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Indian Journal of Public Health Oct 2023Polycystic ovarian syndrome (PCOS) is one of the most common reproductive endocrinological disorders affecting 6%-8% of women in reproductive years. An early liberal...
BACKGROUND
Polycystic ovarian syndrome (PCOS) is one of the most common reproductive endocrinological disorders affecting 6%-8% of women in reproductive years. An early liberal PCOS screening appears to be a cost-effective strategy, benefiting earlier diagnosis and intervention.
OBJECTIVES
The objectives are to measure the prevalence of PCOS and factors associated with PCOS among young girl students of a University in Central Gujarat.
MATERIALS AND METHODS
All consenting girl medical students enrolled in MBBS curriculum during 2013-2017 were given a self-administered questionnaire (for signs and symptoms of PCOS), taking due prior permissions; during January 2018-June 2019. Using Rotterdam (2006) criteria, those who were screened for PCOS were subjected to abdominal ultrasonography (USG) and if required, laboratory investigations (random blood sugar, thyroid-stimulating hormone, and free testosterone). The proportion of young women having PCOS as per the Rotterdam and European Society for Human Reproduction and Embryology (EHSRE) Criteria are reported.
RESULTS
The study enrolled 308 girl medical students. More than one-tenth of the study participants (11.7%, 36/308) had confirmed PCOS (Rotterdam Criteria). As per the EHSRE criteria, 24/36 had classic PCOS, 11/36 had ovulatory phenotype, and 01/36 had the non-hyperandrogenic phenotype PCOS. USG was required in 123/308 (39%); of which 91 consented and 16/91 (18%) had conclusive PCOS. Twenty-three girls required laboratory investigations, of which two had abnormal values suggestive of PCOS. Irregular menses and hirsutism were significantly associated with the PCOS (P < 0.05).
CONCLUSION
The proportion of young medical students with PCOS was 12%. Irregular menses and hirsutism were significantly associated with PCOS.
Topics: Humans; Polycystic Ovary Syndrome; Female; Cross-Sectional Studies; India; Adolescent; Prevalence; Universities; Young Adult; Students, Medical; Hirsutism
PubMed: 38934823
DOI: 10.4103/ijph.ijph_1508_22 -
Annals of the Academy of Medicine,... Dec 2023Two decades after the Rotterdam 2003 consensus workshop, there have been considerable advances in elucidating the pathophysiology and epidemiology of polycystic ovary... (Review)
Review
INTRODUCTION
Two decades after the Rotterdam 2003 consensus workshop, there have been considerable advances in elucidating the pathophysiology and epidemiology of polycystic ovary syndrome (PCOS). This has prompted the re-examination of the features that characterise this common condition. Current definitions have led to great heterogeneity in the prevalence of PCOS and have contributed to inconsistent treatment protocols and assessment of therapeutic outcomes. Diagnosis is further complicated by the lack of universal agreement on threshold cut-offs for ovarian dysfunction and ethnic differences in hirsutism; both of which are key features in the definitions that are commonly used currently. These challenges often result in dissatisfaction with medical care among PCOS patients and their physicians.
METHOD
Our factor analysis mathematically identified anti-Mullerian hormone (AMH), associated polycystic ovarian morphology (PCOM) and serum testosterone as the only significant cluster associated with menstrual cycle length variability.
RESULTS AND CONCLUSION
As such, we propose a simplified criteria wherein the presence of at least 2 of the 3 features below would be sufficient to define PCOS: (1) chronic oligo-ovulation or anovulation as indicated by oligomenorrhea (cycle lengths >35 days) or amenorrhea; (2) PCOM: raised AMH ≥37.0 pmol/L instead of transvaginal ultrasound assessment of ovaries; and (3) Androgen excess, or raised serum androgens above the laboratory reference for women. Further studies are required to examine whether the proposed criteria would reduce diagnostic confusion and improve care and outcomes, especially among patients of East Asian ethnicities.
Topics: Humans; Polycystic Ovary Syndrome; Female; Testosterone; Phenotype; Anti-Mullerian Hormone; Asian People; Hirsutism; Oligomenorrhea; Anovulation; Factor Analysis, Statistical; Amenorrhea; Menstrual Cycle; Ovary; East Asian People
PubMed: 38920160
DOI: 10.47102/annals-acadmedsg.202369 -
JPMA. the Journal of the Pakistan... Apr 2024To examine the fear of negative evaluation as a predictor, and to explore the association of social anxiety with psychological correlates among women with polycystic...
OBJECTIVE
To examine the fear of negative evaluation as a predictor, and to explore the association of social anxiety with psychological correlates among women with polycystic ovaries.
METHODS
The cross-sectional study was conducted from August 2020 to November 2021 after approval form the University of Central Punjab, Lahore, Pakistan, and comprised unmarried women aged 18-26 diagnosed with polycystic ovary syndrome. The sample was raised from different clinics and hospitals based in Lahore and Gujranwala cities. The sample was divided into obese, hirsutism and acne vulgaris groups. Data was collected using a demographic proforma along with standardised Derriford Appearance Scale, Brief Fear of Negative Evaluation Scale, University of California, Los Angeles, Loneliness Scale and the Social Interaction Anxiety Scale. Data was analysed using SPSS 24.
