Amenorrhea Research Articles

Ectopic adrenocortical adenoma characterized by hypogonadism: a case report and review of the literature

BackgroundCurrently, there is a scarcity of cases and diagnostic data regarding ectopic adrenocortical adenomas, particularly in relation to their impact on gonadal function and localization diagnostic techniques. We report a typical case of ectopic adrenocortical adenomas and the data of treatment follow-up, and review the literature of 31 available cases of ectopic adrenocortical adenomas.Case presentationA 27-year-old Chinese female patient was admitted to our hospital for hypertension, hyperglycaemia and primary amenorrhea. The patient was functionally diagnosed with ACTH-independent CS and hypogonadotropic hypogonadism. Radiological evaluations, including Computed Tomography (CT) and functional imaging, identified a mass at the left renal hilum. Histological assessments post-surgical excision confirmed the mass to be an ectopic adrenocortical adenoma. A subsequent 3-month follow-up showed no signs of disease recurrence, a swift recovery of the cortisol axis was observed, with a partial recuperation of the gonadal axis. Review: Our literature review shows that the most common ectopic areas of cortisol adenomas are renal hilum and hepatic region. The most positive biomarker is Melan A, and only a few cases have been diagnosed with functional localization.ConclusionEctopic adrenocortical adenomas may be asymptomatic in the early stage and can impact gonadal function. Physicians who treat hypogonadism must be aware of the need to test cortisol levels and perform functional localization in patients with lumps present.

Making scents of hemi-anosmia in a woman presenting with secondary amenorrhoea

Making scents of hemi-anosmia in a woman presenting with secondary amenorrhoea

Mayer–Rokitansky–Küster–Hauser syndrome managed with McIndoe’s vaginoplasty: a case series and literature review

Introduction: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a congenital anomaly characterized by the absence of the uterus and the upper two-thirds of the vagina. It is a rare congenital anomaly with an incidence of 1 in 5000 female live births. Case series: The authors describe three cases of females presenting with primary amenorrhoea who were diagnosed with MRKH syndrome. The patients were managed with McIndoe’s vaginoplasty with neovagina creation with an amnion graft. Discussion: Management of MRKH syndrome involves vaginoplasty with neovagina creation. The approach to neovagina creation can be done surgically or non-surgically. Non-surgical creation of the vaginal cavity involves serial use of vaginal dilators, while there are several ways for surgical creation of neovagina. The modified Abbe-McIndoe procedure using amnion to create neovagina is a minimally invasive, rapid, and simple procedure with no risk of immune rejection because the amnion membrane lacks histocompatibility antigens. In addition, the graft is also readily available, storable, and inexpensive. Conclusion: Diagnosis of MRKH syndrome can be made when a young female with primary amenorrhoea and normal secondary sexual characteristics has agenesis of the uterus, and upper two-thirds of the vagina revealed on ultrasonography or magnetic resonance imaging. The patient can be offered treatment with vaginoplasty with neovagina creation.

Pubertal Delay Secondary to Hashimoto's Disease in the Hypothyroid Phase: About a Case in the Internal Medicine Department of the Gabriel Touré University Hospital in Bamako, Mali

Introduction: Pubertal delay is defined by the absence of development of secondary sexual characteristics beyond the age of 13 in girls or 14 years in boys. In children of puberty age, delayed puberty is common in long-standing, untreated hypothyroidism. We report a case of delayed puberty revealed by Hashimoto's disease in the hypothyroid phase diagnosed in the Internal Medicine department of the Gabriel Touré University Hospital in Bamako, Mali. Observation: This was a female patient, aged 20 years old, without any particular medico-surgical ATCD or notion of taking medication, who had consulted at the end of 2021, in the Internal Medicine department of the University Hospital Gabriel Touré from Bamako for primary amenorrhea and delayed puberty. At the end of the clinical and paraclinical examination, a hypometabolism syndrome and pubertal delay were noted. On an evolutionary level, development of secondary sexual characteristics (From T1 to T3, and appearance of menstruation) after one year of treatment. Conclusion: Delayed puberty may be the consequence of hypothyroidism. Opotherapy with L Thyroxine helps restore normal pubertal development.

