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.

A local audit evaluating bone health in patients with functional hypothalamic amenorrhoea secondary to an eating disorder and a review of the application of hormone therapy in this clinical setting.

It is widely known that estrogen has a fundamental role to play in skeletal homeostasis. In the most reductionist sense, the action of estrogen can be surmised as anti-resorptive. Estrogen prevents the break-down of bone. It therefore follows that estrogen deficiency states, such as the menopause and functional hypothalamic amenorrhoea (FHA), are often characterised by increased bone remodelling and disrupted skeletal homeostasis. FHA is the cessation of menstruation secondary to abnormal signalling between the hypothalamus and pituitary gland due to deficient pulsatile secretion of Gonadotrophin Releasing Hormone (GnRH). Functional hypothalamic amenorrhoea is frequently a consequence of women suffering with eating disorders. The development of FHA secondary to eating disorders is an evolutionary adaptive response to chronic metabolic energy deficiency. Fundamentally, preservation of life is biologically prioritised over dispensable physiological process such as reproduction. Consequently, the hypothalamic-pituitary-ovarian (HPO) axis fails, which disrupts menstrual function and ovulation, culminating in a state of estrogen deficiency. One of the most important and long-lasting deleterious consequences of FHA is disrupted skeletal homeostasis and bone loss. Estrogen replacement, most commonly in the form of combined hormone replacement therapy (HRT) or the combined oral contraceptive pill (COCP), is advised for women with an early menopause to prevent bone loss. Arguably, estrogen replacement should also be utilised in the context of FHA. However, the optimum estrogen regime for women with FHA remains under-researched and so management is not evidence-based.

Predictive Effects of Early Pregnancy Lipid Profile and Fasting Plasma Glucose on the Risk of Gestational Diabetes Mellitus.

INTRODUCTION: Gestational diabetes mellitus's (GDM's) prevalence in Sri Lanka ranges from 5.5% to 11.5%. It is associated with maternal and perinatal complications, emphasizing the need for early screening and intervention. This study aims to determine the predictive effect of early pregnancy lipid profile and fasting plasma glucose for GDM. METHODS: It is a prospective cohort study of 172 pregnant women attending antenatal clinics at a tertiary hospital in Jaffna, Sri Lanka. Prediction was derived by calculating odds ratios (ORs) and 95% confidence intervals (CIs) in multivariable logistic regression, assessing lipid and glucose effects on GDM risk. RESULTS: The study included 172 participants (mean age: 29.84±5.38). GDM's prevalence was 16.9%, and 57.14% of these mothers were obese. Significant differences in fasting plasma glucose (FPG) values were observed between the first visit and at 24-28 weeks. GDM mothers showed elevated total cholesterol and low-density lipoprotein (LDL) levels. Triglyceride (TG) levels correlated significantly with FPG at the Point of Assessment (POA), identifying a 0.945 mmol/L cutoff with 75% sensitivity and 77.1% specificity. Logistic regression confirmed a significant TG-GDM relationship. There is an association between FPG levels measured in early pregnancy and the likelihood of developing GDM later on. Specifically, when FPG levels in early pregnancy surpass a cutoff value of 3.94 mmol/L, there is an increased risk of GDM, indicated by an OR of 3.81 Conclusion: Early pregnancy FPG and TG levels are potential markers for predicting GDM. FPG shows higher predictive efficacy than TG. Total cholesterol, LDL, and high-density lipoprotein (HDL) lack predictive ability.

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.

Primary amenorrhoea is a common gynecological disorder reported in adolescent girls, often linked to chromosomal abnormalities. In Eastern India, including West Bengal, where cytogenetic analysis is still in its nascent stage, late diagnosis and limited access to curative management are prevalent issues. A study conducted from January 2021 to May 2023 at Nirnayan Healthcare, Kolkata aimed to evaluate chromosomal abnormalities in 40 PA cases. Out of these, 28 exhibited normal karyotypes (46,XX); one patient was reported with 46,XX,9qh + which is considered a normal karyotype, while the remaining 11 revealed diverse abnormalities, including 45,X; sex reversal & several structural variations. The study underscores the significance of cytogenetic analysis in the early diagnosis of Primary Amenorrhoea. Early karyotyping not only facilitates judicious management but also ensures a better lifestyle for affected girls.

