46,XY disorders of sex development (DSDs) are rare congenital conditions resulting from impaired gonadal differentiation and/or steroidogenesis. The NR5A1 gene encodes steroidogenic factor 1 (SF-1), a key regulator of gonadal development and endocrine function, and pathogenic variants are associated with a broad phenotypic spectrum that may present beyond the neonatal period. We report the case of a 12-year-and-6-month-old phenotypic female adolescent presenting with severe hirsutism, acne, primary amenorrhea, and progressive virilization. Hormonal evaluation demonstrated hyperandrogenism with hypergonadotropic hypogonadism. Imaging revealed the absence of a normal uterus and ovaries, with the presence of a Müllerian remnant, along with bilateral gonadal structures consistent with testicular tissue, and cytogenetic analysis showed a 46,XY karyotype. Genetic testing identified a novel heterozygous pathogenic NR5A1 splice-site variant (c.871-2A>G), confirming the diagnosis of 46,XY DSD. Multidisciplinary management included bilateral gonadectomy followed by estrogen replacement therapy. This case highlights an uncommon adolescent presentation of 46,XY DSD revealed by severe hyperandrogenism in a phenotypic female individual and underscores the importance of molecular genetic testing for accurate diagnosis, management, and long-term follow-up.

Hyperandrogenism in women typically presents with hirsutism and other virilizing features. When it presents with accelerated clinical features and/or high androgen levels (total testosterone > 5 nmol/L) (>145 ng/dL) (reference range, <2.4 nmol/L [SI: <70 ng/dL]), particularly in the post-menopausal state, an underlying ovarian or adrenal neoplasm should be considered. With ovarian pathology, androgen-secreting ovarian tumors and ovarian hyperthecosis are the key differential diagnoses. The recommended treatment for androgen-secreting ovarian tumors (ASOTs) is surgical removal. In contrast, ovarian hyperthecosis may be managed conservatively, provided an androgen-secreting malignant tumor has been excluded. Clarifying this diagnostic uncertainty is a challenge, and imaging and biochemical tests are not always diagnostic. There is additionally a need for better medical treatment in patients with benign ASOTs. We report two cases of female hyperandrogenism with a radiologically identified ovarian lesion, managed with a gonadotropin-releasing hormone (GnRH) antagonist, namely, degarelix. Degarelix was helpful for both diagnosis and treatment of symptoms. We highlight its potential role in diagnosis and medical management, particularly as an option for patients who are unwilling or unable to undergo immediate surgery. We also hypothesize that a fall in total testosterone following GnRH antagonist injection may indicate that an ovarian tumor is benign.

This observational study was designed to establish and validate a stigma prediction model for patients with polycystic ovary syndrome (PCOS). The stigma risk scoring table for overweight and obese patients with PCOS has good predictive ability. When an overweight or obese patient with PCOS presents, the prediction model allows clinic staff to rapidly grade hirsutism, acne, and acanthosis, determine fertility desire, and quantify anxiety. Low-risk patients then receive standard care, whereas high-risk patients receive precision interventions. Unlike the traditional approach, this clinical prediction model incorporates not only laboratory values but also body-image concerns and psychological well-being, providing more comprehensive management for women with PCOS. To preliminarily explore the associations among stigma, PCOS signs, anxiety, and depression. A total of 124 overweight and obese patients with PCOS were selected using convenience sampling. The patients in the order of clinic visit time were divided into a modeling set and a validation set at a ratio of 3:1. Univariate analysis was first performed, normally distributed continuous variables were compared using t-tests, non-normally distributed continuous variables with nonparametric rank-sum tests, and categorical variables with χ2 tests. Independent risk factors for stigma were identified using multivariable logistic regression, and a nomogram was constructed. The model's discrimination and calibration were evaluated with the receiver operating characteristic curve and calibration curve. Internal validation was subsequently conducted on the validation data set to assess model performance comprehensively. Hirsutism (odds ratio [OR]=0.075, 95%Cl: 0.015-0.368) , acne (OR=0.210, 95%Cl: 0.050-0.878) , acanthosis nigricans (OR=0.184, 95%Cl: 0.044-0.073) , fertility requirements (OR=0.212, 95%Cl: 0.051-0.890) , and anxiety (OR=1.217, 95%Cl: 1.074-1.378) were independent influencing factors for stigma in these patients (P < .05). The constructed prediction model also demonstrated good predictive ability, with area under the curve values of 0.941 and 0.803 for the modeling and validation sets, respectively. Internal validation using 1000 bootstrap resamples revealed a mean area under the receiver operating characteristic curve area under the curve of 0.941.

