The prolactin receptor gene (PRLR) may contribute to polycystic ovarian syndrome (PCOS) since it plays important roles in physiological ovarian functions. PRLR-knockout mice have irregular cycles and subfertility and variants in or around the PRLR gene were associated in humans with female testosterone levels and recurrent miscarriage. We tested 40 variants in the PRLR gene in 212 Italian families phenotyped by type 2 diabetes (T2D) and PCOS and found two intronic PRLR-variants (rs13436213 and rs1604428) significantly linked to and/or associated with the risk of PCOS. This is the first study to report PRLR as a novel risk gene in PCOS. Functional studies are needed to confirm these results.

BACKGROUND: Acromegaly is a disease of growth hormone excess that results in enlargement of extremities, abnormal glucose and lipid metabolism, and gonadal disruption. Manifestations of the disease are insidious and typically lead to a diagnostic delay of 7-10 years. Classically the polycystic ovary syndrome (PCOS) phenotype is described in women with irregular menses, clinical or biochemical evidence of androgen excess, and/or multiple ovarian follicles on pelvic ultrasonography. Women with acromegaly may present with some or all of these symptoms. Our objective was to evaluate the prevalence of PCOS in patients with acromegaly and to determine if diagnosis of PCOS results in a delay in diagnosing acromegaly.
METHODS: Using patient databases at two academic health centers, we identified 97 premenopausal women aged 18-49 years old presenting with acromegaly. Data were collected regarding pelvic sonography and reproductive history, including the diagnosis of PCOS. Patients carrying the diagnosis of PCOS before their diagnosis of acromegaly were identified and the remaining patients were screened using the Rotterdam criteria to identify additional patients meeting the criteria for PCOS prior to their diagnosis of acromegaly.
RESULTS: Mean age of the population (n = 97) at the time of diagnosis of acromegaly was 33.4 ± 7.5 years (SD). Thirty-three percent of patients (n = 32) either carried a diagnosis of PCOS or met diagnostic criteria for PCOS before their diagnosis of acromegaly. In the subset of patients in whom data on symptom onset were available, those who met criteria for PCOS were diagnosed with acromegaly a median of 5 years [4, 9] after the onset of symptoms compared to 2 years [0.92, 3] (p =  0.006) in the patients who did not meet criteria for PCOS.
CONCLUSIONS: Our data demonstrate a high prevalence of signs and symptoms of PCOS in reproductive-aged women with acromegaly and a longer time to diagnosis in women who meet the clinical criteria for PCOS. As screening for acromegaly is relatively simple and done with measurement of a random, non-fasting IGF-1 level that can be drawn at any time during the menstrual cycle, screening patients with PCOS for acromegaly may lessen the delay in diagnosis for reproductive-aged women with this disease.

We aimed to evaluate the relationship between cumulative endogenous estrogen exposure and fracture risk in 150,682 postmenopausal women (aged 50 to 79 years at baseline) who participated in the Women\'s Health Initiative. We hypothesized that characteristics indicating lower cumulative endogenous estrogen exposure would be associated with increased fracture risk. We determined ages at menarche and menopause as well as history of irregular menses from baseline questionnaires and calculated years of endogenous estrogen exposure from ages at menarche and menopause. Incident clinical fractures were self-reported over an average 16.7 years of follow-up. We used multivariable proportional hazards models to assess the associations between the estrogen-related variables and incidence of any clinical fracture. In fully adjusted models, those with the fewest years of endogenous estrogen exposure (<30) had an 11% higher risk of developing central body fractures and a 9% higher risk of lower extremity fractures than women with 36 to 40 years of endogenous estrogen exposure (the reference category). In contrast, women with the most years of endogenous estrogen exposure (more than 45 years) had a 9% lower risk of lower extremity fractures than the reference category. Women with irregular (not monthly) menstrual cycles were 7% to 8% more likely to experience lower extremity fractures than women with regular monthly cycles. Our findings support the hypothesis that characteristics signifying lower cumulative endogenous estrogen exposure are associated with higher fracture risk. © 2022 American Society for Bone and Mineral Research (ASBMR).