High prevalence of stress fractures and long-term amenorrhoea in high endurance female athletes: The misleading lack of correlation with bone mineral density.

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.

A Rare Case of Hematometrocolpos due to Transverse Vaginal Septum along with Distal Vaginal Atresia in an Adolescent Girl.

Primary amenorrhoea due to Müllerian malformations is rare, with 1 in 4500 cases and 2%-8% of cases presenting as infertility. Obstructive Müllerian anomalies present as hematometra and hematocolpos during puberty. Timely surgical intervention is required to relieve acute pelvic pain and restore functional anatomy. A 15-year-old girl presented to OPD with complaints of severe pain in her lower abdomen and lower back for the last 2-3 weeks, not relieving on medication. She has not attained menarche and has been having cyclical pain and low backache for 7-8 days every month for the last year. Physical examination showed a suprapubic lump with vaginal agenesis. Magnetic resonance imaging revealed hematometrocolpos due to transverse vaginal septum and distal vaginal atresia. Pull-through vaginoplasty along with complete excision of transverse vaginal septum was performed. Vaginal dilator therapy was done after the healing of the sutures. In follow-up, the patient attained menstruation with a patent vagina. Obstructive Müllerian anomalies should be identified early by detailed clinical examination and targeted investigations to prevent long-term morbidity and infertility.

Secondary amenorrhea as the first presentation of Krukenberg tumor arising from the gastroesophageal junction in a 34-year-old woman: A case report.

INTRODUCTION: Krukenberg tumors account for 9 % of metastatic ovarian tumors, they usually originate from the stomach and colon and are microscopically characterized by the presence of mucus-filled signet-ring cells. Krukenberg tumor originating from the gastroesophageal junction is extremely rare, which limits establishing proper diagnosis and management. PRESENTATION OF CASE: A 34-year-old women presented with a complaint of amenorrhea, ultrasonography showed bilateral ovarian masses, pathological studies revealed Krukenberg tumor, immunohistochemistry of the tumor was positive for (CK1, and CK20). Upper GI endoscopy revealed the primary lesion located at the inferior esophagus and extending to the cardia. Despite marked improvement after introducing a chemotherapy regimen of oxaliplatin, calcium folinate and fluorouracil, the patient refused to complete her therapeutic course and died 5 months after discontinuation. DISCUSSION: Krukenberg tumor may be asymptomatic but may also manifest as pelvic pain, bloating, and menstrual cycle abnormalities. Immunohistochemistry of Krukenberg tumor is mandatory to determine the primary tumor. Positivity of CK1, CK20 and negativity of CK7 indicates the gastrointestinal origin of the tumor. Different choices are available for the management of Krukenberg tumor but it still has a poor prognosis with an average survival rate of 14 months. CONCLUSION: Krukenberg tumor from the esophagus is rare and still enigmatic in terms of management. In this article, we aim to draw attention into possible presentations of the tumor by providing the first case in Syria of Krukenberg tumor originating from the esophagus and presenting as secondary amenorrhea and bilateral adnexal masses.

Challenges and diagnosis in therapy of secondary amenorrhoea in caesarean section patient with postpartum haemorrhage B-lynch sutures: a case report.