5α-androstane-3α,17β-diol 17-glucuronide (3α-diol G) is a testosterone metabolite and an important biomarker of hormonal dysregulation, including polycystic ovary syndrome (PCOS) and virilizing syndromes in women such as idiopathic hirsutism. While immunoassay kits are commonly used for its quantification in clinical laboratories, these methods are prone to interference due to the structural similarity among steroidal compounds. In this study, we developed and validated a robust LC-MS/MS method for the quantification of 3α-diol G in human serum. Extraction was performed using a μelution SPE approach, allowing the achievement of a suitable LLOQ (0.140 ng/mL) with a low sample volume (100 μL). The chromatographic method successfully separated major known interferences, including glucuronidated androsterone (ADT-G) and etiocholanolone (Etio-G), and resolved unknown coeluting compounds that could otherwise lead to overestimation. Additionally, monitoring the transitions of the most common phospholipid showed no interference from these species. Method validation followed CLSI recommendations, assessing imprecision, accuracy, linearity, limit of quantification, carryover, and stability. The routine analysis incorporated a system suitability protocol based on ion ratio monitoring to detect potential coeluting interferences prior to batch analysis. This work highlights the importance of chromatographic separation and ion ratio monitoring in steroid analysis and provides a reliable alternative to immunoassay-based quantification of 3α-diol G.

Severe hyperandrogenism with new-onset virilization in postmenopausal women is rare and often associated with androgen-secreting tumors. Nevertheless, a comprehensive differential diagnosis must be considered, including ovarian hyperthecosis and Cushing syndrome. We report a 71-year-old woman with progressive hirsutism over 1-2 years, presenting with severe hyperandrogenism and insulin resistance. Physical examination revealed moderate hirsutism with a score of 15 according to the modified Ferriman-Gallwey scale, androgenic alopecia, dental diastema, macroglossia, and acanthosis. Hormonal analysis demonstrated elevated free testosterone levels on two separate occasions: 8.1 ng/mL (SI: 28 nmol/L) and 6.7 ng/mL (SI: 23.2 nmol/L) (reference range 0.12-0.35 ng/mL [SI 0.42-1.22 nmol/L]); with all other androgenic parameters within the normal range. Imaging studies, including abdominal computed tomography (CT) and transvaginal ultrasound, showed normal adrenal glands and adnexa. Based on clinical suspicion, the patient underwent bilateral adnexectomy. Histopathology confirmed a bilateral ovarian steroid cell tumor, not otherwise specified. Postoperatively, serum testosterone normalized (0.16 ng/mL [SI: 0.55 nmol/L]) within one month with progressive improvement in hirsutism.

We report a rare case of nonclassical 21-hydroxylase deficiency (NC21-OHD) diagnosed in adulthood after being misdiagnosed as polycystic ovary syndrome (PCOS) for 9 years. A 27-year-old Japanese woman presented with longstanding amenorrhea, hirsutism, and polycystic ovarian morphology on ultrasonography but did not exhibit withdrawal bleeding after standard estrogen/progestin (E/P) therapy. Hormonal evaluation revealed a low luteinizing hormone (LH) level, elevated testosterone (T), and a significantly increased 17α-hydroxyprogesterone level, which further increased following adrenocorticotropic hormone stimulation. Genetic analysis identified compound heterozygous mutations in the CYP21A2 gene (c.92C>T; c.293-13C>G), confirming the diagnosis of NC21-OHD. This case underscores the importance of considering NC21-OHD in adolescents and young adults with atypical PCOS features, such as severe hirsutism, abnormal hormonal profiles (low LH with markedly elevated T levels), and resistance to standard E/P therapy.

Statistics from 2024 have shown that 50% of young women use contraception. Nowadays, it is not only used to prevent pregnancy. Positive effects of this treatment can be seen in cases of acne vulgaris, hirsutism, and painful menstruation. A controversial topic is the use of combined oral contraception (COC) in women with migraine with aura - it is contraindicated, but for headaches associated with the menstrual cycle, there is a chance of improvement, especially with the 28/0 regimen. This review assessed differences in the effects of substances contained in COC. Tablets containing ethinylestradiol in combination with drospirenone, levonorgestrel, desogestrel, chlormadinone acetate, dienogest, or lynestrenol were compared. The effects of different drug doses on body mass index (BMI), blood pressure, and the severity of adverse effects in women were considered. An individualized approach to patients is important to select COCs appropriate for the condition and at the same time minimize adverse effects, thereby improving quality of life. The progress in the development of newer COCs, such as an estetrol-containing pill with drospirenone, is promising as well.

