-
Pediatric Dermatology 2024Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9-year-old boy with congenital generalized...
Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9-year-old boy with congenital generalized hypertrichosis and multiple rhabdomyomatous mesenchymal hamartomas (RMHs) on his nose and periocular region. Next-generation sequencing, performed in DNA from a blood sample, and RMH tissue, revealed a pathogenic variant in the TWIST2 gene, which was not detected in a salivary sample of the patient, nor in his parents. Therefore, we consider this variant as de novo mosaicism. To our knowledge, this is the first case of multiple RMHs associated with BSS.
Topics: Male; Humans; Child; Hypertrichosis; Abnormalities, Multiple; Hirsutism; Hamartoma; Eyelid Diseases; Hypertelorism; Macrostomia; Skin Abnormalities
PubMed: 37817291
DOI: 10.1111/pde.15436 -
Clinical Chemistry Dec 2023Androgens are synthesized from cholesterol through sequential conversions by enzymes in the adrenal glands and gonads. Serum levels of androgens change during the... (Review)
Review
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.
Topics: Infant, Newborn; Female; Humans; Androgens; Testosterone; Androstenedione; Virilism; Hirsutism; Dehydroepiandrosterone
PubMed: 37794651
DOI: 10.1093/clinchem/hvad146 -
European Review For Medical and... Sep 2023There is insufficient data on which cut-off value must be used to measure the increase in total testosterone (TT) compared to the upper limit of normal (CULN) in the...
OBJECTIVE
There is insufficient data on which cut-off value must be used to measure the increase in total testosterone (TT) compared to the upper limit of normal (CULN) in the diagnosis of androgen-secreting tumor (ASTM) in female individuals with premenopausal hirsutism (FIPH).
PATIENTS AND METHODS
A total of 413 FIPH over 18 years of age who were admitted to the endocrinology clinic between May 2013 and 30 April 2018 were eligible for the study. Hormone profiles of the participants in the follicular phase and other information were obtained from their files. The androgen suppression ratio (ASR) was analyzed after 48 hours of low-dose dexamethasone suppression test (LDDST) in those whose TT CULN (nmol/L) increased two-fold.
RESULTS
Idiopathic hirsutism was found in 193 participants (46.73%) and polycystic ovary syndrome (PCOS) in 200 (48.43%) and other sources of hirsutism; non-classical congenital adrenal hyperplasia (NCCAH) in 10 patients (2.42%), hyperprolactinemia in 6 patients (1.45%), ASTM of ovarian origin in 2 patients (0.48%), Cushing's disease in 1 patient (0.24%), and adrenal ASTM in 1 patient (0.24%). A cut-off value of two-fold CULN increase for TT sensitivity of 100% and a specificity of 99.5% in indicating an ASTM source, and ASR above 49% in LDDST sensitivity of 80% and a specificity of 100% in excluding an ASTM source, was used.
CONCLUSIONS
At the TT level, a two-fold increase CULN in FIPH indicates an ASTM source. In addition, ASR after LDDST is a useful parameter in the exclusion of ASTM sources in the same patient population.
Topics: Humans; Female; Adolescent; Adult; Testosterone; Androgens; Hirsutism; Testosterone Congeners; Neoplasms
PubMed: 37782181
DOI: 10.26355/eurrev_202309_33791 -
Acta Obstetricia Et Gynecologica... Apr 2024This study aimed to investigate the imaging features, clinical characteristics and neonatal outcomes of pregnancy luteoma. (Review)
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.
Topics: Adult; Female; Humans; Infant, Newborn; Pregnancy; Young Adult; Cesarean Section; Hirsutism; Luteoma; Ovarian Neoplasms; Retrospective Studies; Virilism
PubMed: 37710408
DOI: 10.1111/aogs.14672 -
Medicine Sep 2023This study goaled to evaluate the ABO/Rh blood group distribution and its relationship with clinical and biochemical factors in polycystic ovary syndrome (PCOS)...
