TRIPLE MOSAICISM OF THE SEX CHROMOSOMES IN A PHENOTYPICAL FEMALE

1964 ◽  
Vol 46 (3) ◽  
pp. 336-340 ◽  
Author(s):  
J. B. Bijlsma ◽  
J. James ◽  
W. Drukker
Keyword(s):  
Sex Chromosome ◽  
Chromosome Complement ◽  
Strong Support ◽  
Chromosome Analysis ◽  
Cultured Fibroblasts ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Vaginal Epithelial Cells ◽  
Sex Chromatin ◽  
Sexual Characteristics

ABSTRACT A patient is described showing a female phenotype, but with under-development of secondary sexual characteristics and primary amenorrhoea. Chromosome analysis in skin and blood cultures revealed the presence of nuclei with 44 autosomes and an XO, XX or XXX sex chromosome complement; metaphases with an XX and XXX constitution were, however, very scanty. The sex chromatin pattern gave strong support to the assumption that there was a triple mosaicism of the XO/XX/XXX type, as nuclei with one and nuclei with two Barr bodies were found – with a high proportion of negative nuclei – in buccal and vaginal epithelial cells and cultured fibroblasts. Some problems of a quantitative nature in this respect are discussed.

scholarly journals Evaluation and management of cases of primary amenorrhoea with MRKH syndrome

2013 ◽  
Vol 45 (1-2) ◽  
pp. 24-29
Author(s):  
Nasreen Akhter ◽  
Badrunnesa Begum
Keyword(s):  
Multidisciplinary Approach ◽  
Type I ◽  
Type Ii ◽  
Associated Anomalies ◽  
Complete Evaluation ◽  
Mrkh Syndrome ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Congenital Aplasia

The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, the second most common cause of primary amenorrhoea usually remains undetected until puberty and is characterized by congenital aplasia or hypoplasia of the uterus and most of the vagina in women showing normal secondary sexual characteristics. MRKH syndrome may be isolated (type I) but is more frequently associated with renal, vertebral, and, to a lesser extent, auditory and cardiac defects (MRKH type II or MURCS association). Complete evaluation of MRKH patient includes genital, urinary tract, cardiac, spinal and auditory assessment which need multidisciplinary approach. This review is an attempt to discuss the subtypes, associated anomalies, diagnostic consideration and treatment recommendations of patients with MRKH syndrome and aimed to make the specialists of other discipline, general physicians and the gynaecologists well aware about the entity. DOI: http://dx.doi.org/10.3329/bmjk.v45i1-2.13626 Bang Med J (Khulna) 2012; 45 : 24-29

Primary amenorrhoea as a manifestation of coeliac disease

2021 ◽  
Vol 14 (1) ◽  
pp. e239260
Author(s):  
Sara Todo Bom Costa ◽  
Inês Salas Sanmarful
Keyword(s):  
Coeliac Disease ◽  
Clinical Manifestations ◽  
Autoimmune Disorder ◽  
Clinical History ◽  
Urogenital System ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Wide Range ◽  
Sexual Characteristics ◽  
Detailed Clinical History

Coeliac disease is a systemic autoimmune disorder that has a wide range of clinical manifestations that include abdominal pain, diarrhoea, obstipation, weight loss, short stature and even primary amenorrhoea. It can be asymptomatic, which makes it an underdiagnosed disease. We present a case report of a 15-year-old girl who was referred to a paediatric consultation due to primary amenorrhoea. A detailed clinical history revealed poor weight gain. Physical examination showed that secondary sexual characteristics were present and there was a low body mass index. Ultrasonography images and laboratory tests revealed a normal urogenital system and an adequate gonadal function. Coeliac disease antibodies were positive and the diagnosis was confirmed through duodenal biopsy. The symptom resolved with a gluten-free diet. An approach to primary amenorrhoea should always include investigation of a systemic illness as it is a rare but treatable diagnosis.

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.

Prophylactic gonadectomy in 46 XY females; why, where and when?

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Nurul Iftida Basri ◽  
Chong Hong Soon ◽  
Anizah Ali ◽  
Nur Azurah Abdul Ghani ◽  
Ani Amelia Zainuddin
Keyword(s):  
Histopathological Examination ◽  
Early Adulthood ◽  
Breast Development ◽  
Case Presentation ◽  
Female Patients ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Operative Assessment ◽  
Male Karyotype

Abstract Objectives We compared cases of phenotypic female patients who presented with male karyotype and underwent prophylactic gonadectomy. Case presentation Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy. Conclusion Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.

