Gonadal dysgenesis ≈ Gonadal dysgenesis
View article
Experimentally induced testicular dysgenesis syndrome originates in the masculinization programming window Open
The testicular dysgenesis syndrome (TDS) hypothesis, which proposes that common reproductive disorders of newborn and adult human males may have a common fetal origin, is largely untested. We tested this hypothesis using a rat model involv…
View article
Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals Open
Steroidogenic factor 1 (NR5A1, SF‐1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal devel…
View article
Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development Open
The first estimate on prevalence of 46,XY females is 6.4 per 100 000 live born females. The presentation of AIS and gonadal dysgenesis is distinctly different, with AIS being diagnosed during childhood and gonadal dysgenesis during puberta…
View article
Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis of children and adolescents with disorders of the gonadal axis Open
In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides informa…
View article
Essential Role of <i>BRCA2</i> in Ovarian Development and Function Open
The causes of ovarian dysgenesis remain incompletely understood. Two sisters with XX ovarian dysgenesis carried compound heterozygous truncating mutations in the BRCA2 gene that led to reduced BRCA2 protein levels and an impaired response …
View article
What Does AMH Tell Us in Pediatric Disorders of Sex Development? Open
Disorders of sex development (DSD) are conditions where genetic, gonadal, and/or internal/external genital sexes are discordant. In many cases, serum testosterone determination is insufficient for the differential diagnosis. Anti-Müllerian…
View article
Disorders of Sex Development: Classification, Review, and Impact on Fertility Open
In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determ…
View article
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD Open
Context The genetic basis of human sex development is slowly being elucidated, and >40 different genetic causes of differences (or disorders) of sex development (DSDs) have now been reported. However, reaching a specific diagnosis using tr…
View article
<i>MAP3K1</i>‐related gonadal dysgenesis: Six new cases and review of the literature Open
Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex‐determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common …
View article
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis Open
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genital…
View article
Male Hypogonadism and Disorders of Sex Development Open
Disorders of Sex Development (DSD) are congenital anomalies in which there is a discordance between chromosomal, genetic, gonadal, and/or internal/external genital sex. In XY individuals, the process of fetal sex differentiation can be dis…
View article
Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up? Open
Objective Few studies of patients with a 45,X/46,XY mosaicism have considered those with normal male phenotype. The purpose of this study was to evaluate the clinical outcome of 45,X/46,XY boys born with normal or minor abnormalities of ex…
View article
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant Open
Background: A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid chang…
View article
Disorders of sex development: a study of 194 cases Open
Objective To study the clinical profile and the management of patients with disorders of sex development (DSD). Design and setting Retrospective study from a tertiary care hospital of North India. Methods and patients One hundred ninety-fou…
View article
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development Open
Context Massively parallel sequencing (MPS) technologies have emerged as a first-tier approach for diagnosing several pediatric genetic syndromes. However, MPS has not been systematically integrated into the diagnostic workflow along with …
View article
Paternal Induction of Hybrid Dysgenesis in <i>Drosophila melanogaster</i> Is Weakly Correlated with Both <i>P</i>-Element and <i>hobo</i> Element Dosage Open
Transposable elements (TEs) are virtually ubiquitous components of genomes, yet they often impose significant fitness consequences on their hosts. In addition to producing specific deleterious mutations by insertional inactivation, TEs als…
View article
DMRT1 repression using a novel approach to genetic manipulation induces testicular dysgenesis in human fetal gonads Open
This project was funded by a Wellcome Trust Intermediate Clinical Fellowship (Grant No. 098522) awarded to RTM. LBS was supported by MRC Programme Grant MR/N002970/1. RAA was supported by MRC Programme Grant G1100357/1. RMS was supported b…
View article
Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum Open
Context 46,XY Gonadal dysgenesis (GD) is a heterogeneous group of disorders with a wide phenotypic spectrum, including embryonic testicular regression syndrome (ETRS). Objective To report a gene for 46,XY GD etiology, especially for ETRS. …
View article
<i>NR5A1</i>gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients Open
Several recent reports have described a missense variant in the gene NR5A1 (c.274C>T; p.Arg92Trp) in a significant number of 46,XX ovotesticular or testicular disorders of sex development (DSDs) cases. The affected residue falls within the…
View article
Progress in Fertility Preservation Strategies in Turner Syndrome Open
Growth retardation and gonadal dysgenesis are two of the most important clinical manifestations of Turner syndrome (TS). As premature ovarian failure generally occurs early in life in women with TS, these patients should be counseled and e…
View article
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia Open
Summary Objective The objective of this study was to determine the aetiological spectrum of disorders of sex development ( DSD ) in a large cohort of underprivileged and undiagnosed patients from Indonesia. Methods A total of 286 patients …
View article
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development Open
Our study supports a role for ESR2 as a novel candidate gene for 46,XY DSD.
View article
Disorders of sex development: Genetic characterization of a patient cohort Open
Disorders of sex development (DSDs) are congenital conditions in which the external appearance of the individual does not coincide with the chromosomal constitution or the gonadal sex. In other words, there is an ambiguous or intermediate …
View article
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 ( <i>WT1</i> ) pathogenic variant Open
Molecular diagnosis is rarely established in 46,XX testicular (T) disorder of sex development (DSD) individuals with atypical genitalia. The Wilms' tumour factor‐1 (WT1) gene is involved in early gonadal development in both sexes. Classica…
View article
Health‐related quality of life and psychological well‐being in adults with differences/disorders of sex development Open
Summary Objective Rare congenital conditions with incongruence of chromosomal, gonadal and phenotypic sex have been classified as differences/disorders of sex development ( DSD ). Included in DSD are conditions with diverse genetic aetiolo…
View article
Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis Open
Summary Primary amenorrhea could be caused by disorders of four parts: disorders of the outflow tract, disorders of the ovary, disorders of the anterior pituitary, and disorders of hypothalamus. Delay in diagnosis and hormone substitution …
View article
Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review Open
Background Much interest has not been placed on the role of chromosomal abnormalities in the pathogenesis and rising prevalence of infertility in recent times. This review was conducted to renew public interest on the chromosomal basis of …
View article
PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans Open
Context Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by hom…
View article
Genetic evidence for Amh modulation of gonadotropin actions to control gonadal homeostasis and gametogenesis in zebrafish and its noncanonical signalling through Bmpr2a receptor Open
Anti-Müllerian hormone (AMH/Amh) plays an important role in gonadal function. Amh deficiency caused severe gonadal dysgenesis and dysfunction in zebrafish with gonadal hypertrophy in both sexes. However, its action mechanism remains unknow…
View article
Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis Open
Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, p…