Imaging features, clinical characteristics and neonatal outcomes of pregnancy luteoma: A case series and literature review.

INTRODUCTION: This study aimed to investigate the imaging features, clinical characteristics and neonatal outcomes of pregnancy luteoma. MATERIAL AND METHODS: We retrospectively analyzed patients with pregnancy luteoma admitted to the First Affiliated Hospital of Sun Yat-sen University between January 2003 and December 2022. We recorded their imaging features, clinical characteristics and neonatal outcomes. Additionally, we reviewed relevant studies in the field. RESULTS: In total, 127 cases were identified, including eight from our hospital and 119 from the literature. Most patients (93/127, 73.23%) were of reproductive age, 20-40 years old, and 66% were parous. Maternal hirsutism or virilization (such as deepening voice, acne, facial hair growth and clitoromegaly) was observed in 29.92% (38/127), whereas 59.06% of patients (75/127) were asymptomatic. Abdominal pain was reported in 13 patients due to compression, torsion or combined ectopic pregnancy. The pregnancy luteomas, primarily discovered during the third trimester (79/106, 74.53%), varied in size ranging from 10 mm to 20 cm in diameter. Seventy-five cases were incidentally detected during cesarean section or postpartum tubal ligation, and 39 were identified through imaging or physical examination during pregnancy. Approximately 26.61% of patients had bilateral lesions. The majority of pregnancy luteomas were solid and well-defined (94/107, 87.85%), with 43.06% (31/72) displaying multiple solid and well-circumscribed nodules. Elevated serum androgen levels (reaching values between 1.24 and 1529 times greater than normal values for term gestation) were observed in patients with hirsutism or virilization, with a larger lesion diameter (P < 0.001) and a higher prevalence of bilateral lesions (P < 0.001). Among the female infants born to masculinized mothers, 68.18% (15/22) were virilized. Information of imaging features was complete in 22 cases. Ultrasonography revealed well-demarcated hypoechoic solid masses with rich blood supply in 12 of 19 cases (63.16%). Nine patients underwent magnetic resonance imaging (MRI) or computed tomography (CT), and six exhibited solid masses, including three with multi-nodular solid masses. CONCLUSIONS: Pregnancy luteomas mainly manifest as well-defined, hypoechoic and hypervascular solid masses. MRI and CT are superior to ultrasonography in displaying the imaging features of multiple nodules. Maternal masculinization and solid masses with multiple nodules on imaging may help diagnose this rare disease.

Fifteen-minute consultation: Approach to the adolescent presenting with hirsutism.

Hirsutism, unwanted terminal hair growth in androgen-dependent areas, is a common presentation to general paediatricians, dermatologists and endocrinologists. Polycystic ovarian syndrome is the most common cause but can be challenging to diagnose in young people due to the significant overlap of features with the healthy adolescent population. There are other rare, but important, causes to consider such as non-classic congenital adrenal hyperplasia and androgen-secreting tumours. Hirsutism carries a significant psychological burden for those living with it. This 15 min consultation piece describes the causes of hirsutism, introduces a novel assessment tool and suggests an approach to investigations and management, including signposting to psychological support.

Androgen Excess and Deficiency: Analytical and Diagnostic Approaches.

BACKGROUND: Androgens are synthesized from cholesterol through sequential conversions by enzymes in the adrenal glands and gonads. Serum levels of androgens change during the different phases of life and regulate important developmental and maturational processes. Androgen excess or deficiency can therefore present at various ages in various ways. CONTENT: The diagnostic approach for atypical genitalia, premature pubarche, delayed pubertal onset or progression, and hirsutism or virilization, including measurement of androgens (testosterone, androstenedione, 17-OHprogesterone, dehydroepiandrosterone, and dihydrotestosterone) is discussed in the current review. Androgens can be measured in serum, saliva, urine, or dried blood spots. Techniques to measure androgens, including immunoassays and LC-MS, have their own advantages and pitfalls. In addition, pre- and postanalytical issues are important when measuring androgens. SUMMARY: During clinical interpretation of androgen measurements, it is important to take preanalytical circumstances, such as time of blood withdrawal, into account. As immunoassays have major drawbacks, especially in samples from women and neonates, concentrations measured using these assays should be interpreted with care. Reference intervals can only be used in relation to the measurement technique and the standardization of the assay. In the near future, new androgens will probably be added to the current repertoire to further improve the diagnosis and follow-up of androgen excess or deficiency.

