Amenorrhea

Sexual Characteristics ◽

Amenorrhoea is defined as absence of menstruation in women of reproductive age. Primary amenorrhoea is a failure to start menstruation by the age of 13 years without secondary sexual characteristics or by the age of 15 years with normal secondary sexual characteristics. Secondary amenorrhoea is the absence of menstruation for 6 months in a woman with normal prior menstruation. Secondary amenorrhea is more common type, with a prevalence of between 3 and 4%. This compares with a prevalence of 0.3% for those with primary amenorrhea.

Ovarian inguinal hernia – a possibility in MURCS syndrome

10.21203/rs.2.24278/v1 ◽

2020 ◽

Author(s):

Rahul Saini ◽

Lovenish Bains ◽

Tarangpreet Kaur ◽

Pawan Lal ◽

Veer Pal ◽

...

Keyword(s):

Inguinal Hernia ◽

Reproductive Age ◽

Mullerian Duct ◽

Age Group ◽

Women Of Reproductive Age ◽

Müllerian Duct ◽

Sexual Characteristics ◽

Reproductive Age Group ◽

Abstract Background Inguinal hernia containing ovary can be found in paediatric population and is a rare finding in women of reproductive age group. Most of the cases are associated with congenital abnormalities of the female genital tract. Case Presentation A 20 year old female presented with right reducible inguinal hernia, primary amenorrhea and normal secondary sexual characteristics. Clinical examination revealed scoliosis with convexity towards left side, prominence of left rib cage with sprengel deformity and right sided heart sounds. Ultrasound of the inguinal swelling revealed right ovary within the hernial sac, Chest X-ray revealed right lung collapse and dextrocardia. Further Magnetic resonance imaging (MRI) of pelvis revealed inguinal hernia with right ovary as its content, normal left ovary and absent uterus. Computed tomography (CT) revealed complete collapse of right lung with compensatory left lung hyperinflation and absent right kidney. Karyotyping of the patient was normal, 46XX. A diagnosis of MURCS syndrome with right ovarian hernia was made. The hernia was surgically managed with repositioning of ovary into the pelvis. Discussion Ovary in inguinal hernia is rare in women of reproductive age group. MRKH syndrome, a mullerian duct anomaly, is the congenital aplasia of uterus and upper two-thirds of vagina in a female with normal ovaries, fallopian tube, secondary sexual characteristics and 46XX karyotype. MURCS is a subtype of MRKH type 2 having mullerian duct agenesis with renal, cardiac, muscular & vertebral defects. General physical examination and primary investigations if yields abnormal findings; the patient must undergo an array of investigations to rule out MRKH/MURCS, or other congenital abnormality. Early diagnosis is essential to prevent its incarceration or torsion. The primary treatment of ovary in inguinal hernia is repositioning the ovary back to pelvis to preserve fertility and repair of inguinal hernia. A multidisciplinary team is required to deal with various abnormalities present in a patient with MURCS.

Ovarian inguinal hernia – a possibility in MURCS syndrome

Journal of Ovarian Research ◽

10.1186/s13048-021-00869-y ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Rahul Saini ◽

Lovenish Bains ◽

Tarangpreet Kaur ◽

Pawan Lal ◽

Veer Pal ◽

...

Keyword(s):