The Relationship between Sleep Quality and Stress Levels with The Menstrual Cycle in Final Year Midwifery Student, Faculty of Medicine, Brawijaya University

Background: Stress is a condition when a person is unable to accepted the demands and pressures that exist. Sleep quality can be assessed by sleep duration, sleep latency, sleep disturbance and daytime functioning. Poor sleep quality can cause physiological function disorders in the body, especially hormonal disorders related to the menstrual cycle. Hormonal disorders in a woman's body caused menstrual cycle irregularities such as secondary amenorrhea, polymenorrhea and oligomenorrhea Every woman will experience a different menstrual cycle based on the condition of their individual bodies. Menstruation can be affected by stress levels and sleep quality. Objective: Knowing the relationship between sleep quality and stress levels with the menstrual cycle in final year midwifery students Medical Faculty Universitas Brawijaya. Methods: This study used a cross sectional design. The sample used according to the inclusion and exclusion criteria was 63 students. This research instrument used PSQI questionnaire, DASS questionnaire and menstrual cycle questionnaire. Bivariate analysis was performed with Chi Square test and Fisher's Exact test, and multivariate analysis was performed with logistic regression test. Results: There was no significant relationship between sleep quality and menstrual cycle (p-value 0.584) and there was no significant relationship between stress level and menstrual cycle (p-value 0.469) in final year Midwifery students Medical Faculty Universitas Brawijaya. More in-depth research is needed related to other factors that cause students' menstrual cycles to be disrupted.

Chromosomal and Hormonal Analysis of Women with Primary Amenorrhea in Iraq

Chromosomal and Hormonal Analysis of Women with Primary Amenorrhea in Iraq

Risk and prevalence of Relative Energy Deficiency in Sport (REDs) among professional female football players.

A high prevalence of low energy availability (LEA) has been reported in female football players. This is of concern as problematic LEA may evolve into a syndromic pattern known as relative energy deficiency in sport (REDs). Given the difficulties in accurately assessing LEA, our study shifts emphasis to measurable indicators of REDs, serving as proxies for health detriments caused by LEA. The present cross-sectional study aimed to quantify the risk of REDs and to assess the prevalence of indicators indicative of the syndrome. 60 players (tiers 3 and 4) from three Norwegian football teams were analyzed as a single cohort but also stratified based on player position and menstrual status. The proportion of players at risk for REDs was 22%, that is, 17% with mild, 3% with moderate to high, and 2% with very high/extreme risk, respectively. The majority of the cohort (71%) presented with no primary indicators, while 20%, 7%, and 2% presented with one, two, and three primary indicators, respectively. Regarding secondary indicators, 57% had none, 33% had one, and 10% had two indicators. For associated indicators, 30% had none, 42% had one, 18% had two, 8% had three, and 2% had four indicators. Player position did not affect the prevalence of REDs indicators. Among noncontraceptive users (n=27), secondary amenorrhea (AME) was reported by 30%. These findings indicate that health and performance teams should prioritize universal health promoting strategies rather than selective or indicative strategies. Particularly, focus on nutritional periodization to secure sufficient energy availability, mitigating the risk of problematic LEA and REDs should be addressed.

Chromosomal abnormalities in primary and secondary amenorrhea

Background: Menstruation is an important physiological function of the female reproductive system. The absence of menstruation is called amenorrhea. Many genetic and nongenetic causes are responsible for primary or secondary amenorrhea. This study aimed to determine the types chromosomal abnormalities among patients with primary or secondary amenorrhea. Methods: It was a cross-sectional study conducted in the Department of Pathology, Bangabandhu Sheikh Mujib Medical University, Dhaka, from September 2019 to August 2021. A total of 115 women who had come for a karyotype test with complaints of pathological amenorrhea were purposively selected. One hundred five cases presented with primary amenorrhea, and 10 cases presented with secondary amenorrhea. Karyotype analysis in peripheral blood by G-banding was carried out using the standard method. Results: Among the 105 patients with primary amenorrhea, 53.3% of patients had a normal karyotype (46, XX), and 46.6% had chromosomal abnormalities (numerical or structural). Turner syndrome classic, 45, XO (16.2%) and 46, XY DSD (Disorders of Sexual Development) (11.4%) were the two most frequent chromosomal abnormalities found in the patients with primary amenorrhea. Among the 10 cases with secondary amenorrhea, seven patients had normal karyotype, and three patients had chromosomal abnormalities (2 had sex chromosomal abnormalities, and 1 had a structural abnormality of autosome). Conclusion: The study of chromosomal abnormalities will help in the early and accurate diagnosis of the underlying aetiology of primary or secondary amenorrhea. It will also help in the management and proper counselling of cases.