Introduction and importance: International Federation of Gynecology and Obstetrics (FIGO) and WHO report the incidence of postpartum haemorrhage (PPH) reaches 1-10% and contributes to an increase in postpartum maternal mortality with uterine atony as the most common cause. B-Lynch method is a suturing technique to overcome PPH. Although this method has proven useful as an emergency life-saving measure, the post-procedure complications are still able to occur. Presentation of case: The patient was not menstruating for 14 months after giving birth through caesarean section with B-Lynch due to PPH. Before pregnancy, she had regular menstruation cycle and normal menstrual duration. Her general and gynaecological status were normal. Ultrasound showed the impression of uterine hypoplasia and endometrium that were difficult to assess while both ovaries were normal. Diagnostic hysteroscopy showed a severe degree of Asherman's syndrome. The results of FSH, LH and estradiol were normal. Discussion: B-lynch suture is performed as a method to stop PPH in uterine atony. Secondary amenorrhoea occurs as a complication of B-lynch. Compression action of B-lynch can cause progressive myometrium necrosis resulting in synechiae and blockade of uterine blood flow. This will interfere with the development of the uterus. Intrauterine adhesions and amenorrhoea with normal levels of FSH, LH, and estradiol support the diagnosis of Asherman's syndrome. Conclusion: This case shows that the B-Lynch procedure, which is the worldwide recommended method for treating postpartum haemorrhage due to its high success rate, can cause complications of Asherman's syndrome and cause secondary amenorrhoea.

Characteristics of bone mineral density in patients with functional hypothalamic amenorrhoea and its association with reproductive hormones and body composition.

OBJECTIVE: Bone mineral density (BMD) is typically reduced in patients with female athlete triad (FAT) and anorexia nervosa (AN). However, bone health in most patients with functional hypothalamic amenorrhoea (FHA), who may not suffer from severe energy deficiency, has not received adequate attention in clinical practice. This study aimed to investigate BMD and its association with clinical and endocrine features in individuals with FHA and to provide clinical evidence for improving bone loss and preventing osteoporosis in FHA. DESIGN: To assess the bone status of patients with FHA and investigate its association with various clinical and endocrinological characteristics. PATIENTS: We retrospectively analysed 80 patients with FHA who attended the Obstetrics and Gynecology Hospital of Fudan University from January 2022 to March 2023. MEASUREMENTS: The levels of reproductive hormones, including luteinising hormone (LH), follicle-stimulating hormone, oestradiol (E2 ) and total testosterone (TT), were examined at the time of initial diagnosis, and a body composition analyser was used to measure body fat percentage (BF%), lean body mass (LBM) and segmental muscle/fat. Dual-emission X-ray absorptiometry was used to measure lumbar spine BMD and femoral neck BMD in patients with FHA, and the Z score was calculated. RESULTS: The study cohort consisted of 80 female patients with FHA. The average age of the patients was 24.64 ± 6.02 years, and their body mass index (BMI) was 19.47 ± 2.86 kg/m2 . The duration of weight loss was 12 (6, 24) months, while the duration of oligo/amenorrhoea was 12 (4.5, 24) months. The mean degree of weight loss was 18.39 ± 9.53%. Low BMD were present in 15% of patients with FHA at the lumbar spine and/or femoral neck; 12.5% and 10% had low bone mass at the lumbar spine and femoral neck, respectively. The low bone mass group experienced a longer period of weight loss than the normal group [24 (16.5, 60) vs. 12 (4.5, 24) months, p = .037]. In addition, the abnormal group had a lower BMR (basal metabolic rate, BMR) [1158 ± 85 vs. 1231 ± 91 kcal/day, p = .011] and lower bone mineral content [2.15 ± 0.26 vs. 2.43 ± 0.31 kg, p = .009] than the normal group. Both LBMD and femoral neck BMD (Fn BMD) were positively correlated with BMI, BF%, LBM, and regional muscle/fat mass (all p < .05). There was also a positive correlation between LBMD and basal LH levels (p = .009) and waist-to-hip ratio (p = .034), whereas Fn BMD was positively correlated with TT levels (p = .029). Multiple linear regression analysis showed that LBM was positively associated with LBMD (ß = .007, 95% confidence interval [CI] = 0.004-0.009, p < .001), while trunk muscle mass was positively associated with Fn BMD (ß = .046, 95% CI = 0.013-0.080, p = .008). CONCLUSION: Fifteen percent of the patients with FHA exhibited low bone mass, a condition associated with prolonged weight loss. The basal LH and TT levels showed positive correlations with LBMD and Fn BMD, respectively. Meanwhile, BMR levels, BMI, BF%, and muscle mass were all positively correlated with LBMD and Fn BMD. Clinically, we should be attentive to suboptimal bone health in patients with FHA and take early screening, diagnosis and intervention measures, especially appropriate muscle mass gain, to prevent the onset of osteoporosis and fragility fractures in the long term.