BACKGROUND: The modified Ferriman-Gallwey (mFG) diagram for scoring hirsutism uses images with traditionally Eurocentric feminine features. No reports have documented its utility in patients with other gender identities.
METHODS: A 16-year-old non-binary masculine patient, sex assigned female at birth, was seen for hyperandrogenism and irregular menses. They declined an exam citing body dysphoria, and declined self-documenting on the mFG diagram, expressing anxiety with gendered images. We subsequently developed a novel, gender-inclusive mFG diagram, which the patient was then comfortable using to document their hair pattern.
CONCLUSIONS: This case documents how the binary gendered characteristics of the mFG diagram can impact the care of patients. As gender expression is highly individual, we created the first gender-inclusive version of the mFG diagram to enhance care for all patients.

BACKGROUND: Endometrial stromal tumors originate from the endometrial stroma and account for < 2% of all uterine tumors. Uterine tumor resembling an ovarian sex cord tumor (UTROSCT) is a rare histological class of endometrial stromal and related tumors according to the latest World Health Organization classification of female genital tumors. Here, we report a case of UTROSCT in a 51-year-old woman.
METHODS: A 51-year-old woman had irregular menses for 6 mo. The patient visited a local hospital for vaginal bleeding. Pelvic computed tomography (CT) showed a mass in the pelvic cavity. Five days later, she came to our hospital for further diagnosis. The results of contrast-enhanced CT and pelvic ultrasound at our hospital suggested a malignant pelvic tumor. She then underwent total removal of the uterus with bilateral salpingectomy. Postoperative histological examination showed that the tumor cells had abundant cytoplasm, ovoid and spindle-shaped nuclei, fine chromatin, a high nucleoplasm ratio, and a lamellar distribution. The findings were consistent with UTROSCT, and the results of immunohistochemical analysis supported that diagnosis. The tumor was International Federation of Gynecology and Obstetrics stage IB. No adjuvant therapy was administered after radical surgery. The patient was followed up for 58 mo, and no recurrence was found.
CONCLUSIONS: We report a case of UTROSCT with abnormal menstruation as a symptom, which is one of the most common symptoms. In patients with vaginal bleeding, ultrasonography can be used as a screening test because of its convenience, speed, and lack of radiation exposure. For patients with long-term tamoxifen use, routine monitoring of the endometrium is recommended. As UTROSCT may have low malignant potential, surgery remains the primary management strategy. Additionally, fertility preservation in patients of childbearing age is a vital consideration.

OBJECTIVE: Polycystic ovary syndrome (PCOS) can be challenging to diagnose in adolescents because the diagnostic criteria for adult women overlap with normal features of pubertal development. Previous studies have highlighted inconsistencies in diagnostic criteria used by health care providers. International consensus groups have introduced recommendations to aid diagnosis of this disorder among adolescents. In this study we explored diagnostic inconsistencies and provided education for providers regarding these consensus recommendations.
METHODS: Quality improvement.
METHODS: Teaching hospital-affiliated adolescent medicine clinic.
METHODS: Adolescent medicine providers (n = 14) participated in the intervention.
METHODS: Educational intervention on the basis of the 2015 international consensus recommendations was implemented to address provider inconsistencies.
METHODS: Use of laboratory assessment and documentation for diagnosis of girls evaluated for possible PCOS.
RESULTS: Preintervention, providers used diverse diagnostic criteria including obesity, insulin resistance, mild acne, and minimal hirsutism with no reference to published criteria. Laboratory studies to exclude other disorders were obtained in 24/87 (28%) preintervention patients. Postintervention, the percentage of laboratory studies increased to 40/65 (62%). Oral glucose tolerance tests performed to assess for glycemic comorbidities increased from 6/87 (7%) to 16/65 (25%). After this intervention, providers included more documentation of features associated with PCOS yet did not use \"at risk for PCOS\" terminology.
CONCLUSIONS: After our educational intervention, providers showed greater awareness of diagnostic criteria for PCOS in adolescent girls. Medical record documentation and use of \"at risk for PCOS\" terminology needs improvement. Integration of specific PCOS templates in the electronic medical record might improve medical record documentation and appropriate diagnosis.

