In the following article the description of four cases of congenital testicular testis, which attend to be under our observation, is reported. Moreover, the diagnostic process is discussed, with particular reference to echography. Afterwards, the method for early surgical exploration is evaluated. The survey concludes that echographic inquiry does not have to be judged indispensable.
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Differences/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 PDFUrol Case Rep
January 2025
Department of Urology, General Hospital of Central Theater Command of Chinese People's Liberation Army, China.
Hypospadias is a common congenital malformation of the reproductive system; however, to date, no cases of hypospadias complicated by polyorchidism have been reported in the literature. This article reports a case of a 1-year-old boy presenting with hypospadias, who was also diagnosed with polyorchidism combined with cryptorchidism. Preoperative Doppler ultrasound revealed two testes on the right side, and an atrophic testis on the left.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.
Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in severe cortisol and aldosterone deficiency, leading to persistent adrenal stimulation and excess production of ACTH and adrenal androgens. This review examines the clinical considerations and challenges of balancing under- and overtreatment with glucocorticoids in adolescent and adult male individuals with CAH. Adolescents face many unique challenges that can hinder adherence, hormonal control, and transition to independence.
View Article and Find Full Text PDFBackground: An estimated 17% of all couples worldwide are involuntarily childless (infertile). The clinically identifiable causes of infertility can be found in the male or female partner or in both. The molecular pathophysiology of infertility still remains unclear in many cases but is increasingly being revealed by genetic analyses.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Department of Genetics, Reproductive Biomedicine Research Center, 48499 Royan Institute for Reproductive Biomedicine, ACECR , Tehran, Iran.
Differences of sex development (DSD) refer to various congenital conditions affecting the urogenital and hormonal systems. Accurate diagnosis and personalized management are crucial for supporting patients through complex decisions, such as those related to gender identity. This study represents the first comprehensive investigation into DSD in Iran, analyzing patient's clinical and genetic data between 1991 and 2020.
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