Issues of identity, perceptions and isolation: An interpretative phenomenological analysis of women's experience of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

The objective of this study was to explore the personal experience of women with MRKH, a rare condition characterised by congenital abnormalities of the genital tract. There are very few qualitative studies into the lived experiences of women with MRKH. Interviews were conducted with 13 women with MRKH and analysed using interpretative phenomenological analysis. Four superordinate themes are discovered: maintaining a viable female identity; acceptance and coping; normality, secrecy and shame and the isolating impact of a lack of knowledge amongst the medical profession. This study also suggests that societal ideals of a 'normal woman' are influencing how MRKH impacts on the self-experienced psychological health. It is suggested that the psychological wellbeing of women with MRKH could be improved with continued multidisciplinary support beyond the initial diagnosis and alongside any vaginal correction.

Sheehan's Syndrome in India: Clinical Characteristics and Laboratory Evaluation.

Background: Sheehan's Syndrome (SS) is an important cause of hypopituitarism especially in developing countries though it remains underdiagnosed to a great extent. Torrential bleeding after delivery followed by lactation failure and amenorrhoea gives a clue to the diagnosis which is usually made after several years of delivery. Materials and Methods: It was a retrospective observational study conducted by reviewing the case records of 38 cases of SS. The age, anthropometric measurements, signs and symptoms, biochemical parameters, hormone levels and imaging reports were examined and analyzed. Results: The mean age at presentation was 36.5 years because there was a delay of 8.4 years from last delivery before diagnosis could be made. Ninety percent patients presented with lactation failure. Anaemia, hypotension, hypogonadism, hypothyroidism, and altered lipid profile were the most common findings. The mean systolic blood pressure (BP) was 80.95 mm and diastolic BP was 51.6 mm of Hg at the time of presentation. Hyponatremia was the most common electrolyte abnormality noted and low HDL was the commonest lipid abnormality. Conclusion: A large percentage of patients presented with amenorrhea, lactation failure, and decreased or absent axillary/pubic hair. Shock, anemia, and hyponatremia were also common symptoms among the patients studied. The diagnosis of SS rests upon a thorough history taking of the postpartum events in cases presenting with hypopituitarism irrespective of the age at presentation. Proper antenatal care with exclusive institutional deliveries can reduce the prevalence of SS in developing countries.

New insights into the role of LH in early ovarian follicular growth: a possible tool to optimize follicular recruitment.

Evidence shows that LH participates in enhancing transition from the early stage to the antral stage of folliculogenesis. It has been demonstrated that functional LH receptors are expressed, albeit at a very low level and even in smaller follicles, during the phase that was traditionally considered to be gonadotrophin independent, suggesting a role for LH in accelerating the rate of progression of non-growing and primary follicles to the preantral/antral stage. Hypogonadotropic hypogonadism, together with other clinical conditions of pituitary suppression, has been associated with reduced functional ovarian reserve. The reduction in LH serum concentration is associated with a low concentration of anti-Müllerian hormone. This is the case in hypothalamic amenorrhoea, pregnancy, long-term GnRH-analogue therapy and hormonal contraception. The effect seems to be reversible, such that after pregnancy and after discontinuation of drugs, the functional ovarian reserve returns to the baseline level. Evidence suggests that women with similar primordial follicle reserves could present with different numbers of antral follicles, and that gonadotrophins may play a fundamental role in permitting a normal rate of progression of follicles through non-cyclic folliculogenesis. The precise role of gonadotrophins in early folliculogenesis, as well as their use to modify the functional ovarian reserve, must be investigated.

