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Endokrynologia Polska May 2024Mental anorexia nervosa is a rare, potentially severe, chronic, and recurrent mental disorder that occurs more often in women than in men, especially during the...
Mental anorexia nervosa is a rare, potentially severe, chronic, and recurrent mental disorder that occurs more often in women than in men, especially during the childbearing years. The disorder is associated with an increased risk of mortality, mainly related to the physical consequences of severe malnutrition and suicide. Malnutrition of the body can cause serious hormonal and somatic problems. Despite significant hormonal disturbances that reduce fertility, a woman with anorexia can become pregnant. A new phenomenon now seen with increasing frequency is pregorexia, an eating disorder associated with pregnancy. It involves the use of dietary restrictions to avoid excessive weight gain during pregnancy. Pregnancy changes the hormonal economy mainly due to the development of the placenta, which secretes many hormones, not just sex hormones. Mental anorexia poses a significant risk to both mother and child if not diagnosed and treated properly. Treatment of anorexia involves simultaneous somatic and psychological treatment. During pregnancy, additional care should be taken to create an optimal environment for the developing foetus. Unfortunately, there is still a lack of research providing guidance in this area. Available studies are mainly case reports or reports focusing on specific clinical situations. It is worth noting that no study to date has attempted a comprehensive assessment of endocrine disruption in pregnant women with anorexia. Recognising the existing knowledge gap on endocrine disorders in pregnant women with anorexia nervosa, a systematic review of the literature was conducted.
PubMed: 38708911
DOI: 10.5603/ep.99255 -
Journal of Obstetrics and Gynaecology :... Dec 2024Primary amenorrhoea (PA) refers to an ailment when adolescent girls do not attain menarche naturally. It is one of the most common gynaecological disorders specified....
BACKGROUND
Primary amenorrhoea (PA) refers to an ailment when adolescent girls do not attain menarche naturally. It is one of the most common gynaecological disorders specified. Chromosomal abnormalities play a pivotal role in PA. Cytogenetic analysis is an indispensable diagnostic tool to determine the abnormality of the chromosome. In an emerging country like India, cytogenetic analysis is at a nascent stage. There are very few studies on Cytogenetics present in eastern India, including West Bengal. In rural and suburban areas PA sufferers often experience late diagnosis and struggle to access suitable curative management. The aim of the study is to evaluate the various types of chromosomal abnormalities in patients suffering from PA for accurate, better management of the same and further counselling.
METHODS
A total of 40 PA cases were referred by obstetricians and gynaecologists to the Department of Genetics of Nirnayan Health Care, Kolkata. To screen the chromosomal abnormalities, human leukocyte culture was accomplished with their peripheral venous blood followed by G-banding and then karyotyping was executed according to ISCN-2020.
RESULT
Out of 40 patients, 29 were normal among which 46,XX was found in 70% cases (n = 28) and 46,XX,9qh + in 2.5% (n = 1). The remaining 11 showed different types of abnormalities. 45,X was found in 10% (n = 4), 46,X,i(X)(q10) in 2.5% (n = 1), 46,X,del(X)(p11.2) in 2.5% (n = 1), 46,X,del(X)(p22.1) in 2.5% (n = 1), 46,X,del(X)(q24) in 2.5% (n = 1), 46,XY in 2.5% (n = 1), mos 45,X[22]/46,Xi(X)(q.10)[8] in 2.5% (n = 1) and mos 45,X[16]/46,XY[14] (2.5%) in 2.5% (n = 1).
CONCLUSION
This study indicates the importance of chromosomal study which must be included in early diagnosis of PA. Karyotyping at the appropriate phase of life will not only help in the judicial management of this disorder but will also give young girls a better lifestyle.
Topics: Humans; Female; India; Amenorrhea; Adolescent; Adult; Karyotyping; Chromosome Aberrations; Cytogenetic Analysis; Young Adult
PubMed: 38708796
DOI: 10.1080/01443615.2024.2348085 -
Cureus Apr 2024Introduction There have been numerous studies on the anovulatory factor, leading to infertility in women with polycystic ovary syndrome (PCOS); however, studies on the...