Inguinal Hernia ◽

Fallopian Tube ◽

Reproductive Age ◽

Mullerian Duct ◽

Age Group ◽

Women Of Reproductive Age ◽

Sexual Characteristics ◽

Reproductive Age Group ◽

Abstract Background Inguinal hernia containing ovary and fallopian tube can be found in paediatric population and is a rare finding in women of reproductive age group. Most of the cases are associated with congenital abnormalities of the female genital tract. Case presentation A 20 year old female presented with right reducible inguinal hernia, primary amenorrhea and normal secondary sexual characteristics. Clinical examination revealed scoliosis with convexity towards left side, prominence of left rib cage with Sprengel deformity and right sided heart sounds. Ultrasound of the inguinal swelling revealed right ovary within the hernial sac, Chest X-ray revealed right lung collapse and dextrocardia. Further Magnetic resonance imaging (MRI) of pelvis revealed inguinal hernia with right ovary as its content, normal left ovary and absent uterus. Computed tomography (CT) revealed complete collapse of right lung with compensatory left lung hyperinflation and absent right kidney. Karyotyping of the patient was normal, 46XX. A diagnosis of MURCS syndrome with right ovarian hernia was made. The hernia was surgically managed with repositioning of ovary and fallopian tube into the pelvis. Discussion Ovary in inguinal hernia is rare in women of reproductive age group. MRKH syndrome, a mullerian duct anomaly, is the congenital aplasia of uterus and upper two-thirds of vagina in a female with normal ovaries, fallopian tube, secondary sexual characteristics and 46XX karyotype. MURCS is a subtype of MRKH type 2 having mullerian duct agenesis with renal, cardiac, muscular & vertebral defects. General physical examination and primary investigations if yields abnormal findings; the patient must undergo an array of investigations to rule out MRKH/MURCS, or other congenital abnormality. Early diagnosis is essential to prevent its incarceration or torsion. The primary treatment of ovary in inguinal hernia is repositioning the ovary and fallopian tube back to pelvis to preserve fertility and repair of inguinal hernia. A multidisciplinary team is required to deal with various abnormalities present in a patient with MURCS.

Prospective study of primary amenorrhoea and its management in a rural tertiary centre

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20193694 ◽

2019 ◽

Vol 8 (9) ◽

pp. 3442

Author(s):

Pavanaganga A. ◽

Sai Prathyusha Ivalla ◽

Nagarathnamma R. ◽

Sailakshmi M. P. A.

Keyword(s):

Prospective Study ◽

Social Life ◽

Primary Amenorrhea ◽

Imperforate Hymen ◽

Her Family ◽

Primary Amenorrhoea ◽

Tertiary Centre ◽

Sexual Characteristics ◽

Background: Amenorrhoea (absence of menstruation) is a symptom of varied causes. It results from dysfunction of hypothalamic-pituitary ovarian axis, uterus and vagina. It is a major concern for pubertal girls and their family members. It has a major impact on the physical, mental, psychological and social life of the girl and her family. The objective of the present study was to evaluate the aetiology and management of primary amenorrhoea in young adolescent girls.Methods: It was a prospective study conducted for a period of 2 years from August 2016 to July 2018 at Rajarajeswari medical college and hospital. Patients presenting with history of amenorrhoea that is, absence of menses by the age of 13 years with no visible development of secondary sexual characteristics or by 15 years of age with the presence of normal secondary sexual characteristics were included in our study. Cases of secondary amenorrhoea were excluded. Detailed history, examination, investigations and management was documented and analysed.Results: A total of 25 patients of primary amenorrhea were studied during the study period. In our study outflow tract anomalies were the commonest cause of amenorrhoea accounting for 84%, of which imperforate hymen (32%) and Mayer Rokitansky Küster Hauser syndrome (MRKH) 36% were the two most common Mullerian anomaly causing primary amenorrhoea. Gonadal dysgenesis accounted for 12% of the cases. Amenorrhoea was the commonest complaint patients presented with accounting to 76%, followed by cyclical pain abdomen accounting for 16% of cases.Conclusions: Primary amenorrhoea is multifactorial and is of major concern among adolescent girls. Early diagnosis and intervention has an impact on the physical and psychological wellbeing of the girl.

Primary Amenorrhoea with Pituitary Dwarfism: A rare case report

Research in Pharmacy and Health Sciences ◽

10.32463/rphs.2016.v02i02.28 ◽

2016 ◽

Vol 2 (2) ◽

pp. 145-147

Author(s):

Siva S ◽

Divya Gopineni ◽

Shafi P ◽

Chandra Sekhar

Keyword(s):