Composición corporal y evolución nutricional en adolescentes con anorexia nerviosa / Body composition and nutritional status changes in adolescents with anorexia nervosa

Introducción: La valoración nutricional en anorexia nerviosa (AN) incluye determinar la composición corporal y monitorizar su evolución a lo largo del periodo de tratamiento. La prueba gold standard para el estudio de la composición corporal es la absorciometría de rayos X de energía dual (DEXA), si bien la bioimpedancia eléctrica (BIA) se postula como una alternativa más accesible, barata, rápida y que no irradia. Material y métodos: Se reclutaron secuencialmente a 33 mujeres adolescentes (11,7-16,3 años) diagnosticadas de AN. Se recogieron parámetros clínicos, antropométricos y analíticos, y se realizó BIA y DEXA a la inclusión en el estudio y a la finalización del mismo con separación media de un año, durante la fase de rehabilitación nutricional. Resultados: Se objetivó mejoría significativa a nivel nutricional, reflejada en la composición corporal obtenida mediante antropometría y BIA. El ángulo de fase aumentó significativamente durante el periodo de seguimiento. Una mayor pérdida ponderal se correlacionó con la presencia de amenorrea secundaria y con una menor densidad mineral ósea en columna. Conclusiones: La BIA es una herramienta útil para la valoración y el seguimiento del estado nutricional en pacientes con AN en edad pediátrica. La DEXA sigue siendo imprescindible para conocer la afectación de la densidad mineral ósea. El papel de hormonas como la leptina está aún por determinar. (AU)

Introduction: Nutritional status assessment in anorexia nervosa (AN) includes the evaluation and monitoring of body composition throughout the treatment period. The gold standard for the study of body composition is dual-energy X-ray absorptiometry (DEXA), although electrical bioimpedance (BIA) is a more accessible, cheaper and faster method that does not involve exposure to radiation. Material and methods: We recruited 33 female adolescents with AN (age, 11.7-16.3 years) by consecutive sampling. We collected data on clinical, anthropometric and laboratory variables. Patients were assessed with BIA and DEXA at inclusion in the study and at the end of the study, with a mean duration of followup of 1 year, during the nutritional rehabilitation phase. Results: There was significant improvement in nutritional status, reflected by the body composition obtained by anthropometric measurements and BIA. The phase angle increased significantly during the followup. Greater weight loss was associated with the presence of secondary amenorrhoea and decreased bone mineral density in the spine. Conclusions: Electrical BIA is a useful tool for assessment and monitoring of nutritional status in paediatric patients with AN. Dual-energy X-ray absorptiometry continues to be essential to assess bone mineral density. The role of hormones such as leptin remains to be elucidated. (AU)

Contraception, female cycle disorders and injuries in Swiss female elite athletes-a cross sectional study.