Epidemiologic studies of polycystic ovary syndrome (PCOS) are limited, especially in populations where diagnostic resources are less available. In these settings, an accurate, low-cost screening tool would be invaluable.
To test the use of a simple questionnaire to identify women at increased risk for PCOS and androgen excess (AE) disorders.
Prospective cohort study from 2006-2010.
Community-based.
Women aged 14 to 45 years.
A screening telephone questionnaire consisting of 3 questions was tested, where participants were asked to self-assess the presence/absence of male-like hair and menstrual irregularity. Participants were then invited to undergo a direct examination, including completing a medical history and undergoing a modified Ferriman-Gallwey (mFG) hirsutism score, ovarian ultrasound, and measurement of circulating total and free testosterone, DHEAS, TSH, prolactin and 17-hydroxyprogesterone levels.
Accuracy of questionnaire in predicting PCOS, AE, and irregular menses.
Participants with self-assessed irregular menses and/or excess hair were labeled \"Possible Androgen Excess (Poss-AE)\" and those self-assessed with regular menses and no excess hair were labeled \"Probable Non-Androgen Excess (Non-AE).\" The study was completed in 206/298 (69%) of the Poss-AE and in 139/192 (73%) of the Non-AE. Of Poss-AE and Non-AE subjects, 82.5% and 15.8%, respextively, presented with PCOS. The calculated sensitivity, specificity, positive predictive value, and negative predictive value of the 3-question telephone survey to predict PCOS was 89%, 78%, 85%, and 83%, respectively.
A simple telephone questionnaire, based on self-assessment of body hair and menstrual status, can be used with a high predictive value to identify women at risk for AE disorders, including PCOS, and to detect healthy controls. This approach could be an important tool for needed epidemiologic studies.

BACKGROUND: A mild degree of clitoromegaly can be associated with patients with polycystic ovarian syndrome (PCOS). We describe an unusually significant clitoromegaly in a patient with PCOS.
METHODS: An 18-year-old nonobese female patient was referred for clitoromegaly. Her genitalia exam showed significant clitoral enlargement with a well-formed glans, clitoris measured at 35 mm for length and 10 mm for width. Pelvic ultrasound showed a left ovarian cyst. Her testosterone level ranged from 28.8 to 64.1 ng/dL (normal: 8.4-48.1 ng/dL) with normal sex hormone binding globulin. Other ovarian hormones were in acceptable ranges.
CONCLUSIONS: This case demonstrates the coexistence of significant clitoromegaly, PCOS, and nonfunctioning ovarian cyst.

Accumulating evidence suggests that food customs are associated with quality of life in women of the reproductive age. In Japan, dietary limitation for cosmetic purposes, skipping food intake, intake of processed foods and the shift from Japanese to Westernized style food have increased among young women. These changes in food habits can cause inadequate intake of calories, micronutrients, unsaturated fat, phytestrogens and fiber as well as increasing environmental toxins. Furthermore, these food habits increase risk as a result of intake of food additives, anti-oxidants, processing agents and sweeteners, which have been demonstrated to be harmful to human health. These factors are speculated to not only influence the present lifestyle, but also to induce gynecologic disorders such as dysmenorrhea and irregular menstruation. The adverse effects of these dietary habits on pregnancy outcome and carcinogenesis of breast and ovarian cancers have also been demonstrated. In addition, latent development of organic diseases such as endometriosis, which are accompanied by dysmenorrhea, is a concern under the current nutritional environment in young women. Thus, it is an urgent issue to evaluate the present situation of eating habits in young Japanese women and estimate the influence of these habits on the quality of life including reproductive functions. (Reprod Med Biol 2004; 3: 107-114).

Polycystic ovary syndrome (PCOS) is a familial heterogeneous disorder affecting 6% to 10% of reproductive-age women. The use of criteria developed for adult women is problematic for the adolescent girl because the clinical features associated with PCOS are normal pubertal events. The recent consensus statement on PCOS in adolescents stated that hyperandrogenism and oligomenorrhea need to persist for at least 2 years to consider the diagnosis of PCOS. Although insulin resistance, hyperinsulinism, and obesity are often associated with PCOS, these features are not considered valid diagnostic criteria. Recent genomewide association studies implicate genetic loci involved in the hypothalamic-pituitary-ovarian axis.