Pituitary Gland ◽

General Medicine ◽

Pituitary Hormones ◽

Thyroid Stimulating Hormone ◽

Primary Amenorrhea ◽

Pituitary Dwarfism ◽

Primary Amenorrhoea ◽

Sexual Characteristics ◽

Loss Of Appetite ◽

Females with pituitary dwarfism and a multiple deficiency of pituitary hormones show ovarian dysfunction due to hypogonadotropism. Primary amenorrhea can be diagnosed if a patient has normal secondary sexual characteristics but no menarche by 16 years of age. A 16 year-old female patient admitted in general medicine department with chief complaints of shortness of breath on exertion since 15 days, swelling of both legs since 10 days, loss of weight since 5 months, loss of appetite since 3 months, history of pain during swallowing. Pelvis scan examination reveals that uterus measures 3.2×0.5×0.5cm; uterus is hypo plastic, ovaries not visualized. Patient parents reveled that from patient birth to 11years of age her growth and other developments were normal, after that her growth is stopped and no changes were observed in development since 5 years. Patient has hypothyroidism so pituitary gland make an important role to maintain hormone levels, pituitary gland produces thyroid stimulating hormone (TSH) which stimulates thyroid gland to produce thyroid hormones. Primary Amenorrhea, short stature and poorly developed secondary sexual characters which could have been contributed and should be subjected for karyotyping. This type of Pituitary Dwarfism is very difficult to manage.

MRKH syndrome: a review of literature

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20184999 ◽

2018 ◽

Vol 7 (12) ◽

pp. 5219

Author(s):

Nidhi Jain ◽

Jyotsna Harlalka Kamra

Keyword(s):

Ovarian Function ◽

Surgical Techniques ◽

Primary Amenorrhea ◽

Mrkh Syndrome ◽

Secondary Sexual Characters ◽

Vaginal Aplasia ◽

Rare Congenital Disorder ◽

Sexual Characteristics ◽

Primary amenorrhea is defined as failure to achieve menarche till age of 14 years in absence of normal secondary sexual characters or till 16 years irrespective of secondary sexual characters. The most common cause of primary amenorrhea is gonadal pathology followed by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome). MRKH syndrome is a rare congenital disorder characterised by uterine and vaginal aplasia. It occurs due to failure of development of Müllerian duct. Its incidence is 1 per 4500 female births. Mostly girls present with primary amenorrhea. It is characterised by presence of normal secondary sexual characteristics, normal 46 XX genotype, normal ovarian function in most of the cases and absent or underdeveloped uterus and upper part (2/3) of vagina. It is of two types: type A is isolated type while type B is associated with other renal/skeletal/cardiac anomalies. Treatment includes psychological counselling and vaginoplasty. Vaginoplasty can be done by various non-surgical and surgical techniques. The authors hereby review the literature of MRKH syndrome regarding its embryology, etiopathogenesis, approach to work up and management.

Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature

Medicine and Pharmacy Reports ◽

10.15386/mpr-2064 ◽

2021 ◽

Author(s):

Alise Jakovleva ◽

Zanna Kovalova

Keyword(s):

Median Time ◽

Gonadal Dysgenesis ◽

Additional Patient ◽

Delayed Puberty ◽

Primary Amenorrhea ◽

Sexual Characteristics ◽

Swyer Syndrome ◽

Complete Gonadal Dysgenesis ◽

Background and aim. Complete gonadal dysgenesis or Swyer syndrome is a rare genetic disorder characterized by 46,XY karyotype and female phenotype with undeveloped streak gonads and high malignancy risk. The condition usually manifests in teenage and young adults with delayed puberty and primary amenorrhea. The purpose of this study was to investigate the incidence and potential malignant outcomes of complete gonadal dysgenesis in Latvia. Methods. 37 patients were included in a retrospective study from 1996 to 2016. In fifteen cases, additional patient information was available. Information from medical records was collected on age at the time of diagnosis: anamnesis data, laboratory results, histology of gonads, and treatment. Results. Complete gonadal dysgenesis with karyotype 46,XY was proven in 36 (97.3%) cases and one (2.7%) case with karyotype 47,XY,+21. The average age of patients at the time of diagnosis was 15.4 ± 8.0 years. The study included 15 cases: eight patients (53.3%) were investigated for primary amenorrhea, and incomplete development of secondary sexual characteristics, 5 patients (33.3%) with abdominal pain and lower abdominal mass, 2 patients (13.3%) were diagnosed at birth. Gonadectomy was performed in 12 cases (80%). The median time between diagnosis and gonadectomy was 0.4 ± 4.3 years. The histopathology results from the gonadal biopsy showed malignancy in 7 cases (58.3%). The most commonly diagnosed tumors were dysgerminoma and gonadoblastoma. Conclusion. Early diagnosis of Swyer syndrome is necessary in view of the risk of malignancy that can develop at a young age. In several cases, the diagnosis of the syndrome was made only after the malignant process development. The study showed the median time between diagnosis and gonadectomy was suboptimal. Therefore, women with amenorrhea and lack of secondary sexual characteristics require careful investigation.