Aim: The national Olympic committee of Switzerland has conducted an online survey among female elite athletes with a focus on cycle disorders, contraception, and injuries in 2021. Methods: A total of 1,092 female elite athletes from 107 different sports were asked to answer the questionnaire. A descriptive analysis was carried out to determine location parameters and create frequency tables. Results: The questionnaire was completed by 408 athletes (37.4%) from 92 different sports. 43.4% participated in a lean sport. 57.1% reported no injuries, 32.6% one injury, and 10.2% two or more injuries per year. A considerable proportion reported being affected by primary amenorrhoea (10.8%). Primary amenorrhoea occurred significantly more often in female athletes with a BMI lower than 21.7 kg/m2 (15.2%) than in athletes with a BMI above 21.7 kg/m2 (7.4%, p = 0.021). Considering contraception, 25.8% of female athletes were currently using an oral contraceptive pill. The proportion of female athletes not using contraception at all or using non-hormonal contraceptive methods was high at 54.4%. In lean sports, significantly more athletes used no or non-hormonal contraceptives (p < 0.05). Conclusion: Among top Swiss female athletes, a considerable proportion used non-hormonal or no contraceptives. This trend was more evident in lean sports. Delayed menarche and cycle irregularities were common among female athletes, especially among athletes with high training volumes as well as a BMI below 21.7 kg/m2. This orienting survey underlines the importance of specialized gynecological care for elite female athletes.

Body composition and nutritional status changes in adolescents with anorexia nervosa.

INTRODUCTION: Nutritional status assessment in anorexia nervosa (AN) includes the evaluation and monitoring of body composition throughout the treatment period. The gold standard for the study of body composition is dual-energy X-ray absorptiometry (DEXA), although electrical bioimpedance (BIA) is a more accessible, cheaper and faster method that does not involve exposure to radiation. MATERIAL AND METHODS: We recruited 33 female adolescents with AN (age, 11.7-16.3 years) by consecutive sampling. We collected data on clinical, anthropometric and laboratory variables. Patients were assessed with BIA and DEXA at inclusion in the study and at the end of the study, with a mean duration of follow-up of 1 year, during the nutritional rehabilitation phase. RESULTS: There was significant improvement in nutritional status, reflected by the body composition obtained by anthropometric measurements and BIA. The phase angle increased significantly during the follow-up. Greater weight loss was associated with the presence of secondary amenorrhoea and decreased bone mineral density in the spine. CONCLUSIONS: Electrical BIA is a useful tool for assessment and monitoring of nutritional status in paediatric patients with AN. Dual-energy X-ray absorptiometry continues to be essential to assess bone mineral density. The role of hormones such as leptin remains to be elucidated.

Assessing hypothalamic pituitary gonadal function in reproductive disorders.

Reproductive conditions secondary to disorders of the hypothalamic-pituitary-gonadal (HPG) axis are common and are associated with important health implications and considerable psychosocial impact. Basal and dynamic tests enable interrogation of individual components of the HPG axis, facilitating diagnosis and understanding of the pathophysiology of reproductive disorders. Onset of puberty is controlled by hypothalamic gonadotrophin-releasing hormone (GnRH) neuronal function. To date, a dynamic test of hypothalamic function is not yet available. Therefore, accurate differentiation of pubertal disorders such as constitutional delay of growth and puberty (CDGP) and congenital hypogonadotrophic hypogonadism (CHH) as causes of delayed puberty is challenging due to similar clinical presentations and hormonal profiles. Likewise, although the two commonest reproductive disorders in women, polycystic ovary syndrome (PCOS) and functional hypothalamic amenorrhoea (FHA) have disparate hypothalamic function, oligo/amenorrhoea frequently poses a diagnostic conundrum owing to the overlap in the criteria used to define both conditions. This review aims to describe pubertal and reproductive disorders secondary to pathologies affecting the HPG axis. Challenges encountered in clinical practice in differentiating pubertal and reproductive conditions are reviewed in conjunction with the utility of baseline and dynamic endocrine tests to interrogate specific components of the HPG axis. We also highlight putative hypothalamic, pituitary, and gonadal markers in development that could improve the diagnosis of patients presenting with disorders of puberty or reproduction.

Ulipristal acetate versus levonorgestrel-releasing intrauterine system for heavy menstrual bleeding (UCON): a randomised controlled phase III trial.

