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.

Polycystic ovary syndrome (PCOS) is the most common endocrine irregularity in people who are assigned-female-at-birth and are of reproductive age. PCOS causes infertility, irregular periods and hirsutism. Cis women with PCOS describe these symptoms as 'masculinising,' which makes them feel inauthentic as women. However, trans and nonbinary people with PCOS may desire a more masculine appearance, but little attention has been given to how these people may experience PCOS. Using Apify, we collected 450 posts from three popular PCOS Reddit communities. We examined titles, posts, and comments for discussions of gender identity and expression. A total of 60 posts with 3889 comments were selected for analysis. We find that, despite broad literature that characterises illnesses as disruptive to one's self, trans and nonbinary people often view PCOS favourably. We propose two theoretical frameworks to better capture their experiences: biographical discovery, where PCOS is a catalyst for self-discovery, and biographical affirmation, where symptoms validate their sense of self and ease gender expression. We also discuss how these users experience biographical disruption. These findings elucidate the ways that social identities shape perception of bodily changes as a result of chronic illness and highlight the need for an embodied approach within medical sociology.

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.

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.

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.

A striking characteristic that sets modern humans apart from their ancestors is the lack of a thick fur coat. Despite being popularly dubbed 'the naked ape', humans are covered in 2-3 million vellus hair follicles producing tiny hair fibres. This review explores why humans evolved thinner body hair, with a focus on the need for an effective cooling mechanism. We address anthropological evidence and traits that developed in parallel with humans losing their fur. We then discuss the differences between thick terminal hairs and thin vellus hairs, and the role of the dermal papilla in the regulation of hair fibre thickness. Taking inspiration from genes involved in hirsutism, hypertrichosis and hair thickness, and expression of these genes in the dermal papilla, we propose a linear switch regulator hypothesis of how humans have evolved to not develop terminal hair on their bodies.

A postmenopausal woman in her 50s presented with progressive hirsutism, virilisation and markedly elevated serum testosterone levels (>1500 ng/dL). Routine laboratory, adrenal and imaging evaluations were largely unremarkable except for a small left adnexal mass on MRI. With normal dehydroepiandrosterone sulphate (DHEAS) and cortisol levels, an ovarian source of androgen excess was suspected. The patient underwent total laparoscopic hysterectomy with bilateral salpingo-oophorectomy. Histopathology revealed bilateral Leydig cell tumours, an exceptionally rare finding. Postoperatively, serum testosterone normalised, and virilisation regressed significantly. This case highlights the importance of considering androgen-secreting ovarian tumours in postmenopausal women with rapidly progressive virilisation, even when imaging is inconclusive. Bilateral Leydig cell tumours are exceedingly uncommon but should be suspected when severe hyperandrogenism is present. Surgical removal remains the definitive diagnostic and therapeutic approach, ensuring hormonal normalisation and symptom resolution while preventing prolonged morbidity associated with delayed diagnosis.

Postmenopausal osteoporosis is often accompanied by reduced muscle mass and chronic bone pain, amplifying fracture risk and functional decline. Nandrolone decanoate (ND), a synthetic anabolic steroid, has been proposed as a dual-acting agent that may benefit both bone and muscle through osteoanabolic and myoanabolic mechanisms, yet its therapeutic value in osteoporosis remains uncertain. We conducted a systematic review and meta-analysis of randomized controlled trials comparing ND with placebo in postmenopausal women with primary osteoporosis. The review followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines and was prospectively registered in the International Prospective Register of Systematic Reviews (PROSPERO; CRD420251147647). Seven trials with 293 participants were included, with sample sizes varying by outcome. ND reduced fracture risk compared with placebo (moderate-certainty evidence). It produced modest increases in bone mineral density (BMD; low certainty) and more substantial gains in forearm bone mineral content (BMC; moderate certainty). ND also reduced pain (moderate certainty) and increased muscle mass (moderate certainty). However, ND was associated with a higher incidence of mostly mild virilizing adverse events (hirsutism, acne, voice changes; low certainty). Given the small sample sizes and methodological limitations of older trials, ND may be considered as a potential adjuvant option for selected postmenopausal women, particularly when muscle loss or refractory bone pain is present, provided treatment occurs under close clinical and laboratory monitoring. Larger, contemporary randomized trials are needed to define ND's role within modern osteoporosis management.

Hirsutism is a very common psychologically distressing medical condition. Laser is the commonly used method for the treatment of hirsutism. This study aims to observe the outcome and side effects of Nd:YAG Laser (Neodymium-doped Yttrium Aluminium Garnet laser) in hirsutism. This study was performed at the the department of Dermatology and Venereology, Dhaka Medical College Hospital, Bangladesh from June 2022 to December 2022 in which thirty-eight (38) female patients with facial hirsutism, aged 18-42 years were included and evaluated for the outcome and side effects of Nd:YAG laser with a spot size of 10 mm, fluence range of 18-25 (J/cm²) with pulse duration 25-40 ms for our skin photo type. Starting fluence of 18 (J/cm²) was increased by 10% at each laser session. Results showed that 31(81.6%) patients had excellent response followed by fair 4(10.5%) and 3(5.3%) good with poor 1(2.6%) at the end of 6 session. Short-term erythema was seen in 31.6% of patients, perifollicular oedema in 50.0% and post-inflammatory hyper-pigmentation in 3.0% of patients. The study showed that long pulsed (1064 nm) Nd:YAG laser is a very safe and effective means of hair reduction.

This piece reflects on Frida Kahlo-the iconic Mexican painter whose art and life remain profoundly intertwined-through the lens of endocrinology. In works such as Self-Portrait with Monkey and Parrot, Kahlo presents herself with features suggestive of mild hirsutism, including her distinctive monobrow and faint upper-lip hair. The essay explores how her distinctive features, often interpreted as signs of androgen excess, may instead represent an assertion of cultural identity and aesthetic autonomy.