Polycystic ovary syndrome (PCOS) is a lifelong endocrine-metabolic condition with prominent dermatologic manifestations such as hirsutism, acne/seborrhea, and female pattern hair loss (FPHL), which are frequently the initial complaint for seeking medical attention.

PURPOSE: Polycystic ovary syndrome (PCOS) presents psychological challenges in women due to persistent symptoms such as hirsutism, irregular menstruation, and weight gain, and long-term complications like infertility. Women with PCOS face higher risks of depression, anxiety, body image dissatisfaction, and social challenges. Research often overlooks the psychological burden of PCOS, despite its documented effects. This systematic review aims to explore the lived psychological experiences of women with PCOS, encompassing mental health challenges, emotional well-being, and psychosocial factors. It also aims to identify sociocultural variations in psychosocial challenges. METHODS: A systematic search was conducted across six bibliographic databases (MEDLINE, Web of Science, Cochrane, CINAHL, PubMed, and SCOPUS) from inception to April 2024. Qualitative and mixed-methods studies in English exploring the psychological experiences of women with PCOS were included. Study quality was assessed using the Joanna Briggs Institute Qualitative Assessment and Review Instrument (JBI-QARI), and findings were synthesized using a JBI-guided pragmatic meta-aggregation approach. RESULTS: A total of 43 studies were included, yielding 240 unequivocal findings and 46 credible findings which were meta-aggregated into two themes: (1) Mental Health Challenges associated with PCOS (2) Psychosocial Challenges associated with PCOS. CONCLUSION: Depression, anxiety, body image dissatisfaction, and social stigma significantly impact women with PCOS. Hirsutism and being overweight are prominent stressors, particularly affecting psychological well-being in this group. Sociocultural factors play a role in shaping psychological experiences. Effective PCOS care requires mental health support, fertility counselling, and culturally sensitive interventions to improve health outcomes.

Facial hair in women generally is considered to be unwanted. The presence of facial hair in women and its associated conditions, treatmens options, and management strategies are not commonly discussed in most medical care settings. The United States military, which includes more than 220,000 active-duty female service members, has strict and specific grooming standards, which for many years have been a hot topic focused primarily on male service members. Facial hair in women is not addressed in military grooming standards across the services, but one can postulate that the expectation is for women not to have facial hair and to adhere to grooming standards. Women can be impacted considerably by pseudofolliculitis barbae (PFB) as well as hirsutism and its many causes. This comprehensive review discusses management options for women with facial hair in the military; however, the treatment options addressed also are applicable to civilians. Given the psychosocial implications and the variety of treatment options available, it is crucial for health care practitioners to be aware of the diagnosis and management of this common medical condition and its social implications.

PURPOSE: To characterize the clinical, biochemical, radiological, and histological features of benign androgen-producing adrenal tumors in adults. METHODS: Systematic review of published case reports and case series. A systematic search of PubMed, Web of Science, and Scopus was conducted for studies published between 1980 and 2024. Eligible cases included adults (≥ 19 years) with histologically confirmed benign adrenal tumors, biochemical evidence of androgen excess with postoperative normalization, and available individual patient data. Extracted variables included demographics, clinical signs, hormonal values, imaging, and histopathology. RESULTS: Ninety-seven cases from 81 publications fulfilled inclusion criteria. Most were women (96/97), with a mean age of 42.1 years. Hirsutism (87.5%) and clitoromegaly (55.2%) were the most common features, though a minority of tumors were discovered incidentally, often in postmenopausal women. While most tumors were unilateral adenomas, 18% showed alternative histologies, including oncocytomas and ganglioneuromas. Total testosterone was elevated in 93.4% of women, DHEAS in 69.4%; combined assessment achieved 100% sensitivity. However, 25.9% of cases did not exceed thresholds commonly used to suggest tumoral hyperandrogenism (7 nmol/L for testosterone, 18.5 µmol/L for DHEAS), highlighting a risk of underdiagnosis. A paradoxical androgen rise after dexamethasone was observed in ~ 30% of tested cases. Cortisol co-secretion was present in 28% of cases. CONCLUSION: Benign androgen-producing adrenal tumors are rare but clinically significant. They predominantly affect women and may present with subtle or atypical findings, or be discovered incidentally. Reliance on strict hormonal cut-offs may overlook some cases. Broader biochemical assessment and clinical suspicion are crucial to ensure accurate diagnosis.