Introduction There have been numerous studies on the anovulatory factor, leading to infertility in women with polycystic ovary syndrome (PCOS); however, studies on the endometrium factor causing infertility in PCOS women are scarce. While hysteroscopy can accurately diagnose endometrial disorders such as endometrial polyps, it may be ineffective in detecting probable endometrial pathologies due to different hormonal habitats in these patients. Materials and methods Sixty patients with PCOS-related infertility were included in the study. All participants underwent hysteroscopic examination followed by endometrial biopsy and histopathological examination. The clinical and hormonal profiles of two main subgroups, that is, (a) normal endometrium (N), which included proliferative endometrium and secretory endometrium on histology, and (b) disordered endometrium (D), which included disordered endometrium on histology, were compared. Results There was no correlation between hysteroscopic and histopathological findings of PCOS infertile women. In the subgroup analysis of the two main histological types, that is, normal (proliferative and secretory) and disordered (disordered endometrium), age (28.70±4.66 vs. 32.9±5.61, p=0.012) and duration of amenorrhea (5.49±2.43 vs. 7.82±2.93, p=0.008) were significantly higher in the disordered group. There was a statistically nonsignificant higher BMI in the patients of the disordered endometrium group. Conclusion These findings suggest that endometrial biopsy and histopathological evaluation along with hysteroscopy should be desired in women with PCOS-related infertility, especially if they are in the late reproductive age group and have a longer duration of amenorrhea, regardless of endometrial thickening. This approach is essential to diagnose and treat endometrial disorder, which can be an additional cause of infertility, recurrent implantation failure, and recurrent pregnancy loss, in addition to ovulatory dysfunction.
PubMed: 38707142
DOI: 10.7759/cureus.57666 -
Frontiers in Endocrinology 2024Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by agenesis/aplasia of the uterus and upper part of the vagina in females with... (Review)
Review
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by agenesis/aplasia of the uterus and upper part of the vagina in females with normal external genitalia and a normal female karyotype (46,XX). Patients typically present during adolescence with complaints of primary amenorrhea where the diagnosis is established with significant implications including absolute infertility. Most often cases appear isolated with no family history of MRKH syndrome or related anomalies. However, cumulative reports of familial recurrence suggest genetic factors to be involved. Early candidate gene studies had limited success in their search for genetic causes of MRKH syndrome. More recently, genomic investigations using chromosomal microarray and genome-wide sequencing have been successful in detecting promising genetic variants associated with MRKH syndrome, including 17q12 () and 16p11.2 () deletions and sequence variations in and , pointing towards a heterogeneous etiology with various genes involved. With uterus transplantation as an emerging fertility treatment in MRKH syndrome and increasing evidence for genetic etiologies, the need for genetic counseling concerning the recurrence risk in offspring will likely increase. This review presents the advancements in MRKH syndrome genetics from early familial occurrences and candidate gene searches to current genomic studies. Moreover, the review provides suggestions for future genetic investigations and discusses potential implications for clinical practice.
Topics: Humans; Mullerian Ducts; 46, XX Disorders of Sex Development; Congenital Abnormalities; Female
PubMed: 38699388
DOI: 10.3389/fendo.2024.1368990 -
European Journal of Medical Research May 2024Pituitary abscess (PA) accounts for only 0.3-0.5% of sellar masses, and the lack of specific clinical symptoms makes diagnosing PA difficult without a surgical biopsy....
OBJECTIVES
Pituitary abscess (PA) accounts for only 0.3-0.5% of sellar masses, and the lack of specific clinical symptoms makes diagnosing PA difficult without a surgical biopsy. In clinical practice, PA is often mistaken for cystic pituitary adenoma, craniopharyngioma, and Rathke's cyst. Thus, this study aims to investigate challenges in diagnosing PA and evaluate the importance of combining intraoperative surgery with postoperative antibiotic treatment.
METHODS
We conducted a retrospective analysis of 19 patients diagnosed with PA through histopathology. All patients underwent transsphenoidal surgery (TSS) for pituitary adenomas after undergoing comprehensive preoperative evaluations, including routine tests, endocrine assay, and imaging examination. Furthermore, we compared different treatments for pituitary abscess (PA) to determine the most effective approach for achieving a favorable prognosis.
RESULTS
The most prevalent symptom of PA was headache, especially in the frontal-temporal and vertex regions, ranging from mild to moderate severity. Hypopituitarism-related symptoms were also frequently observed, including hypaphrodisia, cold sensitivity, fatigue, weight loss, polyuria, and amenorrhea. Twelve patients exhibited abnormalities in endocrinology examinations. Diagnosing PA correctly is challenging. In our study, none of the patients were correctly diagnosed with PA prior to surgery, and many sellar lesions were misdiagnosed. The favorable prognosis was largely attributed to surgical intervention and active postoperative antibiotic therapy.
