13 citations
,
June 2006 in “Fertility and Sterility” This research identified nonclassic 21-hydroxylase deficiency as the most common genetic autosomal recessive disorder in humans, particularly among certain ethnic groups, and found that treatment effectively reverses symptoms within months.
21 citations
,
December 2015 in “Development Growth & Differentiation” This study introduces genital sex differentiation parameters (GSDP) to analyze sexual differences in external genitalia and perineum development in mice, revealing varied sensitivity to androgen inhibition in genital structures.
45 citations
,
April 2018 in “Nature Reviews Urology” This review discusses the molecular mechanisms of masculinization involving androgen signaling and their roles in male embryonic development and conditions like hypospadias and prostate cancer, and reports no clinical results.
15 citations
,
December 2019 in “Aesthetic Surgery Journal” This study found that there is a low prevalence and wide variability in U.S. insurance coverage for ancillary gender surgeries, with specific criteria often required for favorable coverage.
14 citations
,
January 2013 in “Indian Journal of Endocrinology and Metabolism” This review discusses the fertility and pregnancy challenges faced by women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new research findings.
26 citations
,
December 2016 in “Psychiatric Clinics of North America” This review describes current medical and surgical treatments for transgender men, highlighting the effectiveness and general tolerability of hormone treatment, and suggesting that surgical benefits often surpass associated risks, although it reports no new clinical findings.
10 citations
,
February 2019 in “Toxicological Sciences” This study reports that chemically induced short anogenital distance in male rat fetuses involved distinctive transcriptional changes, suggesting roles for estrogen and Wnt2 signaling in anogenital tissue development.
May 2021 in “Journal of Advances in Internal Medicine” This case report describes a 13-year-old with DSD raised as female, exhibiting hoarseness and clitoral enlargement, with hormonal assessments not indicating common related deficiencies.
2 citations
,
July 2021 in “Journal of Dermatology and Dermatologic Surgery” This study observed that male fetuses exposed to finasteride in utero may develop external genital anomalies, with the outcome dependent on the timing of exposure.
98 citations
,
July 1983 in “Journal of Steroid Biochemistry” This study in the Arab population of Gaza described pseudohermaphroditism due to 17β-HSD deficiency, where individuals showed marked masculinization after puberty despite inadequate androgen proportions.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
11 citations
,
May 1996 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study reported that 5 alpha-reductase type 2 is the predominant enzyme in pubic skin fibroblasts across normal men, women, and hirsute patients, suggesting potential treatment options for idiopathic hirsutism.
September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
11 citations
,
January 2016 in “The Journal of Sexual Medicine” This study found that young women with nonclassic congenital adrenal hyperplasia had impaired sexual function and mild depressive symptoms compared to healthy women.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
30 citations
,
June 2019 in “Frontiers in Endocrinology” This article discusses the challenges in diagnosing non-classical congenital adrenal hyperplasia and emphasizes personalized treatment approaches, reporting no new clinical results.
28 citations
,
May 2013 in “The Journal of Steroid Biochemistry and Molecular Biology” This review presents substantial evidence supporting testosterone use for hypoactive sexual desire disorder in postmenopausal women, but notes safety concerns with off-label prescribing due to lack of approved formulations.
11 citations
,
August 2019 in “The Journal of Sexual Medicine” This study found that women with nonclassic congenital adrenal hyperplasia (NC-CAH) reported lower sexual function and higher sexual distress compared to those with classic CAH (C-CAH), particularly among those showing signs of androgen excess.
39 citations
,
October 2018 in “Aesthetic surgery journal” This review discusses nonsurgical techniques for facial masculinization and feminization in transgender patients and reports no new clinical findings, utilizing data from analogous procedures in cisgender individuals.
15 citations
,
December 2021 in “Nature Communications” In studying wild meerkats, researchers observed that matriarchs with high androgen levels during late gestation exhibited increased dominance and aggression, affecting both their behavior and their offspring's aggression.
8 citations
,
February 2010 in “Journal für Kardiologie (Krause & Pachernegg GmbH)” This study developed a detailed classification system for functional androgenization in females that may enhance diagnosis and personalized treatment by identifying individual dysfunctions.
5 citations
,
December 2004 in “Dermatology” This review describes two cases of young women with primary amenorrhea and hyperandrogenemia, suggesting that adrenal tumors should be considered in patients with significantly elevated circulating testosterone levels.
January 2020 in “Research Portal Denmark” This study concludes that anti-androgenic chemicals causing short anogenital distance in male fetuses also induce a feminized transcriptional profile in the perineum, implicating Wnt and estrogen signaling in the process.
10 citations
,
May 2009 in “Cases Journal” This case study reports that a virilizing Leydig cell type ovarian tumor in a 40-year-old woman caused hyperandrogenism and virilization symptoms, which improved post-surgery.
52 citations
,
January 1995 in “The Journal of Clinical Endocrinology and Metabolism” This study observed that finasteride and spironolactone both led to a similar significant, but limited, improvement in hirsutism despite their differing effects on androgen levels.
12 citations
,
October 2004 in “Experimental Gerontology” This review summarizes how common polymorphisms in androgen and estrogen receptor genes may influence aging-related symptoms and diseases in men, but it reports no new clinical results.
39 citations
,
April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
January 2023 in “Open Journal of Endocrine and Metabolic Diseases” This study in Senegal reported that among women with hyperandrogenism, the primary diagnosis was polycystic ovarian syndrome, with symptoms including hirsutism, menstrual disorders, and acne.
5 citations
,
January 2023 in “Fertility and sterility” This review discusses the emerging considerations and challenges of uterus transplantation for transgender women but presents no new clinical results.
59 citations
,
August 2004 in “Human Reproduction Update” This article discusses the challenges in diagnosing female androgen insufficiency syndrome due to unreliable testosterone measurement methods but notes symptom improvement with testosterone therapy, emphasizing the need for women-specific formulations and safety guidelines.