A Case Report of 46 XY Partial Gonadal Dysgenesis with Dual Gonadal Tumours

46XY gonadal dysgenesis is known as a disorder of sex development (DSD) that occurs due to abnormality in gonadal development. There is a conflict between one’s genotype, phenotype, and gonadal development, which influences the wide range of presentation and clinical appearance of 46XY females. This was a case of a 46XY female who presented with primary amenorrhea with delayed puberty at the age of 18 years old. She had ambiguous genitalia. Her breast and pubic hair were at Tanner Stage 2. Transabdominal ultrasound found a small uterus with a vagina; however, the gonads were not seen. A magnetic resonance imaging (MRI) showed a 20mm right gonad located extra-pelvis near the right iliac vessels while the 9mm streak left gonad was at the usual location next to the sigmoid colon. All her tumour markers were normal except lactate dehydrogenase (LDH) was elevated. She was given estrogen therapy for pubertal induction and underwent laparoscopy prophylactic bilateral gonadectomy. The intraoperative findings were similar to the MRI findings, and the histopathology examination (HPE) results showed left gonadoblastoma and right dysgerminoma FIGO stage 1A. She continued taking estrogen therapy until she had withdrawal bleeding, and oral progesterone was added. 46XY-DSD has high risk of developing germ cell tumour and requires prophylactic gonadectomy as soon as the diagnosis is established. However, delay in presentation and surgery may affect the outcomes and prognosis.

Management of Bilateral Borderline Ovarian Tumor in a 26-year-old Patient in a Resource-Limited Setting

<i>Background</i>: borderline ovarian tumors are rare epithelial tumors, more common before the age of 40, with challenging preoperative diagnosis. Our aim is to describe the management of a case in a resource-limited context in Burkina Faso. <i>Case report:</i> a 26-year-old primigravida with a 4-year-old child presented with an abdominal mass evolving over one year in the context of secondary amenorrhea. Clinical examination revealed weight loss, cutaneous-mucosal pallor, increased abdominal volume with tender deep palpation, and an irregular, mildly firm mass around the umbilicus extending to the iliac fossae, with a depressed area along the midline. Speculum examination was normal. On vaginal examination, the cervix was unremarkable, the uterus was of normal size, but the lateral fornices and Douglas pouch were filled. Further investigations revealed microcytic hypochromic anemia and a borderline normal CA 125 level. The rest of the laboratory tests were normal. Abdominal and pelvic ultrasound and CT revealed a strong suspicion of a bilateral ovarian tumour, with no signs of secondary localisation. MRI was not available. The diagnosis of probably malignant bilateral ovarian tumour was retained, and laparotomy was indicated. When the parietal peritoneum was opened, two ovarian tumours with a budding appearance occupied the entire lower half of the abdomen. A part of the omentum was in contact with both masses. Bilateral adnexectomy, total hysterectomy and partial omentectomy were performed in the absence of an extemporaneous histological study. Histological study of the surgical specimens concluded that the tumour was borderline ovarian. Follow-up at 3 years showed no signs of recurrence or tumour extension. <i>Conclusion</i>: borderline ovarian tumours are managed surgically, and the choice of conservative or radical surgery is not easy when there is a desire to have children, and when the ovaries are bilaterally involved. Fortunately, the vital prognosis is favourable.

A case of Mayer-Rokitansky-Kuster- Hauser syndrome type I

Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder characterised by absence of uterus and vagina. Ovaries and fallopian tubes are normal and functional. Its incidence is 1 in 4500-5000 female. Patients present with primary amenorrhea with normal external genitalia and development of secondary sexual characteristics, and 46XX karyotype. It is usually diagnosed by MRI, CT or transabdominal USG, with MRI being the gold standard.

Genetic analysis for a female carrying idic(Y)(p11.32) with Disorders of sex development

To explore the genetic basis for a patient with Disorders of sex development (DSD). 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. 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). The abnormal mosaicism karyotype probably underlay the DSD in this patient.

