Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1093/clinchem/hvaa241 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.
Eur J Endocrinol
January 2025
Department of Paediatric Endocrinology, Erasmus University Medical Centre, 3015 GD Rotterdam, The Netherlands.
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.
Diagnosis and surgical decision-making of a 46, XX ovotesticular disorders of sex development patient: a case report.
Front Surg
December 2024
Department of Burn and Plastic Surgery, West China Hospital, Sichuan University, Chengdu, China.
Background: Ovotesticular disorder of sex development is a rare form of disorder of sex development that manifests as ovotestis in individuals. The precise diagnosis and the choice of surgical procedures are still in conflict condition due to the rarity of the disease, diverse clinical presentations, and the lack of evidence-based medical studies on postoperative outcomes.
Case Presentation: We present a 46, XX ovotesticular disorder of sex development case, aged 19, with Prader stage IV virilization who underwent feminizing genitoplasty surgery.
Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns.
J Clin Res Pediatr Endocrinol
December 2024
Department of Pediatric Endocrinology, Marmara University, School of Medicine, Istanbul, Turkiye.
Signs of virilization, such as clitoromegaly, labio-scrotal fusion, and urogenital sinus may be observed in females with 21-hydroxylase deficiency (21-OHD) and other rare virilizing forms of congenital adrenal hyperplasia (CAH). This makes sex determination difficult, and multiple reconstructive surgeries in the postnatal period may be required. As 21-OHD is an autosomal recessive disease, the chance of any child being affected is one in four and so only one in eight will be an affected female.
View Article and Find Full Text PDFRare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.
J Clin Res Pediatr Endocrinol
December 2024
University of Health Science, Dr Sami Ulus Child Health and Diseases Health Implementation and Research Center, Clinics of Pediatric Endocrinology, Ankara, Türkiye.
Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11 beta-hydroxylase deficiency (11βOHD), 3 beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17 hydroxylase deficiency and lipoid CAH may also be encountered in clinical practice. 11βOHD is the most common type of CAH after 21OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21OHD, findings of mineralocorticoid deficiency are not observed.
View Article and Find Full Text PDFPersistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the Gene and Literature Review.
Diagnostics (Basel)
November 2024
Endocrinology Department, Elias Emergency University Hospital, 011461 Bucharest, Romania.
: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!