Background: Virilization in female newborns typically results from congenital adrenal hyperplasia, requiring immediate diagnosis and treatment. We report a rare cause of virilization, maternal pregnancy luteoma, responsible for virilization of both a newborn and the mother. Luteomas are usually asymptomatic tumour-like ovarian lesions of pregnancy that secrete androgens in only 25% of cases. Many female infants born to masculinized mothers will also be virilized.
Case: A term infant born with ambiguous genitalia was transferred to a referral centre for investigation, diagnosis, and treatment. Assessment identified Prader II-III genitalia, an elevated serum testosterone level, a normal serum 17-hydroxyprogesterone level, and a normal female karyotype (46,XX). The mother had had virilization from the second trimester and was found to have an elevated serum testosterone level. Pelvic ultrasound assessment in the mother showed a complex right ovarian mass. Laparotomy was performed, and the mass was excised. Histopathology examination confirmed a luteoma.
Conclusion: High maternal serum testosterone levels due to a luteoma can result in virilization in the female newborn. This report emphasizes the need to consider possible underlying maternal pathology in evaluating a virilized female infant.
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http://dx.doi.org/10.1016/s1701-2163(16)32642-1 | DOI Listing |
Ned Tijdschr Geneeskd
January 2025
St. Antoniusziekenhuis, Nieuwegein. Afd. Interne Geneeskunde.
Excessive hair growth is a common and distressing complaint in women. It is imperative to differentiate excessive hair growth from hirsutism with possible other signs of virilization. Hirsutism is commonly attributed to polycystic ovary syndrome (PCOS).
View Article and Find Full Text PDFDifferences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular hormones, leading to varying degrees of under-virilization. A 19-year-old phenotypically normal female from Kakamega, Kenya, presented with primary amenorrhea.
View Article and Find Full Text PDFJCEM Case Rep
February 2025
Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the gene (c.779C > T/p.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Division of Pediatric Endocrinology, Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that manifests clinically in varying forms depending on the degree of enzyme deficiency. CAH is most commonly caused by 21-hydroxylase deficiency (21OHD) due to mutations in the CYP21A2 gene. Whereas there is a spectrum of disease severity, 21OHD is generally categorized into 3 forms.
View Article and Find Full Text PDFInt J Equity Health
January 2025
Department of Community Nursing, Preventive Medicine and Public Health and History of Science, University of Alicante, Alicante, Spain.
Background: Violence against women (VAW) perpetrated by men is a public health problem of significant magnitude that negatively affects the whole society. Unequal gender relations produce differentiated positions in the social structure; gender roles that position men and women differently are defined and which are at the root of VAW. Framed within the European PositivMasc project, the aim of this study was to identify the areas for action to promote positive masculinities in preventing VAW in Spain, based on community stakeholders' perceptions on their importance and applicability.
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