Primary amenorrhoea secondary to two different syndromes: a case study

BMJ Case Reports ◽

10.1136/bcr-2018-228148 ◽

2019 ◽

Vol 12 (3) ◽

pp. e228148

Author(s):

Zareen Kiran ◽

Tayyaba Jamil

Keyword(s):

Turner Syndrome ◽

Bone Growth ◽

Single Patient ◽

Primary Amenorrhoea ◽

Sexual Characteristics ◽

Müllerian Agenesis ◽

Sexual Characteristic ◽

Turner syndrome is a relatively common chromosomal abnormality presenting as primary amenorrhoea in gynaecological and endocrine clinics, caused by complete or partial X monosomy in some or all cells. Mayer-Rokitansky-Kuster-Hauser syndrome is another common cause of primary amenorrhoea characterised by Mullerian agenesis of varying degrees. We report a case of an 18-year-old girl, who presented with primary amenorrhoea, absence of secondary sexual characteristics and short stature. Hormonal profile confirms hypergonadotrophic hypogonadism. Karyotyping was consistent with Turner syndrome (45,XO). In addition, radiological imaging of the pelvis showed the absence of both ovaries as well as the uterus, cervix and vagina. This patient had therefore presented with two different syndromes as the cause of her primary amenorrhoea, which is extremely rare in a single patient. Moreover, oestrogen replacement therapy will trigger the development of secondary sexual characteristic and promote bone growth, but induction of menstruation and fertility is impossible.

Two cases of 17α-hydroxylase deficiency - one combined with complete gonadal agenesis

Acta Endocrinologica ◽

10.1530/acta.0.0980267 ◽

1981 ◽

Vol 98 (2) ◽

pp. 267-273 ◽

Cited By ~ 3

Author(s):

Erling Tvedegaard ◽

Viggo Frederiksen ◽

Klaus Ølgaard ◽

Meta Damkjær Nielsen ◽

Jørgen Starup

Keyword(s):

Plasma Renin ◽

Sequential Therapy ◽

Plasma Corticosterone ◽

Hydroxylase Deficiency ◽

Primary Amenorrhoea ◽

Sexual Characteristics ◽

Male Genotype ◽

Gonadal Agenesis ◽

Abstract. Two cases of 17α-hydroxylase deficiency are described. Both patients had primary amenorrhoea, total lack of female secondary sexual characteristics, slight hypertension and hypokalaemia. One patient was of male genotype (male pseudohermaphrodite), and in addition this patient had complete gonadal agenesis. The other patient was of female genotype. In both patients the level of plasma corticosterone was markedly increased, whereas the concentration of plasma cortisol was very low and plasma aldosterone low within the normal range. Furthermore, the plasma ACTH level was significantly increased and the plasma renin activity around the lower normal limit. The urinary excretion of corticosterone metabolites was markedly increased, whereas the excretion of both cortisol metabolites and tetrahydroaldosterone was decreased. The patients had no symptoms of glucocorticoid deficiency. Treatment with dexamethasone 0.5 mg daily completely suppressed the abnormal corticosterone production and normalized both blood pressure and serum potassium. In addition, the patient of male genotype has received sequential therapy with oestrogen and gestagen for 3 years, but so far no development of the secondary sexual characteristics has occurred.

