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

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.

Diagnosis and management of of primary amenorrhea and female delayed puberty

Acta Endocrinologica ◽

10.1530/eje-20-1487 ◽

2021 ◽

Author(s):

Satu Seppä ◽

Tanja Kuiri-Hänninen ◽

Elina Holopainen ◽

Raimo Voutilainen

Keyword(s):

Pubertal Development ◽

Hypogonadotropic Hypogonadism ◽

Reproductive Capacity ◽

Breast Development ◽

Delayed Puberty ◽

Primary Amenorrhea ◽

Sexual Characteristics ◽

Old Females ◽

Puberty is the period of transition from childhood to adulthood characterized by the attainment of adult height and body composition, accrual of bone strength and the acquisition of secondary sexual characteristics, psychosocial maturation and reproductive capacity. In girls, menarche is a late marker of puberty. Primary amenorrhea is defined as the absence of menarche in ≥15-year-old females with developed secondary sexual characteristics and normal growth or that in ≥13-year-old females without signs of pubertal development. Furthermore, evaluation for primary amenorrhea should be considered in the absence of menarche three years after thelarche (start of breast development) or five years after thelarce, if that occurred before the age of 10 years. A variety of disorders in the hypothalamus-pituitary-ovarian axis can lead to primary amenorrhea with delayed, arrested or normal pubertal development. Etiologies can be categorized as hypothalamic or pituitary disorders causing hypogonadotropic hypogonadism, gonadal disorders causing hypergonadotropic hypogonadism, disorders of other endocrine glands, and congenital utero-vaginal anomalies. This article gives a comprehensive review of the etiologies, diagnostics and management of primary amenorrhea from the perspective of pediatric endocrinologists and gynecologists. The goals of treatment vary depending on both the etiology and patient; with timely etiological diagnostics fertility may be attained even in those situations where no curable treatment exists.

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.

Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2014-0071 ◽

2015 ◽

Vol 28 (1-2) ◽

Cited By ~ 2

Author(s):

Gül Yesiltepe Mutlu ◽

Heves Kırmızıbekmez ◽

Hatip Aydın ◽

Handan Çetiner ◽

Serdar Moralıoğlu ◽

...

Keyword(s):

Gonadal Dysgenesis ◽

External Genitalia ◽

Delayed Puberty ◽

Sex Characteristics ◽

Primary Amenorrhea ◽

Laboratory Findings ◽

Secondary Sex Characteristics ◽

Disorder Of Sexual Development ◽

Swyer Syndrome

Abstract46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY karyotype. Most of the studied cases presented with leak of secondary sex characteristics and primary amenorrhea during adolescence. Laboratory findings reveal hypergonadotropic hypogonadism. Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the

Rare case of complete gonadal dysgenesis 46 XY, Swyer syndrome

International Journal of Research in Medical Sciences ◽

10.18203/2320-6012.ijrms20170181 ◽

2017 ◽

Vol 5 (2) ◽

pp. 714

Author(s):

Aravind Chander ◽

Reshma Shri ◽

Arun Muthuvel ◽

Chandralekha Veluswamy

Keyword(s):

Gonadal Dysgenesis ◽

External Genitalia ◽

Sexual Life ◽

Primary Amenorrhea ◽

Female Type ◽

The Past ◽

Donor Oocyte ◽

Swyer Syndrome ◽

Made In ◽

Complete Gonadal Dysgenesis

Swyer syndrome also known as 46XY complete gonadal dysgenesis is a rare cause of primary amenorrhea. These patients are phenotypically females with female type of internal and external genitalia with absence of testicular tissues. They have streak gonads which have increased potential to turn into malignancy. Bilateral gonadectomy should be done as soon as diagnosis is made. In present case, 20 years unmarried female came with complaints of menstrual bleeding only on taking medication. She never attained menarche, following which she was started on treatment outside, on withdrawal bleeding for the past 3 years. She was now evaluated and diagnosed as Swyer syndrome and bilateral gonadectomy was done laproscopically. Swyer syndrome patients can get married, have normal sexual life and can get pregnant through invitro fertilisation with donor oocyte if desired.

