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Breast Cancer Research and Treatment Jun 2024Patients with chemotherapy-induced ovarian function failure (CIOFF) may experience ovarian function recovery (OFR). Earlier, we showed that OFR during treatment with...
PURPOSE
Patients with chemotherapy-induced ovarian function failure (CIOFF) may experience ovarian function recovery (OFR). Earlier, we showed that OFR during treatment with anastrozole impacted the prognosis of hormone receptor-positive (HR+) breast cancer (BC) patients with CIOFF. Here, we present the long-term follow-up results.
METHODS
Postmenopausal women with HR+ BC who were 45-57 years of age and received chemotherapy were identified from the phase 3 DATA study (NCT00301457) on the extended use of anastrozole. Eligible patients were categorised into two groups: patients with CIOFF and definitely postmenopausal patients. Patients with CIOFF were monitored for OFR. Disease-free survival (DFS), distant recurrence-free survival (DRFS), and overall survival (OS) were compared between patients with OFR and patients without OFR using multivariable Cox regression analyses, including OFR as a time-dependent covariate. BC-specific mortality (BCSM) was compared between groups using the Fine and Gray method.
RESULTS
This study included 656 patients: 395 patients with CIOFF and 261 definitely postmenopausal patients. OFR occurred in 39 (12%) of 329 patients with CIOFF who were monitored for OFR. The median follow-up time was 13.3 years. Patients with OFR experienced a deterioration in DFS (hazard ratio (HR) = 1.54; 95% confidence interval (CI) 0.85-2.81), DRFS (HR = 1.51; 95% CI 0.73-3.11), OS (HR = 1.64; 95% CI 0.75-3.55), and BCSM (subdistribution HR = 1.98; 95% CI 0.84-4.63) when compared with patients without OFR.
CONCLUSION
In patients with CIOFF, OFR during treatment with anastrozole was associated with a deterioration in BC outcomes. These findings underscore the importance of adequate ovarian function suppression in this subgroup of patients.
PubMed: 38940981
DOI: 10.1007/s10549-024-07411-w -
The Pan African Medical Journal 2024Placenta accreta is a rare but serious placental attachment abnormality. The aim of this study is to analyze the epidemiological, clinical, para-clinical and...
[Placenta accreta: a retrospective descriptive study of 46 patients treated in the Obstetrics and Gynaecology Department of the Farhat Hached University Hospital in Sousse, Tunisia].
Placenta accreta is a rare but serious placental attachment abnormality. The aim of this study is to analyze the epidemiological, clinical, para-clinical and evolutionary features of placenta accreta, to investigate the therapeutic management and to assess maternal and neonatal morbidity and mortality. We conducted a retrospective, descriptive study of patients with histologically confirmed placenta accreta in the obstetrics and gynaecology department of the Farhat Hached University Hospital in Sousse, over a 4-year period from 1 January 2015 to 31 December 2019. The epidemiological, clinical, paraclinical, therapeutic and evolutionary data were collected from patients´ medical records and operative reports. In our series, we identified 46 cases of placenta accreta. The average age of our patients was 35±4.61 years. Each of our patients had a scarred uterus. The average term of delivery was 34 weeks of amenorrhoea and the mode of delivery was caesarean section for all our patients. First-line hysterectomy was performed in 40 patients and conservative treatment in 6. Sixteen patients developed maternal complications. No maternal death was observed. Placenta accreta is a rare condition associated with significant maternal and foetal morbidity.
Topics: Humans; Female; Retrospective Studies; Tunisia; Placenta Accreta; Adult; Pregnancy; Hospitals, University; Hysterectomy; Cesarean Section; Young Adult; Infant, Newborn; Conservative Treatment
PubMed: 38933434
DOI: 10.11604/pamj.2024.47.147.38111 -
Life (Basel, Switzerland) Jun 2024Primary amenorrhea, the absence of menstruation by age 15, can have significant implications for reproductive health and overall well-being. This retrospective study...
