AI Article Synopsis
- The study examined 4580 fetuses over a nine-year period to explore the clinical spectrum of genital defects diagnosed before birth and identify factors predicting severe phenotypes at birth.
- A total of 61 cases were analyzed, with a high prenatal diagnosis accuracy of 90.1%, mostly involving undervirilized boys (68.8%) and some virilized girls (11.5%).
- Key findings indicated that early second trimester detection, intra-uterine growth restriction, and penile curvature were linked to more severe cases, highlighting the importance of prenatal imaging for early intervention.
Article Abstract
Objectives: To report the clinical spectrum of genital defects diagnosed before birth, identify predictive factors for severe phenotypes at birth, and determine the rate of associated malformations.
Patients And Methods: A retrospective study (2008-2017) of 4580 fetuses, identified prenatally with abnormalities evaluated by our Reference Center for Fetal Medicine, included cases with fetal sonographic findings of abnormal genitalia or uncertainty of fetal sex determination. Familial, prenatal and postnatal data were collected via a standardised questionnaire.
Results: In all, 61 fetuses were included. The positive predictive value (PPV) of the prenatal diagnosis of genital defects was 90.1%. Most cases were 46,XY-undervirilized boys, 42 cases (68.8%), which included 29 with mid-penile or posterior hypospadias, nine with anterior hypospadias, and epispadias, micropenis, scrotal transposition, and buried penis (one each). In all, 46,XX-virilized girls were identified in seven cases (11.5%), which included four with congenital adrenal hyperplasia, two with isolated clitoromegaly, and one with ovotestis. Other defects included prune belly syndrome and persistent cloaca (six cases). Early detection during the second trimester (58.1% vs 18.8%, P = 0.03), intra-uterine growth restriction (IUGR) (45.2% vs 9.1%, P = 0.06), and curvature of the penis (38.7% vs 0%, P = 0.02), were more frequently related to severe defects in male newborns. Associated malformations (14 cases, 22.9%) and genetic defects (six) were frequent in undervirilized boys.
Conclusion: Prenatal imaging of genital defects leads to a wide range of phenotypes at birth. Its PPV is high and extra-urinary malformations are frequent. Early diagnosis during the second trimester, associated IUGR, and curvature of the genital tubercle, should raise suspicion of a severe phenotype and may justify delivery near a multidisciplinary disorders/differences of sex development team.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/bju.14714 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cystic Basal Cell Carcinoma with a Giant Vulvar Cyst.
Acta Dermatovenerol Croat
November 2024
Takayuki Suyama, MD, PhD, Department of Dermatology, Dokkyo Medical University Saitama Medical Center, 2-1-50 Minami-koshigaya, Koshigaya, Saitama, 343-8555, Japan; ORCID ID: 0000-0002-6986-411X.
Cystic basal cell carcinoma (BCC) is a rare subtype of BCC (1). Histologically, it is usually characterized by multiple small cysts without a clinical cystic appearance (2). Herein, we report an unusual case of cystic BCC with a large vulvar cyst.
View Article and Find Full Text PDFAbsolute uterine factor infertility is conditioned by the congenital or acquired absence of the uterus or the presence of a nonfunctioning uterus in women who wish to become biological mothers. Uterine transplantation along with assisted reproductive techniques can provide this option for women without a uterus. In the early research period, to minimize the risk of preterm birth and other pregnancy-related complications, the uterus of a donor with a history of one to three successfully completed pregnancies was recommended for transplantation.
View Article and Find Full Text PDFBackground: Vaginal atresia (VA) is a rare female genital tract malformation characterized by the absence or incomplete development of the vagina, often leading to cyclic abdominal pain and menstrual blood retention in adolescent patients. Vaginal atresia is often accompanied by multiple organ malformations. The condition poses significant challenges in diagnosis and management, requiring a multidisciplinary approach.
View Article and Find Full Text PDFVitamin E improves the reproductive system of male rats exposed to busulfan chemotherapy.
Cell Mol Biol (Noisy-le-grand)
January 2025
Veterinary Medicine College, University Of Kerbala, Kerbala, Iraq.
Vitamin E is a well-known antioxidant and is frequently used as an adjunct treatment in cancer therapy. Busulfan is a commonly used drug for cancer treatment. In this study, twenty-eight male rats, ten weeks old and weighing between 250 and 300 grams, were divided into four groups.
View Article and Find Full Text PDFPlatelet Mitochondrial Function and Endogenous Coenzyme Q Levels Could Be Used as Markers of Mitochondrial Health in Infertile Men: A Pilot Study.
Int J Mol Sci
December 2024
Faculty of Medicine, Slovak Medical University, Limbová 12, 833 03 Bratislava, Slovakia.
Fertility disorders are a worldwide problem affecting 8-12% of the population, with the male factor substantially contributing to about 40-50% of all infertility cases. Mitochondria, crucial organelles for cellular viability, play a pivotal role in the processes of spermatogenesis and significantly affect sperm quality and their fertilizing ability. Mitochondrial oxidative phosphorylation (OXPHOS) dysfunction, reduced energy supply for sperm, reduced endogenous coenzyme Q (CoQ) levels, and oxidative stress are among the main factors that contribute to male infertility.
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!