Hyperandrogenism caused by a rare adrenocortical oncocytic neoplasm with uncertain malignant potential: a case report and review of the literature.

Hyperandrogenism is a state of androgen excess that can induce hirsutism and oligo/amenorrhea in women of reproductive age. Therapeutic strategies differ according to etiology. Hence, the differential diagnosis of hyperandrogenism is crucial. The adrenal gland is an important organ that produces androgens. One common cause of hyperandrogenism is androgen-secreting adrenal tumors; however, adrenocortical oncocytic neoplasms (ACONs) are rare. A 23-year-old woman presented with severe hirsutism and menstrual disorders for 2 years. Her Ferriman-Gallway hirsutism score was 15 at her first consultation. Her menstrual cycles were irregular, and her menstrual flow had diminished gradually over the past 2 years. She had a remarkable elevation of total testosterone, dehydroepiandrosterone sulfate and androstenedione. Pelvic ultrasonography showed normal morphology of the uterus and bilateral ovaries. Computed tomography revealed a giant left adrenal tumor with a diameter of 12 cm. The patient then underwent robotic-assisted adrenal tumor resection. Histopathological assessment indicated adrenocortical oncocytic neoplasm with uncertain malignant potential. After 4 years of follow-up, no recurrence of symptoms was noted, and this patient delivered a healthy infant on her due date in October 2021. This article reviews the clinical features, diagnosis, and treatment of ACONs and highlights the importance of differential diagnosis for hyperandrogenism in women.

Guideline No. 444: Hirsutism: Evaluation and Treatment.

OBJECTIVE: This guideline reviews the etiology, diagnosis, evaluation, and treatment of hirsutism. TARGET POPULATION: Women with hirsutism. OPTIONS: Three approaches to management include: 1) mechanical hair removal; 2) suppression of androgen production; and 3) androgen receptor blockade. OUTCOMES: The main limitations of the management options include the adverse effects, costs, and duration of treatment. BENEFITS, HARMS, AND COSTS: Implementation of the recommendations in this guideline may improve the management of hirsutism in women with this condition. Adverse effects and a potential long duration of treatment are the main drawbacks to initiating treatment, as is the possibility of significant financial costs for certain treatments. EVIDENCE: A comprehensive literature review was updated to April 2022, following the same methods as for the prior Society of Obstetricians and Gynaecologists of Canada (SOGC) Hirsutism guidelines. Results were restricted to systematic reviews, randomized controlled trials, controlled clinical trials, and observational studies. There were no date limits, but results were limited to English- or French-language materials. VALIDATION METHODS: The authors rated the quality of evidence and strength of recommendations using the modified Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach, along with the option of designating a recommendation as a "good practice point." See online Appendix A (Tables A1 for definitions and A2 for interpretations of strong and conditional [weak] recommendations). INTENDED AUDIENCE: Primary care providers, family medicine physicians, obstetricians and gynaecologists, reproductive endocrinologists and others who manage the care of patients with hirsutism. TWEETABLE ABSTRACT: Management of hirsutism involves a 3-pronged approach of mechanical hair removal, suppression of androgen production, and androgen receptor blockade. SUMMARY STATEMENTS: RECOMMENDATIONS.

Polycystic Ovary Syndrome: Common Questions and Answers.