Primary amenorrhea, the absence of menstruation by age 15, can have significant implications for reproductive health and overall well-being. This retrospective study aimed to evaluate the effectiveness of various management strategies for primary amenorrhea among women of reproductive age in Saudi Arabia. Medical records of 63 eligible patients from 2018 to 2023 were analyzed, assessing diagnostic methods, treatment modalities, and associated outcomes. The findings revealed that hormonal therapy was the most commonly employed management strategy (50.0%) and demonstrated the highest rate of achieving menstrual regularity (62.5%). Surgical interventions were utilized in 28.1% of cases, with a 50.0% rate of symptom resolution. Lifestyle modifications were less frequent (21.9%) but showed a moderate rate of symptom resolution (35.7%). Logistic regression analysis identified age, underlying etiology, and management strategy as significant predictors of treatment success. Subgroup analyses highlighted the efficacy of hormonal therapy and lifestyle modifications for genetic etiologies, while surgical interventions were more effective for anatomical causes. The study underscores the importance of a comprehensive diagnostic approach and personalized treatment plans tailored to individual patient characteristics. Despite limitations, the findings contribute to the understanding of optimal management strategies for primary amenorrhea and emphasize the need for multidisciplinary collaboration in addressing this complex condition.
PubMed: 38929754
DOI: 10.3390/life14060772 -
The Journal of Obstetrics and... Jun 2024To clarify the diagnostic process of the causative disease of abnormal uterine bleeding (AUB) in Japan according to the International Federation of Gynecology and...
AIM
To clarify the diagnostic process of the causative disease of abnormal uterine bleeding (AUB) in Japan according to the International Federation of Gynecology and Obstetrics AUB diagnostic system.
METHODS
Patients diagnosed with AUB were included in a nationwide survey of AUB conducted during any 2-week period between December 2019 and January 2020. The second survey included information on patient background, AUB symptoms, examinations for diagnosing AUB, the order in which they were performed, and the causative diseases of AUB.
RESULTS
Correspondence analysis showed an association between hormonal testing, hysterosalpingography, and magnetic resonance imaging (MRI) in patients with amenorrhea, and heavy menstrual bleeding was strongly correlated with various examinations, such as coagulation tests, pelvic MRI, and endometrial cytology or biopsy. The results also indicated that each AUB causative disease can be diagnosed based on a specific examination profile.
CONCLUSION
We clarified the process of diagnosing the causative disease of AUB in our country and determined that it was mainly diagnosed by imaging and pathological examination in cases of structural disease. The high rate of AUB-E and the low rate of AUB-C are possibly associated with specific examination trends in Japan. The results of this study will be useful for the development of a standard protocol for AUB diagnosis in our country.
PubMed: 38925169
DOI: 10.1111/jog.16014 -
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 -
Journal of Clinical Research in... Jun 202417α‑hydroxylase/17,20‑lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia that causes decreased cortisol and sex steroid levels and leads to...
17α‑hydroxylase/17,20‑lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia that causes decreased cortisol and sex steroid levels and leads to high production of adrenocorticotropic hormone (ACTH). Although affected patients have absolute cortisol deficiency, they do not show clinical signs of cortisol deficiency or hyperpigmentation. These patients most commonly present with delayed puberty and amenorrhea at late pubertal age. Impaired production of sex steroids leads to ambiguous or female external genitalia in affected 46, XY individuals. In this report, we describe a patient with 17OHD who presented with hyperpigmentation and hypergonodotropic hypogonadism while receiving chemotherapy.
PubMed: 38912718
DOI: 10.4274/jcrpe.galenos.2024.2024-3-13 -
JCEM Case Reports Jun 2024Turner syndrome (TS) is the most common sex chromosome disorder affecting females and is usually diagnosed within the first 3 decades of life. It can present with...
Turner syndrome (TS) is the most common sex chromosome disorder affecting females and is usually diagnosed within the first 3 decades of life. It can present with primary amenorrhea or infertility and often has a typical phenotype, with associated medical conditions that require lifelong surveillance. We report the case of a 76-year-old female with a history of osteoporosis and vertebral fractures who presented to our specialist osteoporosis clinic following a neck of femur fracture. She revealed a history of short stature and primary amenorrhea as a young woman, with limited investigation and treatment. Her other medical history included coeliac disease, hypertension, and hearing and vision abnormalities. Given her phenotype, the patient was referred for a karyotype at age 76, which was consistent with mosaic TS (45, X in 78% of cells and 46, X, r(Y) in the remaining cells). We review reports of other cases of marked delay in TS diagnosis and discuss the consequences of a late diagnosis.
