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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 -
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 -
Frontiers in Endocrinology 2024To evaluate the effects of behavioral intervention for polycystic ovary syndrome (PCOS). (Meta-Analysis)
Meta-Analysis
The effects of behavioral intervention on anthropometric, clinical, and biochemical parameters in patients with polycystic ovary syndrome: a systematic review and meta-analysis.
OBJECTIVE
To evaluate the effects of behavioral intervention for polycystic ovary syndrome (PCOS).
METHODS
Electronic databases were searched, including Pubmed, Medline, EMBASE, and the Cochrane Central Register of Controlled Trials from inception to 1 April 2023. Inclusion criteria for this study required a diagnosis of PCOS. Interventions of interest included behavioral intervention and routine treatment compared with routine treatment. The studies included in the analysis were designed as randomized controlled trials (RCTs). We conducted meta-analyses following the recommended guidelines. The data was analyzed using either the random effects model or fixed effects model. The results of the studies were expressed as either mean differences (MD) or standardized mean differences (SMD) along with their corresponding 95% confidence intervals (CIs).
RESULTS
Eight RCTs were identified, including data from 744 patients (415 in the intervention group and 329 in the control group). The results indicate an improvement in the effectiveness of behavioral interventions for weight loss (MD: -1.07; 95% CI: -2.1 to 0.03; I = 0%; P=0.04), body mass index (BMI) (MD: -1.12; 95% CI: -1.92 to -0.33; I = 73%; P=0.006), waist circumference (MD: -3.97; 95% CI: -5.64 to -2.29; I = 0%; P<0.00001), quality of life about weight (MD: 0.58; 95% CI: 0.15 to 1.02; I = 0%; P=0.008), depression (SMD: -1.12; 95% CI: -2.35 to -0.07; I = 92%; P=0.04), and triglycerides (MD: -0.16; 95% CI: -0.27 to -0.05; I = 27%; P=0.004). However, there were no significant differences in menstrual cycles, hirsutism, emotions, and infertility. The study also found that behavioral interventions had no significant effect on systolic and diastolic blood pressure, high-density lipoprotein, low-density lipoprotein, homeostasis model assessment of insulin resistance, testosterone, total cholesterol, fasting glucose, fasting insulin, hemoglobin A1C, and sex hormone binding globulin.
CONCLUSION
Behavioral intervention supplementation contributes to weight loss, reduction in BMI and waist circumference, and improvement in depression among patients with PCOS. However, no significant improvement was observed in the biochemical index and quality of life. The long-term effects of behavioral intervention for PCOS remain unclear due to limitations in the quality of the studies involved and the short duration of treatment.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/PROSPERO, identifier CRD42023442875.
Topics: Female; Humans; Polycystic Ovary Syndrome; Hirsutism; Insulin Resistance; Quality of Life; Weight Loss
PubMed: 38481448
DOI: 10.3389/fendo.2024.1297841 -
Pediatric Surgery International Mar 2024To present our surgical experience and outcomes in congenital adrenal hyperplasia (CAH) patients with severe virilization using a combined technique of total urogenital...
PURPOSE
To present our surgical experience and outcomes in congenital adrenal hyperplasia (CAH) patients with severe virilization using a combined technique of total urogenital mobilization (TUM) and a modified pull-through vaginoplasty to perform a safe and effective one-stage feminizing genital reconstruction for these children.
METHODS
Fourteen CAH patients with severe virilization, defined by a Prader IV and V rating of the external genitalia, underwent TUM followed by a limited vaginal pull-through procedure from June 2016 to December 2020. Postoperative anatomical and cosmetic outcomes, and urinary continence, were evaluated.
RESULTS
Out of the 14 cases in this study, 8 were classified as prader IV and 6 as Prader V. The median age at surgery was 11 months (range 6-36 months), and the mean urethral length was 1.4 cm (range 1.2-1.8 cm). The median follow-up period was 4 years. Our cosmetic outcomes were good in 11 (78.5%), satisfactory in 2, and poor in one case. All patients achieved age-appropriate toilet training without urinary incontinence.
CONCLUSION
Adopting our surgical approach of TUM with modified pull-through vaginoplasty has simplified feminizing surgical reconstruction in CAH cases with severe genital atypia and a very high vaginal confluence with short urethral length, yielding adequate introitus with good anatomical and cosmetic appearance and adequate urinary continence outcomes.
Topics: Child; Female; Humans; Infant; Child, Preschool; Adrenal Hyperplasia, Congenital; Virilism; Postoperative Period; Urethra; Vagina
PubMed: 38446278
DOI: 10.1007/s00383-024-05638-8 -
Rhode Island Medical Journal (2013) Mar 2024The Spanish artist, Jusepe de Ribera, painted a portrait of a virilized woman in 1631. He provided a brief clinical history on stone tablets, which indicates that the...
