical surveillance, education, and psychosocial support.

Prenatal detection and evaluation of differences of sex development: A qualitative interview study of parental perspectives and unmet needs.

Objectives: Prenatal diagnoses of differences of sex development (DSD) are increasing due to availability of cell-free DNA screening (cell-free DNA screening (cfDNA)). This study explores first-hand experiences of parents whose children had prenatal findings of DSD.

Methods: Eligible parents were identified through chart review at a pediatric center and interviewed about their prenatal evaluation, decision making, informational sources, and support systems.

Ocular findings in pediatric turner syndrome.

Objective: Turner syndrome (TS) is associated with abnormalities across several organ systems, including the visual system. There is a relative paucity of literature describing ophthalmic manifestations of TS. We sought to investigate eye manifestations in our cross-sectional population of pediatric TS patients.

Transition Readiness Assessment in Adolescents and Young Adults with Neurofibromatosis Type 1 (NF1).

Neurofibromatosis type 1 (NF1) conveys significant disease morbidity and lower quality of life compared to the general population. Research has shown that decreased positive health outcomes are directly correlated with inadequate development of health-related self-management skills among similar patient populations, and among these populations a healthcare transition (HCT) intervention improves provision of care and health outcomes. Thus, HCT intervention may improve care and outcomes in NF1.