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of childbearing age. Its complex pathophysiology includes genetic and environmental factors that contribute to insulin resistance in patients with this disease. The diagnosis of PCOS is primarily clinical, based on the presence of at least two of the three Rotterdam criteria: oligoanovulation, hyperandrogenism, and polycystic ovaries on ultrasonography. PCOS is often associated with hirsutism, acne, anovulatory menstruation, dysglycemia, dyslipidemia, obesity, and increased risk of cardiovascular disease and hormone-sensitive malignancies (e.g., at least a twofold increased risk of endometrial cancer). Lifestyle modification, including caloric restriction and increased physical activity, is the foundation of therapy. Subsequent management decisions depend on the patient's desire for pregnancy. In patients who do not want to become pregnant, oral contraceptives are first-line therapy for menstrual irregularities and dermatologic complications such as hirsutism and acne. Antiandrogens such as spironolactone are often added to oral contraceptives as second-line agents. In patients who want to become pregnant, first-line therapy is letrozole for ovulation induction. Metformin added to lifestyle management is first-line therapy for patients with metabolic complications such as insulin resistance. Patients with PCOS are at increased risk of depression and obstructive sleep apnea, and screening is recommended.

Approach to androgen excess in women: Clinical and biochemical insights.

Androgen excess in women typically presents clinically with hirsutism, acne or androgenic alopecia. In the vast majority of cases, the underlying aetiology is polycystic ovary syndrome (PCOS), a common chronic condition that affects up to 10% of all women. Identification of women with non-PCOS pathology within large cohorts of patients presenting with androgen excess represents a diagnostic challenge for the endocrinologist, and rare pathology including nonclassic congenital adrenal hyperplasia, severe insulin resistance syndromes, Cushing's disease or androgen-secreting tumours of the ovary or adrenal gland may be missed in the absence of a pragmatic screening approach. Detailed clinical history, physical examination and biochemical phenotyping are critical in risk-stratifying women who are at the highest risk of non-PCOS disorders. Red flag features such as rapid onset symptoms, overt virilization, postmenopausal onset or severe biochemical disturbances should prompt investigations for underlying neoplastic pathology, including dynamic testing and imaging where appropriate. This review will outline a proposed diagnostic approach to androgen excess in women, including an introduction to androgen metabolism and provision of a suggested algorithmic strategy to identify non-PCOS pathology according to clinical and biochemical phenotype.

Regional variability of modified Ferriman-Gallwey scorring in premenopausal healthy women in Southern Turkey.

ObjectiveAlthough modified Ferriman-Gallwey (mF-G) scorring has been the gold standard for assessing hirsutism, also known that this scorring could show variability according to ethnicity. Hence, false positive hirsutism diagnosis and unnecessary anti-androgen therapy can prescribed. It was aimed to disclose the regional characteristics of this scorring in healthy women living in Southern Turkey.Methods360 women between 18 and 50 years of age were randomly screened. Their medical history, including ovulation periods, gestation(s), family history, known drug use was obtained. Physical examination with mF-G scoring and serum hormone measurements were performed. Women with hirsutism who scored ≥ 8 were further investigated for any underlying disease or cause of hirsutism. After these investigations, the women were divided into three groups according to the mF-G ≥ 8 score and evaluated. Group A (n = 59) had an mF-G ≥ 8 and, revealed an underlying disease causing hirsutism; group B (n = 42) had an mF-G ≥ 8, but no underlying disease responsible for hirsutism; and the third group (Group C, n = 259) had an mF-G ≤ 8 and thus, no signs of hirsutism.ResultsThe mean mF-G scores of three groups were 12.78 ± 4.4, 11.48 ± 4.6, and 5.53 ± 3.4, respectively. Of the 59 (16.1%) women in Group A, 46 (44.2%) were diagnosed as polycystic ovary syndrome (PCOS), 8 (7.7%) had idiopathic hyperandrogenism, 7 (6.7%) had nonclassic congenital adrenal hyperplasia, and 1 (1%) had a prolactinoma. When compared to group B, group A women had significantly decreased fertility (p = .001) and menstrual irregularities (p = .001).ConclusionsIn this study, results revealed a significant rate of healthy women (11.6%) who had an mF-G ≥ 8, but no underlying disease causing hirsutism yet were considered hirsute according to their mF-G cutoff. Also, the majority of the studied women (71.9%) living in Southern Turkey were found to have a hair-pattern similar to the European Women. Therefore, we suggest that regional and ethnical body-hair patterns should be considered before prescribing anti-androgen therapy.