Mayer-Rokitansky-Kuster-Hauser Syndrome - A Detailed Study of Nine Cases

2020 ◽  
Vol 7 (43) ◽  
pp. 2479-2484
Author(s):  
Amulya Reddy Bellal ◽  
Puneet Shirbur ◽  
Geetha R.G.
Keyword(s):  
External Genitalia ◽  
Type I ◽  
Mullerian Duct ◽  
Mrkh Syndrome ◽  
Müllerian Duct ◽  
Live Births ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Uterine Anomalies ◽  
Sexual Characteristics

BACKGROUND Mayer-Rokitansky-Küster-Hauser Syndrome or MRKH Syndrome is a rare condition and is the second most common cause of primary amenorrhea, comprising of vaginal atresia (upper two thirds), rudimentary uterus, normal fallopian tubes, ovaries, broad and round ligaments. The spectrum of uterine anomalies (hypoplasia or duplication) include a partial lumen to a bicornuate or septate uterus with obstruction (unilateral or bilateral). The incidence is 1 in 4500 - 5000 female live births, presenting with primary amenorrhoea. The secondary sexual characteristics, external genitalia, ovaries and karyotype are normal. There are two types - the first type is the isolated form and the second type also termed as MURCS association [Müllerian duct aplasia, renal dysplasia-agenesis, hydronephrosis, horseshoe kidney and cervicothoracic anomalies such as fused vertebrae, scoliosis etc.]. Initial assessment with ultrasound scan of abdomen and pelvis followed by MRI study of the abdomen and pelvis are the imaging modalities of choice. METHODS This is a case series of 9 female patients who had presented to the Department of Obstetrics & Gynaecology and the Department of Radiodiagnosis from July 2019 to June 2020, aged between 15 and 20 years with a chief complaint of anxiety due to primary amenorrhoea. Following a thorough clinical, gynaecological and biochemical evaluation (levels of FSH, LH and 17 beta oestradiol), radiological examination (ultrasound and MRI - abdomen and pelvis) was conducted. RESULTS In our study, out of a total of nine cases, six cases were MRKH Type I and three were MRKH Type 2. All the nine cases presented with primary amenorrhoea, normal secondary sexual characteristics (except one case with ectopic atrophic ovaries) and normal external genitalia. Available hormonal profile was unremarkable. Uterus was not palpable on PV and per speculum examination. Along with the above features, when features of only hypoplastic / infantile / rudimentary / absent uterus with hypoplastic / absent upper two thirds of vagina, normal pelvic ovaries or ectopic inguinal ovaries was present, a diagnosis of MRKH Type–I was given. With additional features of renal abnormalities or skeletal system abnormalities, a diagnosis of MRKH Type–II was given. CONCLUSIONS MRKH syndrome is a condition caused due to the failure of fusion of Müllerian duct derivatives. It affects 1 in 4500 - 5000 female live births. It is a class I Mullerian duct anomaly including vaginal atresia, uterine anomalies & malformations of the upper urinary tract. There are two types in this. USG and MRI of the abdomen and pelvis are helpful in imaging this condition. KEYWORDS MRKH Syndrome, Ultrasound, MRI, MURCS Association

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.

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

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.

AMENORRHOEA ASSOCIATED WITH INCREASED PRODUCTION OF GONADOTROPHINS AND A MORPHOLOGICALLY NORMAL OVARIAN FOLLICULAR APPARATUS

1971 ◽  
Vol 66 (2) ◽  
pp. 248-256 ◽  
Author(s):  
J. Starup ◽  
V. Sele ◽  
B. Henriksen
Keyword(s):  
Term Treatment ◽  
Autoimmune Reaction ◽  
Primordial Follicles ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Long Term Treatment ◽  
Sexual Characteristics ◽  
High Doses ◽  
Further Development

ABSTRACT Three cases of amenorrhoea associated with increased production of gonadotrophins and a morphologically normal ovarian follicular apparatus are presented. The first patient was 23 years old and had primary amenorrhoea. The other 2 patients were 28 and 26 years old, and had secondary amenorrhoea of 26 and 12 months' duration, respectively. It was characteristic of all 3 patients that the secondary sexual characteristics were developed before they had received any substitution therapy. The urinary excretion of total gonadotrophins was markedly increased, and by selective assays it was shown that the excretion of both FSH and LH was increased. The excretion of total oestrogens and pregnanediol was low. Furthermore, histological examination of ovarian biopsies in all 3 patients revealed ovaries with a normal stroma without any luteinization or hyperplasia of the hilus cells and a follicular apparatus with numerous primordial follicles. Very few of these, however, showed progression to the antrum stage and practically none showed any further development. In an attempt to stimulate the development of the ovarian follicles and to induce ovulation 1 patient was treated with clomiphene, and in addition all 3 patients were treated with very high doses of human gonadotrophins, but all attempts were unsuccessful. The explanation is probably that the ovaries of these patients are resistant to stimulation with gonadotrophins. Unfortunately, the possibility of an autoimmune reaction in the ovaries with formation of antigonadotrophins was not investigated in the present study. The aetiology of this syndrome is not yet known, but it might be of interest that 2 out of our 3 patients had received long-term treatment with combined oestrogen-gestagen preparations during the years before the diagnosis was made.

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.

Sign in / Sign up

Export Citation Format

Share Document