Adolescent Girls with Pure Gonadal Dysgenesis: A Rare Disease

Journal of Bangladesh College of Physicians and Surgeons ◽

10.3329/jbcps.v36i4.38187 ◽

2018 ◽

Vol 36 (4) ◽

pp. 170-174

Author(s):

Joysree Saha ◽

Kohinoor Begum ◽

Kamil Ara Khanom ◽

Indrajit Prasad ◽

Sumaya Akter

Keyword(s):

Gonadal Dysgenesis ◽

Ovarian Function ◽

Sensorineural Deafness ◽

Pubic Hair ◽

Primary Amenorrhoea ◽

Sexual Characteristics ◽

Patient Will ◽

History Of ◽

Gonadal dysgenesis is a rare cause of primary amenorrhoea ,which is a relatively common problem among teenage girls.Primary amenorrhoea occurs in patient with gonadal dysgenesis because of absence or limited ovarian function due to inappropriate development.Streak gonads are unable to produce estrogens and/or androgens,resulting in minimal to no development of secondary sexual characteristics.Adrenal androgens may induce production of pubic hair,but patient will have minimal breast development.These patients may have a family history of infertility, short stature,sensorineural deafness,ataxia,mild mental retardation or gonadoblastoma. Here two cases of primary amenorrhoea due to pure gonadal dysgenesis are presented. 1 st one was a 18yr old girl whose mother consulted with a gynaecologist at the age of 16yr because of her worries about absence of menarche of her daughter and secondone was a 14yr old girl whose mother consulted with a gynaecologist at the age of 16yr because of absence of secondary sexual characteristics as well as menarche of her daughter. In both cases, blood test showed very high levels of follicle stimulating hormone (FSH) & luteinizing hormone (LH), low levels of oestradiol& very low level of AMH. USG findings of both cases showed a bit hypoplastic uterus and volume of ovaries were smaller than normal. A diagnostic laparoscopy with biopsy of both gonads of one case was performed.Another case did not give consent for laparoscopy.Hormonal replacement therapy was applied on them for establishment of normal menstruation and menstruation was established in both cases. An early diagnosis is extremely important to prevent long term consequences of Gonadal dysgenesis.J Bangladesh Coll Phys Surg 2018; 36(4): 170-174

Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/clinem/dgaa106 ◽

2020 ◽

Vol 105 (5) ◽

pp. 1478-1488 ◽

Cited By ~ 1

Author(s):

Soumia Brakta ◽

Lynn P Chorich ◽

Hyung-Goo Kim ◽

Laurel A Coons ◽

John A Katzenellenbogen ◽

...

Keyword(s):

Medical Center ◽

Academic Medical Center ◽

Lower Abdominal Pain ◽

Breast Development ◽

White Female ◽

Vaginal Smear ◽

Primary Amenorrhea ◽

Sexual Characteristics ◽

Abstract Context We previously reported the first female with a causative ESR1 gene variant, who exhibited absent puberty and high estrogens. At age 15 years, she presented with lower abdominal pain, absent breast development, primary amenorrhea, and multicystic ovaries. The natural history of complete estrogen insensitivity (CEI) in women is unknown. Objective The purpose of this report is to present the neuroendocrine phenotype of CEI, identify potential ligands, and determine the effect of targeted treatment. Design We have characterized gonadotropin pulsatility and followed this patient’s endocrine profile and bone density over 8 years. Seventy-five different compounds were tested for transactivation of the variant receptor. A personalized medicine approach was tailored to our patient. Setting Academic medical center. Patient or Other Participants A 24-year-old adopted white female with CEI. Intervention(s) The patient was treated with diethylstilbestrol (DES) for approximately 2.5 years. Main Outcome Measure(s) Induction of secondary sexual characteristics. Results Luteinizing hormone (LH) pulse studies demonstrated normal pulsatile LH secretion, elevated mean LH, and mildly elevated mean follicle-stimulating hormone (FSH) in the presence of markedly increased estrogens. DES transactivated the variant ESR1 in vitro. However, DES treatment did not induce secondary sexual characteristics in our patient. Conclusions Treatment with DES was not successful in our patient. She remains hypoestrogenic despite the presence of ovarian cysts with a hypoestrogenic vaginal smear, absent breast development, and low bone mineral mass. Findings suggest additional receptor mechanistic actions are required to elicit clinical hormone responses.