Hirsutism and Quality of Life of Women in Tertiary Care Center in Eastern Nepal.

Background Hirsutism is excess terminal hair growth in women at androgen-dependent sites of the body and it has great impact on psychological and social aspects of their lives, thus affecting their quality of life (QoL). Several studies assessing the quality of life in hirsute women could be found in world literature but none in Nepalese literature. So, this study was undertaken for the assessment of the impact of hirsutism on the quality of life in Nepalese women. Objective To assess the effect of hirsutism on quality of life of women in a tertiary center of Eastern Nepal and its association with various socio-demographic and clinical parameters. Method A cross-sectional questionnaire-based study was conducted in 49 participants aged 10 to 49 years at the Department of Dermatology, B.P. Koirala Institute of Health Sciences. Clinically diagnosed hirsute females with modified Ferriman-Gallwey (mFG) score > 8, were enrolled and asked to fill Dermatology Life Quality Index (DLQI) questionnaire in the Nepalese version. Result More than 57.2% of the study population was of age 20 to 29 years with a mean of 27.76±8.08 years. The mean Dermatology Life Quality Index score was 7.78±4.95. The moderate effect was seen in the majority of participants (36.7%) with a predominant effect upon aspects of life like daily activities and symptoms and feelings. Participants with higher mF-G score (22.15±3.82) had a very large effect on their quality of life. Younger unmarried women with a school education and having a longer duration of hirsutism were found to have a higher effect upon their quality of life. However, the association was not statistically significant. Conclusion Hirsutism had affected the quality of life moderately with predominant effect upon aspects like daily activities and symptoms and feelings. No significant association was elicited between severity of hirsutism and its effect on quality of life from our study.

A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.

Tel Hashomer camptodactyly syndrome is a long-known entity characterized by camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases. Currently, the genetic basis for this disorder is unknown, thus there is a possibility that this clinical presentation may be contained within another genetic diagnosis. Here, we present a multiplex family with a previous clinical diagnosis of Tel Hashomer camptodactyly syndrome. Whole exome sequencing and pedigree-based analysis revealed a novel hemizygous truncating variant c.269_270dup (p.Phe91Alafs*34) in the FGD1 gene (NM_004463.3) in all three symptomatic patients, congruous with a diagnosis of Aarskog-Scott syndrome. Our report adds to the limited data on Aarskog-Scott syndrome, and emphasizes the importance of unbiased comprehensive molecular testing toward establishing a diagnosis for genetic syndromes with unknown genetic basis.

Comparison of PCOS phenotypes in adolescent and young adult Mediterranean women with possible PCOS.