This study goaled to evaluate the ABO/Rh blood group distribution and its relationship with clinical and biochemical factors in polycystic ovary syndrome (PCOS) patients. ABO/Rh blood group distribution of the patients and the healthy individuals were compared. In addition, the features of clinical and biochemical factors were compared according to the ABO/Rh blood groups. Two hundred and sixty-five patients were involved in the study. At the time of diagnosis, hirsutism (86%) and oligomenorrhea (80.9%) were the most prevalent symptoms. There were 166 (62.6%) patients with baseline ultrasonography results consistent with PCOS. In 111 (41.9%) patients, insulin resistance was found. ABO blood group distributions in the patient (42.6% A, 17% B, 9.4% AB, 30.9% O) and control (42% A, 16% B, 8% AB, 34% O) groups were found to be similar (P = .9). There was no difference between oligomenorrhea, hirsutism, hair loss, acne, obesity, high androgen level, insulin resistance, and ultrasound characteristics according to ABO/Rh blood groups. In this study, ABO/Rh blood group distribution in individuals with PCOS was found to be similar to healthy individuals, and it was determined that ABO/Rh blood group was not a risk factor for PCOS. In addition, no correlation was found between the clinical and biochemical characteristics of the patients at the time of diagnosis and the ABO/Rh blood group.
Topics: Female; Humans; Polycystic Ovary Syndrome; Hirsutism; ABO Blood-Group System; Insulin Resistance; Oligomenorrhea; Risk Factors; Rh-Hr Blood-Group System
PubMed: 37682192
DOI: 10.1097/MD.0000000000034944 -
Journal of Women's Health (2002) Nov 2023Polycystic ovary syndrome (PCOS) management has hardly been standardized until recent years. There is an accurate, evidence-based guideline published by the European...
Polycystic ovary syndrome (PCOS) management has hardly been standardized until recent years. There is an accurate, evidence-based guideline published by the European Society of Human Reproduction and Embryology (ESHRE). However, it remains unclear to which extent, if at all, the guideline is followed by health care providers. The aim was to explore the subjectively perceived quality of gynecological medical care in women with PCOS suffering from aesthetic complaints. A nonvalidated questionnaire was constructed in a standardized manner covering the domains: aesthetic aspects, metabolism, menstrual cycle, reproduction, mental health, and prevention of chronic noncommunicable diseases. A total of 1960 participants with aesthetic complaints, such as acne (66.2%), alopecia (43.9%), hirsutism (77.9%), or overweight/obesity (72.3%) were included. The percentage of women being counseled was low (acne 20.3%, alopecia 12.9%, hirsutism 17.5%, overweight/obesity 36.2%). Satisfaction with counseling was moderate (40.4-44.1 points). Many women tried at least one therapeutic method (75.9%), whereas only a few were counseled for therapy (acne 27.0%, alopecia 24.6%, hirsutism 24.0%, overweight/obesity 18.8%) with moderate satisfaction for hyperandrogenism (mean 55.1-59.5 points) and good satisfaction for overweight/obesity (mean 60.8 points). Overall satisfaction was rated with a mean of 30.5 points (standard deviation 27.1) on a scale from 0 to 100 and thus considered "not satisfied." Fewer complaints were significantly correlated with higher satisfaction. Most women wished for more counseling (80.8%), as well as more diagnostic (63.2%) and therapeutic options (70.2%). Women affected by PCOS are not properly managed according to the ESHRE guideline. Indeed, this guideline recommends comprehensive history and physical examination for clinical hyperandrogenism as well as holistic approaches in therapy, including education and counseling of patients. Still, overall consultation rates and satisfaction were poor.