CONCLUSIONS
Given the lack of clarity in preoperative diagnosis, typical intraoperative findings and effective antibiotics treatment are more indicative of the correct diagnosis than other tests. In terms of therapy, optimal surgical intervention and active postoperative antibiotic treatment contribute to resolving the challenges posed by PA.
Topics: Humans; Female; Male; Middle Aged; Adult; Retrospective Studies; Pituitary Diseases; Aged; Pituitary Neoplasms; Brain Abscess; Abscess; Anti-Bacterial Agents
PubMed: 38698484
DOI: 10.1186/s40001-024-01749-z -
Neurosurgery May 2024In May 1968, Lars Leksell and Erik-Olof Backlund achieved a pioneering breakthrough by performing the first Gamma Knife radiosurgery (GKRS) on a craniopharyngioma (CP)....
In May 1968, Lars Leksell and Erik-Olof Backlund achieved a pioneering breakthrough by performing the first Gamma Knife radiosurgery (GKRS) on a craniopharyngioma (CP). Today, more than 50 years later, this patient remains under continuous monitoring, providing the longest documented follow-up of a GKRS-treated CP. This case report provides a complete record of the patient's preoperative presentation, surgical assessment, GKRS, and an extensive long-term follow-up with multiple interventions. The investigation involved analysis of archived and digitalized patient records and radiological images. The patient was a 21-year-old female who presented with amenorrhea and low levels of gonadotropins. Pneumoencephalography showed a calcified 2 × 2.5 cm mass located in the suprasellar region, indicative of a CP. Subsequent stereotactic puncture confirmed a predominantly solid nature of the CP. Given the size and composition of the tumor, the surgical team opted for GKRS. Dose planning was performed manually, with coordinates determined using Leksell's stereotactic frame. The tumor was targeted with a total dose of 50 Gy using 179 beams of 60Co. Over the subsequent 55 years, the patient underwent radiological and clinical follow-ups. Throughout this period, 4 cystic tumor recurrences occurred and were managed by stereotactic puncture and Yttrium-90 instillation radiotherapy. The solid component remained stable without repeated GKRS. The patient suffered lateral quadrant anopsia and endocrinological deficits, necessitating pharmaceutical intervention. Despite these challenges, the patient is still living an active life at age 76 years. This case stands as historic evidence of long-term safety and efficacy of GKRS for CPs.
PubMed: 38690888
DOI: 10.1227/neu.0000000000002973 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... May 2024To explore the genetic basis for a patient with Disorders of sex development (DSD).
OBJECTIVE
To explore the genetic basis for a patient with Disorders of sex development (DSD).
METHODS
A female patient who had presented at the Linyi People's Hospital due to primary amenorrhea on April 6, 2022 was selected as the study subject. Conventional chromosomal karyotyping, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), fluorescence quantitative PCR and Sanger sequencing were carried out for the patient.
RESULTS
The patient, a 14-year-old female, had featured short statue, multiple nevi, and primary amenorrhea. She was found to have a karyotype of 46,X,idic(Y)(p11.3)[59]/45,X[39]/47,X,idic(Y)(p11.3)×2[2]. The result of FISH assay was 46,X,der(Y).ish idic(Y)(p11.3)(SRY+)[59]/45,X[39]/47,X,der(Y)×2.ish idic(Y)(p11.3)(SRY+)[2]. That of CMA was arr[GRCh37](X)×1,(Y)×0-1,arr[GRCh37]Yp11.32(118552_472090)×1. The patient had no deletion in the AZF region of Y chromosome, and was negative for variant of SRY gene. Combining the above results, her molecular karyotype was determined as mos 46,X,idic(Y)(p11.32)[59]/45,X[39]/47,X,idic(Y)(p11.32)×2[2].ish 46,X,idic(Y)(p11.32)(DXZ1+,DYZ1++,DYZ3++,SRY+)[59]/45,X(DXZ1+,DYZ1-,DYZ3-,SRY-)[39]/47,X,der(Y)×2.ish idic(Y)(p11.32)(DXZ1+,DYZ1++,DYZ3++,SRY+)[2].arr[GRCh37](X)×1, (Y)×0-1,arr[GRCh37]Yp11.32(118552_472090)×1. The patient was diagnosed with mosaicism DSD with idic(Y)(p11.32).
