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Mesonephric ducts regress in genotypic females, leaving behind few remnants. These vestigial structures are often recognized in the mesosalpinx and paracervical regions. We report here 3 cases of female-to-male transgenders who underwent hysterectomy following testosterone treatment. Both female and male genital structures were identified on histologic examination. Although the morphologic appearances of the specimens were unremarkable, histologically 1 case revealed a well-formed fallopian tube as well as an epididymis and 2 cases showed prostate glands to be present in the cervical squamous epithelium.

Virilization occurring in the postmenopausal woman may be either adrenal or ovarian in origin. We describe the case of a 74-year-old postmenopausal woman with severe virilization and a serum testosterone level elevated into the male range who was found to have a non-malignant aetiology for her condition.

A 37-year-old woman with a history consistent with polycystic ovarian disease became pregnant and developed exceedingly high levels of serum testosterone. The female fetus showed no evidence of virilization. A clinical diagnosis of bilateral theca lutein cysts was made. Modes of fetal protection from maternal androgenemia as well as suggestions for future investigations are discussed.

A 21-year-old 46 XY individual with familial male pseudohermaphroditism was investigated. Phenotype consisted of pseudovaginal perineoscrotal hypospadias with bilateral inguinal gonads and a masculine habitus without gynecomastia. Plasma testosterone, cortisol, follicle stimulating hormone, urinary 17-ketosteroids, and 17-ketogenic steroids were within the normal male range. Plasma dihydrotestosterone was at the lower limit of the normal male range. Plasma luteinizing hormone was three times and plasma estradiol was about one and a half times the upper limit of normal for men. These results are consistent with a partial defect in the mechanism of action of testosterone. The differential diagnosis of various forms of male pseudohermaphroditism is discussed.

This report describes a virilizing granulosa cell tumor in a postmenopausal woman. The tumor metastasized to the liver, urinary bladder, and spinal column. Although the bladder metastases were diagnosed initially as paraganglioma, review of the slides and the demonstration of abundant lipid within the tumor cells led to the correct diagnosis. The plasma testosterone and 17-hydroxyprogesterone levels were elevated, while the plasma 17-hydroxypregnenolone and dehydroepiandrosterone levels were normal, suggesting that the delta 4-pathway of testosterone biosynthesis was predominant in this tumor. Gonadotropin levels were suppressed and did not respond to gonadotropin-releasing hormone. Presumably, this suppression was due to an increase in the plasma testosterone level.

A 24-year-old woman was evaluated for primary amenorrhea and virilization. Karyotyping revealed a rare dicentric Y chromosome with complex mosaicism. Subsequent total abdominal hysterectomy/bilateral salpingo-oophorectomy demonstrated true hermaphroditism manifested by a right ovotestis, a left streak gonad, and Mullerian structures on the right despite the presence of testicular tissue. With the exception of short stature, Turner stigmata were not present despite the predominance of a 45,X cell line. The literature is reviewed.

A case of gonadal dysgenesis in a phenotypic female associated with neoplastic changes is presented. The patient typified a classic case of Turner syndrome with a 45, XO chromosomal compliment, becoming virilized as a result of the development of bilateral hilar cell hyperplasia in her dysgenetic gonads. The malignant potential of the dysgenetic gonad is stressed in this report. Early diagnosis and appropriate management are emphasized as the two factors that make the difference in the outcome of the patient with gonadal dysgenesis.

A 36-year-old woman with a 30-year history of undiagnosed virilizing lipoid-cell ovarian tumor is described. The tumor was localized by the NP-59 scan. Data of extensive investigations of steroid and gonadotropin secretion are provided. The preoperative dynamics of serum dehydroepiandrosterone sulfate and its decrease after the removal of the tumor suggested that dehydroepiandrosterone sulfate was being secreted by the ovarian tumor. Ovarian-peripheral venous gradients for plasma delta 5 and delta 4 steroids were correlated with the in vitro measurements of various steroidogenic enzymatic activities in the tumor tissue. The proposed metabolic pathway of the tumor is as follows: Pregnenolone----17-hydroxypregnenolone----dehydroepiandrosterone---- androstenedione----testosterone----estradiol. Low basal gonadotropin levels with no discernible pulsatility and no response to gonadotropin-releasing hormone were observed preoperatively, and a gradual normalization in both parameters was observed during the six months after removal of the tumor.