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.

Amenorrhea

InnovAiT Education and inspiration for general practice ◽

10.1177/17557380211031608 ◽

2021 ◽

pp. 175573802110316

Author(s):

Pooja Munjal ◽

Manju Nair

Keyword(s):

Common Type ◽

Reproductive Age ◽

Primary Amenorrhea ◽

Women Of Reproductive Age ◽

Secondary Amenorrhea ◽

Secondary Amenorrhoea ◽

Primary Amenorrhoea ◽

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.

Clinical and Radiological Findings in Mayer-Rokitansky-Küster-Hauser Syndrome type 2

Sultan Qaboos University Medical Journal [SQUMJ] ◽

10.18295/squmj.4.2021.036 ◽

2021 ◽

Author(s):

Samih Abed Odhaib ◽

Miaad Jassim Mohammed ◽

Ahmed Jaafar Hindi Al-Ali ◽

Abbas Ali Mansour

Keyword(s):

Iliac Fossa ◽

Unknown Etiology ◽

Primary Amenorrhea ◽

Radiological Findings ◽

Sexual Characteristics ◽

Müllerian Agenesis ◽

The Right ◽

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) or (Müllerian Agenesis) represents uterovaginal aplasia or hypoplasia of unknown etiology in young women with usual 46, XX karyotype, and normal secondary sexual characteristics. We report a 15-year-old adolescent woman with primary amenorrhea, and normal pubertal secondary sexual characteristics, normal hormonal workup, and clinical examination. Abdominopelvic magnetic resonance imaging (MRI) revealed cervical and uterine agenesis, with the absence of the proximal thirds of the vagina. Both kidneys are fused in the right iliac fossa with oval lobulated appearance, picture of crossed fused ectopia. The ovaries are normal and located bilaterally. The diagnosis of MRKHS type 2 was confirmed based on clinical, biochemical, and radiological findings. The correct clinical and radiological diagnosis of MRKHS by MRI is crucial for the next steps in long-term management. Keywords: Müllerian Agenesis, Uterovaginal malformations.

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.

Uticaj porođajne mase i aktuelne težine deteta na nastanak prevremenog puberteta

Praxis medica ◽

10.5937/pramed2002007m ◽

2020 ◽

Vol 49 (1-2) ◽

pp. 7-12

Author(s):

Snežana Marković-Jovanović ◽

Maja Ješić ◽

Vlada Bojić ◽

Aleksandar Jovanović ◽

Zorica Živković ◽

...

Keyword(s):

Body Weight ◽

Birth Weight ◽

Critical Mass ◽

Nutrition Status ◽

Delayed Puberty ◽

Reproductive Ability ◽

Sexual Characteristics ◽

High Calorie ◽

Introduction: Puberty is a juvenile developmental period accompanied by intensive growth and acquisition of reproductive ability. The onset of puberty is influenced by many factors: genetics, neuropeptides and glycoproteins, gonadotropins, sex hormones and the child's nutrition status. Premature puberty is defined as the appearance of secondary sexual characteristics in girls before the age of 8, and in boys before the age of 9. The aim of this paper is to analyze the published results on the importance and influence of factors such as birth weight, current weight and BMI on the development of premature puberty. Results: Eating disorders caused by eating high-calorie foods lead a child to obesity, which is accompanied by premature puberty. On the other hand, conditions characterized by reduced nutrition may be accompanied by delayed puberty. According to the results of this study, children with more pronounced manifestations of precocious puberty had a significantly lower birth weight Discussion: Birth weight of less than 2500g, as well as newborns' SGA (small for gestational age), are directly related to earlier pubertal maturation. Five decades ago, Frich et al. found that reaching a body weight of 48 kg in girls is a "critical mass" for development of menarche. Conclusion: The occurrence of secondary sexual characteristics is more frequent in children with increased body weight and correlates inversely with the child's birthweight.