Sonographic vascularity indices' study in ectopic pregnancies, after methotrexate treatment

ObjectivesEctopic pregnancy is a crucial problem in Gynaecology. Previous studies concerning the medical treatment of ectopic pregnancies, have used only β-hCG (beta- human chorionic gonadotropin) values, to monitor the successful response to treatment. The current study was a PhD (Doctorate of Philosophy) thesis research, which has evaluated the vascularity indices’ changes. The values of vascularity indices could be used, in combination with β-hCG values and the gestational sac dimensions, in every medically treated ectopic pregnancy. The results could be used, for monitoring the course of all medically treated ectopic pregnancies. Study design72 women of reproductive age have taken part in the study. They have been admitted due to secondary amenorrhea, positive β-hCG test, with or without vaginal bleeding. The participants took part voluntarily and were allocated in two groups. The first group consisted of 37 women, who were possible normal or threatened intrauterine pregnancies (control group). The second group consisted of 35 women, whose sonographic findings suggested ectopic pregnancy, and qualified for methotrexate treatment (study group). Sonographic control and measurement of the vascularity indices (PI – RI) (Pulsatility index – Resistance index) of the ectopic pregnancy was conducted, in combination with β-hCG values for every admitted or outpatient woman.The dimensions of the gestational sac of both groups were measured during four consecutive periods of time. The control group has shown progressively increasing sac dimensions, whereas, in the study group sac dimensions were more stable or growing gradually smaller. The exception where those ectopic pregnancies that ruptured, which have also shown a gradual enlargement of the sac. ResultsThe endometrial thickness of the study group was gradually decreasing up to 76 % per day, and the more eminent, but not statistically significant decrease, was observed in the single dose regiment of methotrexate. Moreover, the quantitative PI and RI were evaluated, and the main finding was that there were no statistically significant decreases in any of the two groups. Concerning the study group, methotrexate treatment was successful, since there was a decrease of up to 80 %, whereas a clearly significant correlation was found between the β-hCG levels and the RI. ConclusionThe vascularity indices could be used safely, in combination with β-hCG levels and the decrease of the gestational sac dimensions, as criteria for the evaluation of response to medical treatment of ectopic pregnancies.

Primary amenorrhoea - cytogenetic study in 40 Indian women

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.

Secondary amenorrhea - an inconspicuous presentation of sporadic MEN1 syndrome

Secondary amenorrhea - an inconspicuous presentation of sporadic MEN1 syndrome

Sertoli-Leydig Cell Tumour in a Patient with Ambiguous Genitalia and Congenital Adrenal Hyperplasia

Background: Hyperandrogenism, characterized by elevated levels of male hormones such as testosterone, presents various clinical manifestations including secondary amenorrhea, hirsutism, and clitoromegaly. While often associated with polycystic ovarian syndrome, other differentials such as Sertoli-Leydig cell tumors and Congenital Adrenal Hyperplasia (CAH) are critical to consider. These conditions can manifest at different life stages and are seldom seen together. Objective: This case study aims to explore the rare co-presentation of CAH and a Sertoli-Leydig cell tumor in a patient presenting with secondary amenorrhea and ambiguous genitalia, and to discuss the diagnostic challenges and management strategies involved. Methods: A 16-year-old female presented with irregular menstrual cycles and secondary amenorrhea, alongside symptoms of hyperandrogenism such as voice deepening and hirsutism. Diagnostic procedures included physical examinations, ultrasound imaging, and hormone level assessments. A detailed ultrasound revealed a large right-sided ovarian mass, and biopsies confirmed a Sertoli-Leydig cell tumor. Surgical intervention involved the excision of the mass, with subsequent histopathological examination. The patient underwent three cycles of chemotherapy and was scheduled for reconstructive surgery. Results: Ultrasound dimensions of the ovarian mass were 7.2 x 13.4 x 16 cm, with the post-surgical tumor measuring 18 x 17 cm. Laboratory findings included testosterone levels above 200 ng/ml, and elevated alpha-fetoprotein levels. The histopathological report confirmed a poorly differentiated Sertoli-Leydig cell tumor (FIGO stage 1a). Post-treatment follow-up showed a marked reduction in androgen levels and stabilization of the patient's menstrual cycle. Conclusion: The coexistence of CAH and a Sertoli-Leydig cell tumor presents unique diagnostic and therapeutic challenges. This case emphasizes the importance of a thorough evaluation and a multidisciplinary approach in the management of complex hyperandrogenic states to achieve optimal clinical outcomes.