CONCLUSION
The abnormal mosaicism karyotype probably underlay the DSD in this patient.
Topics: Humans; Female; Adolescent; Karyotyping; Chromosomes, Human, Y; Disorders of Sex Development; In Situ Hybridization, Fluorescence; Sex Chromosome Aberrations; Genetic Testing
PubMed: 38684314
DOI: 10.3760/cma.j.cn511374-20230706-00413 -
Journal of Orthopaedics Sep 2024Females who engage in high levels of sports have a high prevalence of menstrual cycle disorders and bone stress injuries (BSI). In this study, we determined the...
AIM & OBJECTIVES
Females who engage in high levels of sports have a high prevalence of menstrual cycle disorders and bone stress injuries (BSI). In this study, we determined the prevalence of menstrual disorders and fractures in female athletes and their association with bone mineral density (BMD) parameters.
MATERIAL & METHODS
Cross-Sectional Study. Forty-one female athletes from a public High-Performance Regional Centre; 24 high-endurance athletes (HEA) and 17 other athletes, were included. To form the control group, we invited medical students from a public University. Twenty-nine non-athletes (NA) were included. A health surveys and a dual-energy X-ray absorptiometry (DXA) were conducted for all participants.
RESULTS
Among the participants (median age, 24 years; body mass index, 21 kg/m2), the percentage of long-term amenorrhoea was 42 % in HEA vs. 0 % in NHEA (OR 25.35; 95 % CI 1.37-470.50, p = 0.008) or 10 % in NA (OR 6.20; 95 % CI 1.46-26.24, p = 0.022), and the percentage of BSI was 29 % in HEA vs. 0 % in NHEA or NA. Both groups of female athletes (HEA and NHEA) showed higher Z-scores than those of NA in the femur; however, only NHEA had a significant increase in the BMD on lumbar spine than that of NA.
CONCLUSION
The prevalence of long-term amenorrhoea and/or BSI was significantly higher in the HEA than in the NHEA or NA females. In contrast, HEA, like NHEA, had higher BMD values in the femur than those of controls. It is unlikely that DXA parameters can be used to estimate cortical BSI risk in this population.
PubMed: 38681828
DOI: 10.1016/j.jor.2024.04.015 -
Oxford Medical Case Reports Apr 2024Coexistence of Mayer-Rokitansky-Kuster-Hauster syndrome (MRKH) with other conditions is rare, especially when MRKH was found in a young woman presenting with ovarian...
INTRODUCTION
Coexistence of Mayer-Rokitansky-Kuster-Hauster syndrome (MRKH) with other conditions is rare, especially when MRKH was found in a young woman presenting with ovarian malignancy. This case report wishes to highlight MRKH complicated with giant mucinous cystadenoma and bilateral inguinal hernia.
CASE REPORT
A 22-year-old nulligravid woman was admitted with primary amenorrhea and abdominal mass. Abdominal examination revealed a cystic mass 25 × 25 × 20 cm in size and a vagina 1 cm in length. Pelvic magnetic resonance imaging (MRI) showed a giant multiloculated left ovarian mass amidst the absence of uterus. During the surgery, the giant multiloculated cystic mass was identified as mucinous cystadenoma on frozen section. Bilateral medial inguinal hernia was also identified.
DISCUSSION
MRKH coexisting with other disease is rare but considering other structures arising from paramesonephric duct (PMD) may exist, allows the possibility of other structural anomalies.
CONCLUSIONS
The present report illustrates a rare case of MRKH syndrome with giant ovarian cystadenoma and inguinal hernia.
PubMed: 38680771
DOI: 10.1093/omcr/omae036 -
Endocrinology and Metabolism Clinics of... Jun 2024This review focuses on primary amenorrhea and primary/premature ovarian insufficiency due to hypergonadotropic hypogonadism. Following a thoughtful, thorough evaluation,... (Review)
Review
This review focuses on primary amenorrhea and primary/premature ovarian insufficiency due to hypergonadotropic hypogonadism. Following a thoughtful, thorough evaluation, a diagnosis can usually be discerned. Pubertal induction and ongoing estrogen replacement therapy are often necessary. Shared decision-making involving the patient, family, and health-care team can empower the young person and family to successfully thrive with these chronic conditions.
Topics: Humans; Primary Ovarian Insufficiency; Female; Amenorrhea; Hypogonadism; Estrogen Replacement Therapy
PubMed: 38677871
DOI: 10.1016/j.ecl.2024.01.009