The Spanish artist, Jusepe de Ribera, painted a portrait of a virilized woman in 1631. He provided a brief clinical history on stone tablets, which indicates that the woman most likely harbored a benign, androgen-secreting ovarian tumor for 15 years.
Topics: Male; Female; Humans; Virilism; Ovarian Neoplasms
PubMed: 38412348
DOI: No ID Found -
Experimental and Clinical Endocrinology... Jan 2024Hyperandrogenism is among the most common endocrine disorders in women. Clinically, it manifests as hirsutism, acne, and alopecia. A healthy lifestyle, including...
BACKGROUND
Hyperandrogenism is among the most common endocrine disorders in women. Clinically, it manifests as hirsutism, acne, and alopecia. A healthy lifestyle, including nutritious dietary patterns and physical activity, may influence the clinical manifestation of the disease. This study determined the effect of a low-glycemic index anti-inflammatory diet on testosterone levels and sex hormone-binding globulin (SHBG) and clinical symptoms in hyperandrogenic women at their reproductive age.
METHODS
The study included 44 overweight and obese women diagnosed with hyperandrogenism. The anthropometrics (weight, height, body mass index, waist circumference, hip circumference), physical activity, and dietary habits were assessed using valid questionnaires, scales, stadiometer, and tape meter. The significant p-value was <0.001. Serum testosterone and SHBG levels were measured using automated immunoassay instruments.
RESULTS
The intervention based on a low-glycemic index diet with anti-inflammatory elements and slight energy deficit decreased total testosterone levels (p<0.003), increased SHBG levels (p<0.001), and decreased the free androgen index (FAI; p<0.001). Post-intervention, overall well-being was much higher than in the pre-intervention period (p<0.001), and stress was diminished (p<0.001). Western nutritional patterns positively correlate with clinical hyperandrogenism progression, whereas several factors of the low-glycemic index diet with anti-inflammatory elements and slight energy deficit positively associate with reduced clinical hyperandrogenism symptoms.
CONCLUSIONS
In overweight and obese women, proper selection of diet, introduction of moderate physical activity, and reduction in weight, stress factors, and alcohol consumption translate into several positive effects, including reduced FAI and symptoms such as acne, hirsutism, menstrual disorders, and infertility.
Topics: Female; Humans; Hyperandrogenism; Hirsutism; Androgens; Polycystic Ovary Syndrome; Testosterone; Overweight; Obesity; Acne Vulgaris; Diet; Hypoglycemia; Anti-Inflammatory Agents; Sex Hormone-Binding Globulin; Body Mass Index
PubMed: 38237611
DOI: 10.1055/a-2201-8618 -
Medicine Dec 2023Disorders/differences of sex development (DSD) include a diverse group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is... (Review)
Review
RATIONALE
Disorders/differences of sex development (DSD) include a diverse group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is discordant. It involves several variant genes, and one of them is NR5A1. NR5A1 encodes a signal transduction regulator in the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal pathway, and pathogenic mutation in this gene is a cause of 46,XY DSD.
PATIENT CONCERNS
A 12-year-old individual raised as a girl was admitted to the hospital due to hirsutism and a deep voice that began at 11 years old. The individual exhibited testicular hypoplasia, clitoral hypertrophy, and female external genitalia.
DIAGNOSES
The patient was diagnosed 46,XY partial gonadal dysgenesis. The cytogenetics revealed a 46,XY karyotype and DNA sequencing shown a variant in NR5A1. Pelvic magnetic resonance imaging showed absence of uterus and ovaries. The abdominopelvic ultrasound revealed bilateral testicle in bilateral groin. Pathology confirmed testes dysgenesis.
INTERVENTIONS
The patient underwent bilateral orchiectomy at age 12 years and was given a feminizing hormonal treatment of 0.5 mg/day of estradiol valerate tablets.
OUTCOMES
The patient recovered well after surgery and hormonal treatment and had a regression in hirsutism and clitoromegaly.
LESSONS
46,XY DSD is a rare disease that the development of chromosomal, gonadal, or anatomical sex is discordant, when diagnosed 46,XY DSD, the identification of an NR5A1 variant should be considered.
Topics: Male; Humans; Female; Child; Testis; Disorder of Sex Development, 46,XY; Hirsutism; Mutation; Gonadal Dysgenesis; Steroidogenic Factor 1; Gonadal Dysgenesis, 46,XY
PubMed: 38206718
DOI: 10.1097/MD.0000000000036725