Mayer–Rokitansky–Kuster–Hauser Syndrome Type II with Mullerian Duct Aplasia–Renal Dysplasia–Cervical Somite Anomalies Association: A Case Report and Review of Literature

Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome, also known as Mullerian aplasia/Mullerian agenesis, is characterized by the absence of the uterus and upper two-thirds of the vagina in women who have normal ovarian function and secondary sexual characteristics. The syndrome occurs at a rate of approximately 1 in every 4500–5000 females. Its primary clinical presentation is primary amenorrhea. MRKH syndrome varies in severity and is classified into two types: type I, which is isolated, and type II, involving abnormalities in other organ systems, particularly the kidneys and skeleton. Due to the nature of this condition, individuals with MRKH syndrome may experience significant psychological challenges, highlighting the importance of counseling. This case report describes the diagnosis of type II MRKH syndrome in a 14-year-old girl with primary amenorrhea, also associated with Mullerian duct aplasia–renal dysplasia–cervical somite anomalies.

Estimation of prakriti (body constitution) in women of Eastern Maharashtra tribal belt of central India featuring early and premature menopause.

Prakriti (body constitution) is the essential fundamental of Ayurveda. In female physiology, it plays a crucial role in determining the age of menarche and menopause. Recent research has shown that early menopause occurs in tribal women. Vagbhata states that a kapha dosha pradhan prakriti female has a longer menstrual life [i.e., reproductive period] compared to the vata and pitta prakriti females. This study was done to estimate prakriti in females who attain early and premature menopause in the tribal population to provide optimal care for tribal women through primary and whole health systems. This cross-sectional questionnaire survey study was carried out in four villages of Nagpur district territory of Eastern Maharashtra, the central zone of India after seeking permission from IEC. A multistage sampling technique was used to select the 80%, and above tribal people, 169 married women who attained early or premature menopause were included. Post-menopausal women were selected for the study, and females with hysterectomy, secondary amenorrhea, and other major illnesses were excluded from the study. Data were collected by survey method with the help of a pre-validated questionnaire. Out of 169 females 57.98% of females were of vata prakriti, 24.85% of females were of pitta prakriti, and 17.15% of females were of kapha prakriti. The prevalence of early or premature menopause of vata prakriti females is 57.98. Vata dosha characteristics such as ruksha, laghu, sheeta, and khara in vata prakriti females lead to early or premature menopause. To avoid early or premature menopause in tribal females, ghee (ghrit) and milk can be included in dietary habits, lifestyle modification, and awareness counseling may prove beneficial. Early or premature menopause is observed largely in vata prakriti females of Nagpur district, Eastern Maharashtra, tribal zone of Central Inda.

First and second-generation endometrial ablation devices: A network meta-analysis

ObjectiveFirst-generation and second-generation endometrial ablation (EA) techniques, along with medical treatment and invasive surgery, are considered successful lines of management for abnormal uterine bleeding (AUB). We set out to determine...

Anatomical and Functional Evaluation of Modified Abbe-McIndoe Vaginoplasty at a Tertiary Care Hospital.

Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome, the second important cause of primary amenorrhea, is characterized by complete mullerian agenesis in the presence of normal karyotype and normal functioning ovaries. Incidence is one in 4500 females. Treatment options include surgical and non-surgical methods. Surgical treatment by creating a neovagina between bladder and rectum is preferred as it gives immediate results. To evaluate the anatomical and functional outcomes of modified vaginoplasty procedures conducted in our institution. An ambispective cohort study was conducted in the Department of Obstetrics and Gynaecology, at a tertiary care hospital and included 10 cases of MRKH syndrome, who underwent surgical treatment in our department. Postoperative outcome was noted. Sexual function was evaluated using the Female Sexual Function Index (FSFI) score. The mean duration of surgery was 40 minutes. The average blood loss during surgery in patients undergoing vaginoplasty was 60 ml. The mean length of the neovagina as measured 1 month after surgery was 7.9 cms. FSFI score was >30 in eight patients. Two patients were lost to follow-up. Modified McIndoe vaginoplasty is a simple, safe, and cost-effective procedure in the hands of experts. Only mature patients willing to follow the instructions and planning to get married soon should undergo this surgery.