PURPOSE: During adolescence, PCOS features are supposed to be in evolution. Because of this, the diagnosis of PCOS in adolescence is often unclear and few studies have compared adolescent and adult PCOS phenotype distribution and features. The aim is to compare phenotypes in adolescents and young adults with PCOS. METHODS: 109 girls aged from 13 to 19 years were retrospectively studied. All patients had a gynecological age > 2 years. 63 patients were adolescents (3-5 years beyond menarche) while 46 patients were young adults (6-9 years beyond menarche). Diagnosis of different PCOS phenotypes (A, B, C, D) was made according to the Rotterdam criteria. Clinical data (menstrual cycles, BMI, presence of hirsutism), androgen circulating levels (total testosterone, androstenedione, dehydroepiandrosterone sulphate) and ovarian morphology by ultrasound were assessed. RESULTS: 109 patients presented PCOS according to the Rotterdam criteria. Phenotype A was by far the most common phenotype (73.4%) followed by phenotype B (21.1%). Only few patients had phenotype C (4.6%) or phenotype D (0.9%). When patients were divided in two groups (adolescent and young adult patients), no significant difference in prevalence and features of the different phenotypes was observed. CONCLUSION: In this cohort of adolescent and young adult women with PCOS, the progression of age does not change the prevalence and the features of main PCOS phenotypes. It suggests that the Rotterdam criteria might be used also in adolescents, at least in those with 2 or more years of gynecological age, for the diagnosis of PCOS.

Clinical Presentation and Diagnosis of Polycystic Ovarian Syndrome.

Polycystic ovarian syndrome (PCOS) is a common endocrinopathy with many clinical manifestations. The effects on women's lives start at puberty and can last throughout her lifetime. Women frequently experience anovulatory menstrual cycles, infertility, hirsutism, obesity and increased risk of diabetes mellitus, hypertension, lipid abnormalities, and metabolic syndrome. PCOS is a heterogenous disorder, and a diagnosis of exclusion. In general, women afflicted will have menstrual irregularities, ultrasound findings of abnormal ovarian size and morphology, and clinical or laboratory evidence of hyperandrogenism. This chapter reviews the current understanding of PCOS, associated metabolic abnormalities, and diagnosis in reproductive-aged women, as well as adolescents.

Fifteen-minute consultation: The overweight teenage girl with acne.

Polycystic ovary syndrome (PCOS) is a common endocrine condition which often presents in adolescence. The symptoms and signs, which include obesity, acne, hirsutism and irregular menstrual periods, can have profound psychosocial, metabolic and reproductive consequences. Diagnosis in the adolescent population can be particularly difficult as there is significant overlap between the clinical features of PCOS and those of normal pubertal development. International guidelines published in 2018 have produced diagnostic criteria for adolescents to aid the physician, but there will still be many cases in which diagnostic uncertainty remains. In this article, we present a structured approach to adolescents with symptoms of PCOS, covering clinical assessment, investigation, diagnosis and management. We emphasise that intervention, with lifestyle advice and combined oral contraception should be considered even in the absence of a definitive diagnosis.

Levonorgestrel vs combined oral contraceptive pills in treatment of female acne and hirsutism.

Combined oral contraception was used in many studies for treatment of acne and hirsutism. However, levonorgestrel (LNG) alone has not been evaluated before. Our objective is to evaluate the efficacy of oral contraceptive (OC) pills containing LNG and ethinyl estradiol (EE) compared with LNG only for the treatment of acne and hirsutism in a randomized, controlled prospective clinical trial. Eighty females (20 with acne, 20 with hirsutism, and 40 healthy females) received LNG + EE or LNG only for 6 months. Assessment of acne by global acne grading system (GAGS) and hirsutism by modified Ferriman-Gallwey scale (MFGS) grading system and serum free testosterone was measured before and 6 months after treatment. Serum free testosterone was significantly higher before treatment in acne and hirsutism patients compared to control group (P < .000). In acne patients, after 6 months of treatment with LNG/EE, serum free testosterone, and (GAGS), were significantly decreased compared to LNG only (P < .000). In hirsutism group, after 6 months of treatment with LNG/EE, serum free testosterone and (MFGS), were nonsignificantly decreased compared to LNG only. OCs containing either LNG/EE or LNG seem to be effective and safe treatment for acne and hirsutism.

A novel biochemical marker -OKL38- with its apoptotic and antioxidant properties for the development of PCOS and its related clinical implications.