PubMed: 38911360
DOI: 10.1210/jcemcr/luae104 -
Reproductive Biology and Endocrinology... Jun 2024Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian...
BACKGROUND
Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI). Only 20% of female premutation carriers develop early ovulatory dysfunction, the reason for this incomplete penetrance is unknown. This study validated the mathematical model in premutation alleles, after assigning each allele a score representing allelic complexity. Subsequently, allelic scores were used to investigate the impact of allele complexity on age at amenorrhea for 58 premutation cases (116 alleles) previously published.
METHODS
The allelic score was determined using a formula previously described by our group. The impact of each allelic score on age at amenorrhea was analyzed using Pearson's test and a contour plot generated to visualize the effect.
RESULTS
Correlation of allelic score revealed two distinct complexity behaviors in premutation alleles. No significant correlation was observed between the allelic score of premutation alleles and age at amenorrhea. The same lack of significant correlation was observed regarding normal-sized alleles, despite a nearly significant trend.
CONCLUSIONS
Our results suggest that the use of allelic scores combination have the potential to explain female infertility, namely the development of FXPOI, or ovarian dysfunction, despite the lack of correlation with age at amenorrhea. Such a finding is of great clinical significance for early identification of females at risk of ovulatory dysfunction, enhancement of fertility preservation techniques, and increasing the probability for a successful pregnancy in females with premutations. Additional investigation is necessary to validate this hypothesis.
Topics: Humans; Female; Fragile X Mental Retardation Protein; Amenorrhea; Alleles; Primary Ovarian Insufficiency; Adult; Heterozygote; Mutation; Fragile X Syndrome; Age Factors; Young Adult; Adolescent
PubMed: 38907244
DOI: 10.1186/s12958-024-01227-5 -
African Journal of Reproductive Health Apr 2024Given the scarce data on DSD in Sudan, we aimed to characterize DSD's clinical and genetic profile in Sudanese patients. We studied 60 patients with DSD using clinical... (Comparative Study)
Comparative Study
Given the scarce data on DSD in Sudan, we aimed to characterize DSD's clinical and genetic profile in Sudanese patients. We studied 60 patients with DSD using clinical data, cytogenetics, and PCR for the SRY gene. The results showed that 65% grew up as females and 35% as males. There was a high percentage of consanguineous parents (85%). Female genital mutilation (FGM) was performed in 75% of females. Patients who presented after pubertal age were 63%, with ambiguous genitalia in 61.7%, followed by primary amenorrhea (PA) in 30%. The SRY gene was positive in 3.3% of patients with 46,XX karyotype and negative in 6.7% of patients with 46,XY karyotype. 5αR2D-DSD was seen in 43.3%, gonadal dysgenesis in 21.7%, Ovotesticular syndrome in 6.7%, Swyer and Turner syndrome in 5% each, and Androgen Insensitivity Syndrome (AIS) in 3.3%. In conclusion, DSD in Sudan has a distinct profile with late presentation, dominated by 5αR2D-DSD due to the increased consanguineous marriage, and FGM represents a significant risk for DSD patients.
Topics: Humans; Male; Female; Sudan; Middle Aged; Adult; Exercise; Diet; Disorders of Sex Development; Consanguinity; Aged; Adolescent; Reproduction; Gonadal Dysgenesis
PubMed: 38904941
DOI: 10.29063/ajrh2024/v28i4.2 -
Reproductive Medicine and Biology 2024In this unselected population of women referred to a center specialized in gynecologic endocrinology for suspicion of PCOS, a minimum rate of misdiagnosed FHA patients...
In this unselected population of women referred to a center specialized in gynecologic endocrinology for suspicion of PCOS, a minimum rate of misdiagnosed FHA patients of about 2% was found. It is necessary to evaluate reliable markers for the differential diagnosis between PCOS and FHA to avoid incorrect treatment, which might lead to negative long-term effects in women with undiagnosed FHA.
PubMed: 38898999
DOI: 10.1002/rmb2.12591