A 19-year-old phenotypic female with primary amenorrhea and 45X,0/46X,Y chromosomal mosaicism was found to have asymmetrical gonadal dysgenesis. Her lack of virilization precludes her precise categorization in the current nomenclature of gonadal dysgenesis and she is considered a unique variant of the syndrome of mixed gonadal dysgenesis.

Endocrine studies of a virilized adolescent patient with massive ovarian edema are reported. The histologic features of the affected ovary consisted of diffuse edematous stroma with scattered islands of lutein-like cells and no evidence of recent ovulation. Plasma concentrations of progesterone and 17-hydroxyprogesterone (17-OHP) in the peripheral and left ovarian veins and their ovarian-peripheral vein gradients were above the range observed during normal follicular phase. The considerable increase in the ovarian vein concentrations of both steroids observed after adrenocorticotropic hormone administration was noteworthy as a direct effect of this hormone on the ovarian synthesis of steroids has not previously been observed. Peripheral vein levels of testosterone (T) were increased. The secretion of T by the ovary was demonstrated by its elevated levels in the ovarian vein and in the ovarian-peripheral vein gradient. Unexpectedly, the levels of androstenedione in the ovarian vein were normal, suggesting an alteration in the ovarian biosynthetic pathway for the production of T. Similar findings have been observed in hirsute women with hyperthecosis ovarii. After surgery, the peripheral vein levels of 17-OHP and T returned to normal, pointing toward the ovary as their source of excess. The data indicate that stromal luteinization of the massive ovarian edema may lead to changes in normal ovarian steroidogenesis that would be responsible for the clinical manifestations of this disorder.

A case of maternal virilization associated with bilateral luteomas of pregnancy is described. Urinary 17-ketosteroids and plasma testosterone fell from markedly abnormal values to normal limits within 2 weeks of delivery. However, symptoms of virilization persisted in the postpartum state. A possible relation between polycystic ovarian syndrome in the nonpregnant state and luteoma of pregnancy is proposed.

A case is reported in which virilization of long duration and gradual progression was found in association with ovarian hyperthecosis and bilateral hilar cell lesions. The frequency occurrence of both masculinizing and nonmasculinizing ovarian tumors in association with ovarian hyperthecosis and polycystic ovaries is discussed.

OBJECTIVE: To identify conditions on a reproductive carrier screening panel with the potential for carrier manifestations during pregnancy and review the implications for obstetric care. METHODS: This was a retrospective cross-sectional study of consecutive samples from female patients aged 18-55 years submitted to a commercial laboratory for a 274-gene carrier screening panel (January 2020 to September 2022). A literature review was performed to identify genes on the panel with potential for pregnancy complications in carriers. Carrier expression and published recommendations for clinical management were reviewed. RESULTS: We identified 12 genes with potential for carrier manifestations during pregnancy based on reports in the literature: nine with manifestations irrespective of the fetal genetic status (ABCB11, COL4A3, COL4A4, COL4A5, DMD, F9, F11, GLA, and OTC) and three (CPT1A, CYP19A1, and HADHA) with manifestations only if the fetus is affected by the condition. Manifestations included cardiomyopathy, hemorrhage, gestational hypertensive disorders, cholestasis of pregnancy, acute fatty liver, hyperammonemic crisis, and maternal virilization. Published recommendations for carrier management were identified for 11 of the 12 genes. Of 91,637 tests performed during the study period, a pathogenic or likely pathogenic variant was identified in 2,139 (2.3%), giving a carrier frequency for any of the 12 genes of 1 in 43 (95% CI 1/41-45) 1,826 (2.0%) of the study population were identified as carriers for one of the nine genes with the potential for carrier manifestations irrespective of an affected or unaffected fetus. CONCLUSION: Approximately 1 in 40 female patients were identified as carriers for a condition with potential for maternal manifestations in pregnancy, including some serious or even life-threatening complications. Obstetric care professionals should be aware of the possibility of pregnancy complications among carriers and the available recommendations for management. [ABSTRACT FROM AUTHOR]

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting cortisol and aldosterone biosynthesis, which can lead to virilization in fetuses with a 46,XX karyotype. 21- hydroxylase deficiency is the most common cause of CAH, accounting for 90–99% of all patients with the condition. The management of patients with CAH should be done with a multidisciplinary team, which would address all of the complex components of their care throughout their lifespans. Many multidisciplinary teams have adopted shared decision-making approaches to genital surgery in which parents and patients can be part of the decision-making process. Continued research is needed to best serve these patients throughout their lifespans. [ABSTRACT FROM AUTHOR]