Aim: To investigate the role of serum OKL38 levels in the development of polycystic ovary syndrome (PCOS) and clinical implications related to PCOS.Method: PCOS (n = 33) and ovulatory controls (n = 48) were recruited for the study. Anthropometric measurements were recorded, and blood samples for hormonal and biochemical parameters including serum OKL38 levels were obtained. The potential role of OKL38 on the development of PCOS, metabolic syndrome and cardiovascular disease (CVD) were investigated. Framingham risk score (FRS) was used for the determination of CVD risk.Results: Mean Ferriman-Gallway (FG) score, insulin, low-density lipoprotein (LDL), total cholesterol (TC) levels, and the homeostasis model assessment of insulin resistance index (HOMA-IR) were significantly increased (p < .05) in women with PCOS compared to controls. PCOS group had lower mean OKL38 level compared to controls (p < .0001) and OKL38 was negatively predictive for the diagnosis of PCOS after adjustment of variables that were significantly different between two groups. A negative association between OKL38 and metabolic syndrome in PCOS women was evident after adjustment for age, obesity, and abdominal obesity. OKL38 level was also negatively correlated with body mass index, waist-to-hip-ratio, fat composition, serum TC, LDL, free testosterone levels, FRS, and FG scores.Conclusion: OKL38 may have a partial role in the etiopathogenesis of PCOS and may protect development of metabolic syndrome and CVD in women with PCOS.

The role and importance of auxiliary tests in differential diagnosis in patients with mildly high basal 17-OH-progesterone levels in the evaluation of hirsutism

Background/aim: In the differential diagnosis of hirsutism, early follicular basal 17-OH-progesterone levels sometimes overlap with the diagnosis of late onset congenital adrenal hyperplasia (LOCAH) and other causes of hyperandrogenism. This study aims to investigate the role of some common tests and clinical findings in differential diagnosis in such cases. Materials and methods: One hundred seventy-five female patients with hirsutism and mildly high initial 17-OH-progesterone levels (2-10 ng/mL) were included in the study. The cases were divided into three groups according to their diagnosis: LOCAH (n = 16, mean age = 26.1 ± 6.9), polycystic ovary syndrome (PCOS) (n = 122, mean age = 23.9 ± 5.1), and intracranial hypertension (IH) (n = 37, mean age = 25.2 ± 7.3). Clinical signs and symptoms, such as menstrual irregularity and hirsutism score, and hormone levels including total testosterone and dehydroepiandrosterone sulfate (DHEAS), were compared between the groups. Results: There was no difference between the groups with PCOS, LOCAH, and IH for total testosterone level results (P = 0.461). The DHEAS level was higher in the PCOS group than in the LOCAH group (449.6 ± 151.14 vs. 360.31 ± 152.40, P = 0.044). While there was no difference between the PCOS and LOCAH groups in terms of menstrual irregularity (P = 0.316), the hirsutism score for IH was significantly lower than those of PCOS and LOCAH (9.2 vs. 12.2 and 11.1, respectively; P < 0.001). Basal 17-OH-progesterone levels were higher in the LOCAH group than in the other groups (P = 0.016). Conclusion: While DHEAS level was lower in LOCAH than in PCOS, it was not different from that in IH. While the severity of hirsutism was higher in LOCAH than in IH, it was not different from that in PCOS. Menstrual irregularity was similar between PCOS and LOCAH. According to these results, although the auxiliary tests and clinical findings for the diagnosis of LOCAH contribute to the clinical interpretation, they are not superior to the 17-OH-progesterone level for diagnosis.

Androgens in women: Androgen-mediated skin disease and patient evaluation.