Background: Heavy menstrual bleeding affects one in four women and negatively impacts quality of life. Ulipristal acetate is prescribed to treat symptoms associated with uterine fibroids. We compared the effectiveness of ulipristal acetate and the levonorgestrel-releasing intrauterine system at reducing the burden of heavy menstrual bleeding, irrespective of the presence of fibroids. Methods: This randomised, open-label, parallel group phase III trial enrolled women over 18 years with heavy menstrual bleeding from 10 UK hospitals. Participants were centrally randomised, in a 1:1 ratio, to either three, 12-week treatment cycles of 5 mg ulipristal acetate daily, separated by 4-week treatment-free intervals, or a levonorgestrel-releasing intrauterine system. The primary outcome, analysed by intention-to-treat, was quality of life measured by the Menorrhagia Multi-Attribute Scale at 12 months. Secondary outcomes included menstrual bleeding and liver function. The trial is registered with ISRCTN, 20426843. Findings: Between June 5th, 2015 and February 26th, 2020, 236 women were randomised, either side of a recruitment suspension due to concerns of ulipristal acetate hepatoxicity. Subsequent withdrawal of ulipristal acetate led to early cessation of recruitment but the trial continued in follow-up. The primary outcome substantially improved in both groups, and was 89, (interquartile range [IQR] 65 to 100, n = 53) and 94, (IQR 70 to 100, n = 50; adjusted odds ratio 0.55, 95% confidence interval [CI] 0.26-1.17; p = 0.12) in the ulipristal and levonorgestrel-releasing intrauterine system groups. Rates of amenorrhoea at 12 months were higher in those allocated ulipristal acetate compared to levonorgestrel-releasing intrauterine system (64% versus 25%, adjusted odds ratio 7.12, 95% CI 2.29-22.2). Other outcomes were similar between the two groups and there were no cases of endometrial malignancy or hepatotoxicity due to ulipristal acetate use. Interpretation: Our findings suggested that both treatments improved quality of life. Ulipristal was more effective at inducing amenorrhoea. Ulipristal has been demonstrated to be an effective medical therapeutic option but currently its use has restrictions and requires liver function monitoring. Funding: UK Medical Research Council and National Institute of Health Research EME Programme (12/206/52).

Swyer Syndrome Presenting as Dysgerminoma: A Case Report.

Complete gonadal dysgenesis with 46,XY karyotype is a clinical condition characterized by the absence of testicular tissue but with the presence of typical Müllerian structures in a phenotypically female individual. The condition presents as primary amenorrhoea or delayed puberty. Eventually, malignant neoplasms may arise. We report a case of a 16-year-old Indian male with Swyer syndrome presenting with primary amenorrhoea and with an earlier diagnosis of a malignant dysgerminoma in the right ovary.

Mayer-Rokitansky-Kuster-Hauser syndrome in a young female: diagnosis and treatment: a case report.

Mayer-Rokitansky-Kuster-Hauser Syndrome is a rare condition in which Müllerian system does not develop and ends up with rudimentary upper vagina and the uterus. As compared to normal physiology of the ovaries and puberty, the patients present with primary amenorrhoea a key clinical symptom. However, the exact aetiology of the disease is still unknown. A few reports considered environmental and epigenetic changes, hormonal imbalance, and cellular receptor abnormalities as possible risk factors associated with the disease. This case was reported at the Department of Family Medicine, The Indus Hospital, Karachi. A 24-year-old woman, married for eight months, presented with primary amenorrhoea and painful intercourse. Upon detailed clinical evaluation and relevant radiological and diagnostic investigation, an assessment, of Mayer-Rokitansky syndrome was made.

The care of patients with secondary hypothalamic amenorrhoea.

Secondary hypothalamic amenorrhoea is a common menstrual disorder affecting women of reproductive age. In some cases, periods become absent due to prolonged stress on the body, caused by undereating, overexercising and psychological stress. Secondary hypothalamic amenorrhoea is often underdiagnosed and undertreated, and patients may be prescribed oral contraception, which can mask the problem. This article will mainly focus on lifestyle factors associated with this condition and its association with disordered eating.