RESULTS
Of the 180 patients, 60(33.3%) were in each of the 3 groups. The overall mean age was 21.4+/-2.27 years. A significant association of fear of negative evaluation was found with appearance distress, social anxiety and loneliness (p<0.05). The fear of negative evaluation and appearance distress also significantly predicted loneliness in the subjects (p<0.01). The obese group scored significantly higher in terms of fear of negative evaluation and social anxiety compared to the other groups (p<0.05).
CONCLUSION
Women with polycystic ovaries were found to be suffering from adverse psychological outcomes and social anxiety.
Topics: Humans; Female; Polycystic Ovary Syndrome; Pakistan; Cross-Sectional Studies; Young Adult; Adult; Adolescent; Anxiety; Psychological Distress; Obesity; Hirsutism; Acne Vulgaris; Loneliness; Fear; Phobia, Social
PubMed: 38751262
DOI: 10.47391/JPMA.9471 -
Medicine and Pharmacy Reports Apr 2024Congenital adrenal hyperplasia (CAH) is determined in the vast majority of cases by mutations in the gene, which cause the deficiency of the 21 hydroxylase enzyme,...
Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report.
Congenital adrenal hyperplasia (CAH) is determined in the vast majority of cases by mutations in the gene, which cause the deficiency of the 21 hydroxylase enzyme, which is involved in the synthesis of cortisol and aldosterone. Generally, CAH phenotype and disease severity can be predicted with the genotypes and is related to the residual activity of 21 hydroxylase enzyme. It is divided into classical CAH with salt wasting and simple virilizing forms and non-classical or late-onset CAH forms, respectively. Patients with 21 hydroxylase deficiency, including those with non-classic forms face immense challenges to their fertility. Glucocorticoid therapy has been shown to be useful in obtaining and maintaining a pregnancy among these patients, but it must be used with caution. Given the relevance of CAH in reproductive medicine as well as the diagnostic challenges posed by the phenotypic overlap with polycystic ovary syndrome and by overlap of its own phenotypes (classic CAH-nonclassic CAH), we present the case of a woman with CAH due to 21 hydroxylase deficiency caused by the P30L mutation with a clinical and biochemical presentation between the non-classical form and the classic simple virilizing form. Further, the successful fertility management in this patient and an overview of fertility management in CAH is depicted, as well.
PubMed: 38746038
DOI: 10.15386/mpr-2580 -
Frontiers in Endocrinology 2024Congenital adrenal hyperplasia (CAH) and Williams Syndrome (WS; MIM # 194050) are distinct genetic conditions characterized by unique clinical features. 21-Hydroxylase...
Congenital adrenal hyperplasia (CAH) and Williams Syndrome (WS; MIM # 194050) are distinct genetic conditions characterized by unique clinical features. 21-Hydroxylase deficiency (21-OHD; MIM #201910), the most common form of CAH, arises from mutations in the gene, resulting in virilization of the external genitalia in affected females, early puberty in males, and short stature. Williams syndrome, caused by a microdeletion of 7q11.23, presents with distinctive facial features, intellectual disability, unique personality traits, early puberty, and short stature. This case report describe the clinical features of a 4-year-old girl referred due to progressive virilization and developmental delay. Genetic analysis confirmed concurrent CAH and WS, identifying a novel mutation in the gene (c.1442T>C). Following corticosteroid therapy initiation, the patient developed central precocious puberty. This case report delves into the pubertal change patterns in a patient affected by overlapping genetic conditions, providing valuable insights in to the intricate clinical manifestation and management of these rare complex disorders.
Topics: Humans; Female; Adrenal Hyperplasia, Congenital; Puberty, Precocious; Williams Syndrome; Child, Preschool; Virilism; Steroid 21-Hydroxylase; Mutation
PubMed: 38699383
DOI: 10.3389/fendo.2024.1352552 -
Anales de Pediatria May 2024
Topics: Humans; Adrenal Gland Neoplasms; Virilism; Female; Diagnosis, Differential; Adrenal Hyperplasia, Congenital
PubMed: 38580598
DOI: 10.1016/j.anpede.2024.03.019 -
Journal of Paediatrics and Child Health 2024Hormone replacement therapy with testosterone for pubertal induction in boys with congenital hypogonadotropic hypogonadism (CHH) achieves virilization but not...
Fertility outcomes in male adults with congenital hypogonadotropic hypogonadism treated during puberty with human chorionic gonadotropin and recombinant follicle stimulating hormone.
AIM
Hormone replacement therapy with testosterone for pubertal induction in boys with congenital hypogonadotropic hypogonadism (CHH) achieves virilization but not spermatogenesis. By contrast, human chorionic gonadotropin (hCG) and recombinant follicle stimulating hormone (rFSH) provides both virilization and spermatogenesis. Fertility outcomes of boys treated with recombinant therapy during adolescence have been infrequently described. We report fertility induction and pregnancy outcomes in CHH patients treated with recombinant gonadotropins during puberty.