Androgens are produced throughout the body in steroid-producing organs, such as the adrenal glands and ovaries, and in other tissues, like the skin. Several androgens are found normally in women, including dehydroepiandrosterone, dehydroepiandrosterone-sulfate, testosterone, dihydrotestosterone, and androstenedione. These androgens are essential in the development of several common cutaneous conditions in women, including acne, hirsutism, and female pattern hair loss (FPHL)-androgen-mediated cutaneous disorders (AMCDs). However, the role of androgens in the pathophysiology of these diseases is complicated and incompletely understood. In the first article in this Continuing Medical Education series, we discuss the role of the skin in androgen production and the impact of androgens on the skin in women. Specifically, we review the necessary but insufficient role that androgens play in the development of acne, hirsutism, and FPHL in women. Dermatologists face the challenge of differentiating physiologic from pathologic presentations of AMCDs in women. There are currently no dermatology guidelines outlining the indications for endocrinologic evaluation in women presenting with acne, hirsutism, or FPHL. We review the available evidence regarding when to consider an endocrinologic workup in women presenting with AMCDs, including the appropriate type and timing of testing.

Comprehensive genotyping of Turkish women with hirsutism.

INTRODUCTION: Hirsutism is a medical sign rather than a disease affects 5-8% of women of reproductive age. Hirsutism is associated with hyperandrogenemia in most patients excluding those with idiopathic hirsutism (IH). The most common cause of hirsutism is polycystic ovary syndrome (PCOS) followed by IH and idiopathic hyperandrogenemia (IHA); however, the clinical presentation of non-classical congenital adrenal hyperplasia (NCAH) in females is often indistinguishable from other hyperandrogenic disorders with common clinical signs such as hirsutism. OBJECTIVE: The primary aim of the study is to examine the physical properties of the three genes and to make a detailed comparison of the mutations with the clinical data to contribute the etiology of hirsutism. SUBJECTS AND METHODS: 122 women admitted to the Endocrinology Clinic at Erciyes University Hospital with hirsutism were enrolled in the study between 2013-2014. All the participants were clinically evaluated. Protein-encoding exons, exon-intron boundaries of CYP21A2 (including proximal promoter), CYP11B1 and HSD3B2 genes were analyzed via state-of-the-art genetic studies. RESULTS: DNA sequencing analyses revealed two homozygous and three compound heterozygous 21-hydroxylase deficient (21OHD) NCAH patients. Additionally, three novel CYP21A2 mutations (A89V, M187I and G491S) and two novel CYP11B1 mutations (V188I and G87A) were determined. The frequencies of heterozygous mutations in CYP21A2 (including promoter), CYP11B1 and HSD3B2 genes were determined as 26.5% (15% coding region, 11.5% promoter), 11.5% and 0%, respectively. CONCLUSION: 21OHD-NCAH prevalence was determined to be ~4%. Unexpectedly, high heterozygous mutation rates were observed in CYP11B1 gene and CYP21A2 promoter region. CYP11B1 and HSD3B2 deficiencies were not prevalent in Turkish women with hirsutism despite the existence of higher heterozygous mutation rate in CYP11B1.

Hirsutism in Women.

Hirsutism is the excessive growth of terminal hair in a typical male pattern in a female. It is often a sign of excessive androgen levels. Although many conditions can lead to hirsutism, polycystic ovary syndrome and idiopathic hyperandrogenism account for more than 85% of cases. Less common causes include idiopathic hirsutism, nonclassic congenital adrenal hyperplasia, androgen-secreting tumors, medications, hyperprolactinemia, thyroid disorders, and Cushing syndrome. Women with an abnormal hirsutism score based on the Ferriman-Gallwey scoring system should be evaluated for elevated androgen levels. Women with rapid onset of hirsutism over a few months or signs of virilization are at high risk of having an androgen-secreting tumor. Hirsutism may be treated with pharmacologic agents and/or hair removal. Recommended pharmacologic therapies include combined oral contraceptives, finasteride, spironolactone, and topical eflornithine. Because of the length of the hair growth cycle, therapies should be tried for at least six months before switching treatments. Hair removal methods such as shaving, waxing, and plucking may be effective, but their effects are temporary. Photoepilation and electrolysis are somewhat effective for long-term hair removal but are expensive.