Topics: Female; Humans; Polycystic Ovary Syndrome; Hyperandrogenism; Hirsutism; Cross-Sectional Studies; Overweight; Alopecia; Obesity; Acne Vulgaris
PubMed: 37669004
DOI: 10.1089/jwh.2022.0497 -
European Journal of Pharmaceutical... Nov 2023Oral contraceptives (OCs), insulin sensitizers, and antiandrogens (AAs), alone or in combination, are commonly used for treating non-fertility indications in polycystic... (Meta-Analysis)
Meta-Analysis
Oral contraceptives (OCs), insulin sensitizers, and antiandrogens (AAs), alone or in combination, are commonly used for treating non-fertility indications in polycystic ovary syndrome (PCOS). However, unclear risk-benefit profiles jeopardize their appropriate clinical applications. This study aimed to quantitatively evaluate the effects of the aforementioned medications and to compare their risk-benefit profiles. Randomized controlled trials published until 14th March 2022 were searched in PubMed and Embase. A model-based meta-analysis was developed to examine the time-effect profiles of each medication. The maximal percentage change of the effect (E) and time to achieve half of E (T) were estimated. Primary outcomes included menstruation, hirsutism score, free androgen index (FAI), body mass index (BMI), insulin sensitivity, and lipid profiles. Overall, 200 studies (9,685 patients and 385 arms) were identified for modeling. OCs performed exceptionally well in improving menstruation (E: 149%; T: 7.44 weeks), hirsutism score (E: 66.2%; T: 26.2 weeks), and FAI (E: 75.7%; T: 0.51 weeks). However, OCs elevated the triglyceride (TG) level (E: 12.6%; T:1.19 weeks). After 12-week OC treatment, the TG level of approximately 30% of patients, whose baselines were normal, exceeded the reference limit. This suggested that OC-induced dyslipidemia should be routinely monitored. The maximal BMI-lowering effect of metformin was similar to that of placebo (E: 3.80%); however, metformin had a shorter T (6.67 weeks versus 12.9 weeks). Further, active lifestyle intervention plus placebo significantly decreased BMI (E: 8.78%). Adding metformin to active lifestyle intervention accelerated the BMI-lowering effect within 24 weeks, whereas with the extension of this addition beyond 24 weeks, BMI did not reduce further, which indicated that benefits were limited from this prolonged addition. AAs were less potent in reducing hirsutism score (E: 40.2% versus 66.2%) and FAI (E: 34.5% versus 75.7%) compared to OCs. OC plus metformin combined OC-derived androgen-suppressing effects and metformin-derived insulin-sensitizing effects, and partially relieved the OC-induced TG increase (E: 9.76%). Baseline dependency was found in most clinical responses, implying that pharmacotherapies tailored based on baselines achieved more clinical improvements. This study presents new quantitative evidence on pharmacotherapies for PCOS. Currently, long-term risk-benefit profiles and emerging therapies are inadequately reported and require more further research.
Topics: Humans; Female; Polycystic Ovary Syndrome; Contraceptives, Oral; Androgen Antagonists; Insulin; Hirsutism; Androgens; Metformin; Hypoglycemic Agents
PubMed: 37666459
DOI: 10.1016/j.ejps.2023.106577 -
Endocrine-related Cancer Nov 2023Steroid cell tumors, not otherwise specified (SCT-NOS), are uncommon ovarian neoplasms accompanied by virilization symptoms due to hyperandrogenism, which are malignant...
Steroid cell tumors, not otherwise specified (SCT-NOS), are uncommon ovarian neoplasms accompanied by virilization symptoms due to hyperandrogenism, which are malignant in approximately one-third of the cases. Given the rarity of SCT-NOS, their molecular underpinnings have not yet been studied in depth. In this case series, we performed the first comprehensive analysis of the genetic landscape of this rare ovarian tumor. A detailed clinicopathological description of an index case is also provided. Over a 20-year period, a total of eight patients were seen at our institution. Total nucleic acids (RNA and DNA) were extracted from evaluable formalin-fixed, paraffin-embedded tumor specimens (n = 7) and subjected to TruSight Oncology 500 testing and/or exome sequencing. The results identified pathogenic variants in several hypoxia-related genes - including HIF1A, VHL, SDHB, SRC, IDH2, and FOXO4. As the first comprehensive genetic analysis of SCT-NOS, this study shows that dysregulation in the hypoxia signaling pathway is a key molecular feature of this rare tumor. Clinically, long-term follow-up with periodic measurements of androgen levels should be pursued in all cases since recurrences may occur several years after the initial diagnosis.
Topics: Female; Humans; Ovarian Neoplasms; Sex Cord-Gonadal Stromal Tumors; Virilism; Hypoxia; Steroids
PubMed: 37655726
DOI: 10.1530/ERC-23-0179 -
Frontiers in Endocrinology 2023Due to its high heterogenicity and unclear etiology, there is currently no specific treatment for polycystic ovary syndrome (PCOS). Metformin, as an insulin sensitizer,... (Meta-Analysis)
Meta-Analysis
AIMS
Due to its high heterogenicity and unclear etiology, there is currently no specific treatment for polycystic ovary syndrome (PCOS). Metformin, as an insulin sensitizer, combined with spironolactone, an antiandrogen medication, may exert complementary effects on PCOS. We therefore performed a meta-analysis of trials in which metformin combined with spironolactone was applied to treat PCOS to evaluate the efficacy and safety of the combination therapy.