METHODS
Data of six subjects with CHH (n = 3 Kallmann syndrome & n = 3 Isolated hypogonadotropic hypogonadism) treated with hCG and FSH for pubertal induction were reviewed. Of these, five underwent subsequent fertility induction while one desired fertility at the end of pubertal induction.
RESULTS
Partners of all subjects achieved pregnancies using hCG and rFSH, all with full term live births. All infants were clinically normal.
CONCLUSION
This study provides early evidence of proof of concept of use of gonadotropin induction of puberty being beneficial in subsequent fertility outcome.
Topics: Adult; Pregnancy; Infant; Female; Adolescent; Humans; Male; Chorionic Gonadotropin; Hypogonadism; Follicle Stimulating Hormone; Testosterone; Fertility; Recombinant Proteins; Puberty; Virilism
PubMed: 38572627
DOI: 10.1111/jpc.16540 -
Gynecological Endocrinology : the... Mar 2024To highlight the challenges in diagnosing 46, XY disorder of sex development related to mutation. (Review)
Review
OBJECTIVE
To highlight the challenges in diagnosing 46, XY disorder of sex development related to mutation.
METHODS
We present an unusual case of a 12-year-old female child came for enlargement of clitoris and initially diagnosed as partial androgen insensitivity syndrome (AIS).
RESULTS
On examination, the patient's vulva was found virilized with 3cm-long clitoris. Her peripheral blood karyotype was 46, XY. The ultrasound showed an empty pelvis and hormone results confirmed hyperandrogenism. Therefore, the partial AIS was suspected, but the following whole exon sequencing indicates a pathological missense mutation in . Further investigation and surgery did not reveal any brain, heart, lung or diaphragm lesions related to MYRF, but only maldeveloped internal genitalia and a persistent urachus. Her serum testosterone dropped to normal after surgical removal of the remaining ipsilateral testis and epididymitis without spermatogenesis as shown by pathology.
CONCLUSION
Due to the karyotype, hyperandrogenism, empty pelvis but a virilism after puberty, the patient was initially diagnosed as partial AIS. This misleading clinical diagnose will not be verified as the mutation if without the whole exon sequencing, particularly in the absence of obvious brain, heart, lung and diaphragm lesions as in this case.
Topics: Child; Female; Humans; Male; Androgen-Insensitivity Syndrome; Hyperandrogenism; Mutation; Receptors, Androgen; Sexual Development; Transcription Factors; Membrane Proteins
PubMed: 38547923
DOI: 10.1080/09513590.2024.2331072 -
Georgian Medical News Jan 2024Polycystic ovary syndrome (PCOS) is the most prevalent endocrine disorder that affects women of reproductive age. Aim - to determine the association between body mass...
Polycystic ovary syndrome (PCOS) is the most prevalent endocrine disorder that affects women of reproductive age. Aim - to determine the association between body mass index, hirsutism, acne, and hormonal status with Polycystic ovary syndrome. This cross-sectional study included 55 women with PCOS, between the ages of 18 and 39 who attended the Obstetrics and Gynecology Clinic at the University Clinical Center of Kosovo (UCCK). Body mass index (BMI) was calculated and luteinizing hormone (LH), follicle stimulating hormone (FSH), LH/FSH ratio, testosterone and dehydroepiandrosterone sulfate (DHEA-S) values were determined. All the data were analyzed after the clinic-endocrine profile was assessed. The average age of women with PCOS was 21.36±4.29. Hirsutism and acne were quite conspicuous, as well as testosterone and DHEA-S values. Moreover, women with PCOS had higher values of LH and LH/FSH ratio (8.17±9.66 and 2.86±2.74) but not FSH values (4.16±2.97) that showed a positive correlation with polycystic ovary syndrome. Thus, PCOS is a multifaceted endocrine and metabolic disorder, which needs early recognition and treatment to prevent long-term complications.
Topics: Female; Humans; Adolescent; Young Adult; Adult; Polycystic Ovary Syndrome; Hirsutism; Cross-Sectional Studies; Luteinizing Hormone; Follicle Stimulating Hormone; Testosterone; Dehydroepiandrosterone; Acne Vulgaris; Body Mass Index
PubMed: 38501614
DOI: No ID Found -
Abdominal Radiology (New York) Jun 2024Hirsutism is a relatively common disorder which affects approximately 5% to 15% of women. It is defined by excessive growth of terminal hair in women, which primarily... (Review)
Review
Hirsutism is a relatively common disorder which affects approximately 5% to 15% of women. It is defined by excessive growth of terminal hair in women, which primarily affects areas dependent on androgens, such as the face, abdomen, buttocks, and thighs. Hirsutism can be caused by a variety of etiologies, which are most often not lifethreatening. However, in some cases, hirsutism can be an indicator of more serious underlying pathology, such as a neoplasm, which may require further elucidation with imaging. Within the abdomen and pelvis, adrenal and ovarian pathologies are the primary consideration. The goal of this manuscript is to review the etiologies and imaging features of various intra-abdominal and intra-pelvic causes of hirsutism.
Topics: Humans; Female; Hirsutism; Diagnosis, Differential; Adrenal Gland Diseases
PubMed: 38499827
DOI: 10.1007/s00261-024-04189-9