scholarly journals Adolescent Girls with Pure Gonadal Dysgenesis: A Rare Disease

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 ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Patient Will ◽  
History Of ◽  
Secondary Sexual

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

REPLACEMENT ORAL ETHINYLOESTRADIOL THERAPY FOR GONADAL DYSGENESIS: GROWTH AND ADRENAL ANDROGEN STUDIES

1979 ◽  
Vol 91 (3) ◽  
pp. 519-528 ◽  
Author(s):  
Anne W. Lucky ◽  
Samuel P. Marynick ◽  
Robert W. Rebar ◽  
Gordon B. Cutler ◽  
Michael Glen ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Bone Age ◽  
Pubic Hair ◽  
Height Velocity ◽  
First Year ◽  
Adrenal Androgen ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Second Year ◽  
Pre Treatment

ABSTRACT We have studied growth and adrenal dehydroepiandrosterone (DHA) responses to iv synthetic adrenocorticotrophic hormone (ACTH, Cortrosyn) in 6 girls with gonadal dysgenesis before and during treatment with lowdose ethinyloestradiol (EOe2). In all patients there was a statisfactory induction of secondary sexual characteristics including increase in breasts and pubic hair and onset of withdrawal bleeding within 6 months of therapy. Height velocity increased from 2.8 ± 0.9 cm/year pre-treatment to 5.3 ± 1.5 cm/year (P < 0.02) in the first year. There was deceleration to 1.9 ± 1.1 cm/year in the second year. There was no disproportionate advancement in bone age and thus, presumably, no loss of ultimate height. We could demonstrate no change in basal or ACTH-stimulated levels of DHA, a specific adrenal androgen, to account for the increased pubic hair and growth in these patients.

scholarly journals MRKH syndrome: a review of literature

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 Characteristics ◽  
Secondary Sexual Characters ◽  
Vaginal Aplasia ◽  
Rare Congenital Disorder ◽  
Sexual Characteristics ◽  
Secondary Sexual

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.

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

2021 ◽  
Author(s):  
Alise Jakovleva ◽  
Zanna Kovalova
Keyword(s):  
Median Time ◽  
Gonadal Dysgenesis ◽  
Additional Patient ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Swyer Syndrome ◽  
Complete Gonadal Dysgenesis ◽  
Secondary Sexual

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.  

scholarly journals Primary amenorrhoea secondary to two different syndromes: a case study

2019 ◽  
Vol 12 (3) ◽  
pp. e228148
Author(s):  
Zareen Kiran ◽  
Tayyaba Jamil
Keyword(s):  
Turner Syndrome ◽  
Bone Growth ◽  
Single Patient ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Müllerian Agenesis ◽  
Sexual Characteristic ◽  
Secondary Sexual

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

1981 ◽  
Vol 98 (2) ◽  
pp. 267-273 ◽  
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 ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Male Genotype ◽  
Gonadal Agenesis ◽  
Secondary Sexual

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.

Amenorrhea

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 ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Secondary Sexual

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.

scholarly journals Obesity accelerates secondary sexual maturity in girls

2012 ◽  
Vol 52 (4) ◽  
pp. 213
Author(s):  
Meirina Sari ◽  
Endy Paryanto Prawirohartono ◽  
Madarina Julia
Keyword(s):  
Health Effects ◽  
Sexual Maturation ◽  
Sexual Maturity ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Stage Ii ◽  
Secondary Sexual Characteristics ◽  
Hazard Ratios ◽  
Sexual Characteristics ◽  
Secondary Sexual

Background Worldwide incidence of obesity in children isincreasing. Obesity may have many health effects includingadvancement of sexual maturity.Objective T he aim of this study was to assess the timing ofsecondary sexual maturation in obese vs. non􀁄obese girls.Methods Subjects were 105 obese and 105 non􀁄obese girls, aged7 to 8 years who had not entered puberty. Breast and pubic hairgrowth, secondary sexual characteristics, were assessed at baselineand every 4 months for two years. Onset of puberty was defined asTanner stage for secondary sexual maturation of 2: breast Tannerstage II (B2) and/or 2: pubic hair Tanner stage II (P2). Survivalanalyses were used to estimate time to puberty in both groups.Cox regressions were used to analyze possible factors affectingsecondary sexual maturation.Results Mean onset of breast budding (B2) was 7.8 (95% CI 7.7to 7.8) years in obese girls vs. 8.6 (95% CI 8.5 to 8.6) years innon􀁄obese girls (P<O.OOl). Mean onset of pub arc he (P2) was 8.7(95% CI 8.6 to 8.8) years in obese girls vs. 9.0 (95% CI 8.9 to 9.0)years in non􀁄obese girls (P<O.OOl). Hazard ratios of obese girlsto experience an earlier secondary sexual maturation at maturitylevel B2, B3 and P2 were 1.34 (95% CI 1.19 to 1.52), 6.91 (95%CI 3.90 to 12.24) and 3.78 (95% CI 2.42 to 5.89), respectively.Conclusions Obesity was associated with earlier onset ofpuberty in girls. Obese girls entered puberty approximately 3 to9 months earlier than their non􀁄obese peers. [Paediatr Indones.2012;52:213-8].

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

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 ◽  
Secondary Sexual Characteristics ◽  
Tertiary Centre ◽  
Sexual Characteristics ◽  
Secondary Sexual

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

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 ◽  
Secondary Sexual

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.

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