METHODS
We retrieved the PubMed, Embase, Scopus, Cochrane Library, CNKI, CBM, Wangfang, and VIP databases for literatures published from their inception to December 16, 2022 on the effects of metformin combined with spironolactone in the treatment of PCOS. Inclusion criteria according to P.I.C.O.S criteria were: PCOS patients, metformin combined with spironolactone interventions, metformin alone control group, and randomized controlled trials with the following outcome data: body mass index (BMI), hirsutism score, luteinizing hormone (LH), follicle-stimulating hormone (FSH), total testosterone (TT), fasting blood glucose (FBG), Homeostatic Model Assessment for Insulin Resistance (HOMA-IR), and side effects including nausea, vomiting, diarrhea and drug withdrawal.
RESULTS
Our results revealed that metformin combined with spironolactone significantly reduced BMI and TT, but that it exerted no significant effects on hirsutism score, or on FSH or LH concentrations. Combined treatment also resulted in a significant diminution in FBG and insulin resistance using the HOMA-IR when the interventional time was greater than 6 months. In addition, the combination did not have a higher occurrence of adverse reactions than metformin alone.
CONCLUSION
Compared with metformin alone, metformin combined with spironolactone therapy may be more effective in reducing BMI and serum androgen levels, but the combination showed no significant effect on the hirsutism score or gonadotropin hormone levels, and was not associated with an elevation in side-effects. Moreover, when the treatment course was greater than 6 months, combination therapy reduced FBG and improved insulin resistance more effectively than metformin alone. However, more research is needed to determine the most effective course of treatment.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42022355515.
Topics: Female; Humans; Hirsutism; Insulin Resistance; Polycystic Ovary Syndrome; Spironolactone; Drug-Related Side Effects and Adverse Reactions; Follicle Stimulating Hormone, Human; Luteinizing Hormone
PubMed: 37635987
DOI: 10.3389/fendo.2023.1223768 -
Endocrine Nov 2023To investigate the prevalence of polycystic ovary syndrome and its clinical and hormonal profile in females with type 1 diabetes.
Prevalence of polycystic ovary syndrome and its clinical and hormonal profile in young females with type 1 diabetes mellitus: experience from a teaching institution of India.
OBJECTIVE
To investigate the prevalence of polycystic ovary syndrome and its clinical and hormonal profile in females with type 1 diabetes.
MATERIALS AND METHODS
65 T1DM females were evaluated for presence of PCOS by Rotterdam ESHRE/ASRM consensus criteria and compared with age and BMI matched females with PCOS without diabetes and females with T1DM without PCOS.
RESULTS
According to Rotterdam criteria 18/65 (27%) had PCOS. Prevalence of androgen excess, hirsutism, menstrual dysfunction and PCOM was 26%, 3%, 21% and 52%, respectively. Females with T1DM who had PCOS did not differ from females with T1DM without PCOS. When the group of T1DM with PCOS was compared with PCOS females without diabetes, they had significantly lower hirsutism score (median, IQR; 1.5, 0-3 vs. 11.5, 0-16.5, p = 0.04), significantly higher waist hip ratio (0.91, 0.89-0.99 vs. 0.86, 0.80-0.89, p = 0.004) and SHBG (in nmol, 54.4, 38-86.2 vs. 28.3, 20.4-37.4, p = 0.004).
CONCLUSION
Females with T1DM have a high prevalence of menstrual abnormalities, hyperandrogenism and PCOS which is not related to metabolic control, age of onset of diabetes or insulin dose. Polycystic ovary syndrome, hyperandrogenism, type 1 diabetes, menstrual irregularity, hirsutism.
Topics: Female; Humans; Polycystic Ovary Syndrome; Hyperandrogenism; Diabetes Mellitus, Type 1; Hirsutism; Prevalence
PubMed: 37615813
DOI: 10.1007/s12020-023-03470-z