On a case of a Turner Syndrome with a rare chromosomal finding (partial mosaic)

1966 ◽  
Vol 15 (4) ◽  
pp. 371-385
Author(s):  
C. Zara ◽  
A. Mannini ◽  
U. Magrini
Keyword(s):  
Turner Syndrome ◽  
Gonadal Dysgenesis ◽  
Chromosome Analysis ◽  
Primary Amenorrhea ◽  
Pertinent Literature

SUMMARYClinical and chromosomal studies of a case of gonadal dysgenesis. The patient presented primary amenorrhea, rudimentary uterus, ipoplastic tubes and gonadad streak. No Barr bodies or drumsticks were found, and the chromosome analysis revealed a mosaic of the type XO/X + centric fragment. The pertinent literature is reviewed, and attention is drawn to the possible existence of a secretion of the steroid type in the Leydig-like cells present in the gonadal streak.

scholarly journals CASE REPORTON TURNERS SYNDROME IN NORTH KARNATAKA

2017 ◽  
Vol 10 (4) ◽  
pp. 3
Author(s):  
G S Kadakol ◽  
Gavishiddappa Hadimani ◽  
Shankar V Patil ◽  
Rudragouda S Bulagouda
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
Clinical Features ◽  
Gonadal Dysgenesis ◽  
Chromosome Analysis ◽  
Pubic Hair ◽  
Neck Swelling ◽  
Cytogenetic Investigation ◽  
Hands And Feet

Turner syndrome (TS) is a common chromosomaldisorder. Turner syndrome (TS) also known as Ulrich–Turner syndrome, gonadal dysgenesis and 45, X, is a condition in which a female is partly or completely missing an X chromosome.The main clinical features of TS are Swollen hands and feet,Wide and webbed neck, a combination of the following symptoms may be seen in older females:Absent or incomplete development at puberty, including sparse pubic hair and small breasts broad, flat chest shaped like a shield, drooping eyelids, Turner Syndrome frequently seen  in young infants.Our case of a 10-year-old girl has TS-specific clinical hallmarks,with the symptoms of short stature, wide barred shaped chest drooping eyelids. She visited our hospital because of her neck swelling, pain in on /off condition since one month. In our study we reported both clinically & cytogenetic investigation which shows a patient is suffering from Turner Syndrome. This type of Syndrome is very rare in this region.Keywords:Turner Syndrome,   Short Stature,Chromosome Analysis

Inhibin B in adolescents and young adults with Turner syndrome

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Maria Francesca Messina ◽  
Tommaso Aversa ◽  
Giuseppina Salzano ◽  
Daria Costanzo ◽  
Concetta Sferlazzas ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Ovarian Reserve ◽  
Ovarian Function ◽  
Ovarian Tissue ◽  
Pubertal Development ◽  
Inhibin B ◽  
Control Group ◽  
Primary Amenorrhea ◽  
Menstrual Cycles ◽  
Reliable Marker

AbstractPrimary gonadal failure may occur in most individuals with Turner syndrome (TS). Since ovaries in TS girls undergo premature apoptosis and cryopreservation of ovarian tissue is now feasible, it would be useful to identify a reliable marker of ovarian reserve in these patients. We planned to evaluate ovarian function in a group of TS patients by measuring both traditional markers and inhibin B and to compare these results with those of a control group.We enrolled 23 patients with TS and 17 age-matched healthy girls. The median age of our TS patients was 17.6 years. Three out of the 23 patients (13%) showed spontaneous pubertal development and regular menstrual cycles; the remaining 20 (86.9%) presented with primary amenorrhea.The median level of inhibin B in the TS patients with primary amenorrhea was 42 pg/mL and did not differ significantly among the different subgroups in relation to karyotype. The median inhibin B level in the control group was significantly higher than in the TS girls with primary amenorrhea (83 vs. 42 pg/mL, p<0.00001). In the three patients with TS and spontaneous menstrual cycles, the inhibin B levels were significantly higher when compared to the values of the TS girls with primary amenorrhea.TS patients with primary amenorrhea have significantly lower levels of inhibin B than TS girls with spontaneous puberty and healthy controls. Inhibin B does not correlate with follicle-stimulating hormone/luteinizing hormone. If our results are confirmed in further studies, inhibin B could become a first-line screening test for assessing ovarian reserve and a longitudinal marker of the possible decline of ovarian function in TS.

Morphological features of female gonadal dysgenesis and karyotype in patients with Shereshevsky-Turner syndrome

2016 ◽  
Vol 3 (2) ◽  
pp. 87-91
Author(s):  
Evgeniya A. Kogan ◽  
O. E Ushakova ◽  
Yu. N Kur’yanova ◽  
N. M Fayzullina ◽  
O. K Stupko
Keyword(s):  
Turner Syndrome ◽  
Gonadal Dysgenesis ◽  
Control Group ◽  
Sry Gene ◽  
Ki 67 ◽  
Inhibin A ◽  
Tissue Samples ◽  
Blood Lymphocytes ◽  
Ovarian Stroma ◽  
Morphological Variants

The aim of the work - the study of the morphological and immunophenotypic variants of the structure gonads in gonadal dysgenesis (GD) and karyotypic characteristics of patients with the Shereshevsky-Turner syndrome (SHTS). There were investigated the tissue samples of the removed gonads and ovaries from 16 SHTS patients with GD and 11 patients from the control group without SSHT whose ovaries had been removed due to parovarian cysts. The morphological study was executed with immunohistochemical typing of gonadal tissue with the detection of expression: Ki-67, Vimentin, Desmin, Inhibin A, ER ( «DAKO»), AR ( «SpringBioscience»). The karyotype was investigated by means of cytogenetic method, whereas the presence of the SRY-gene - with aid of PCR-reaction in blood lymphocytes. As a result, there were established morphological variants of GD in SHTS: streak-gonads (8 patients), GD with ovarian stroma (6 patients), GD with the formation of the gonadoblastoma (2 patients). At that in the blood lymphocytes of SHTS patients there were discovered following karyotypes: 45Х, 45X/46XY, 45X/46XX, 45, Х, t (4, 19) (р14, q13.3), 45, Х[5]/46, Xi(X)(q10)[20], 45, Х[31]/46, Xi(X)(q10)[19], 46Xpsui(Y)(q10)[6]/45, Х[3]/46 XY[20]. There were revealed statistically significant correlations between karyotypes of blood lymphocytes and immunophenotypes of cell of the genital cord stroma, fibroblasts and GD germinal cells. Markers directly relating to the survival of follicles: inhibin-a, AR, ER were of the greatest importance for the development of someone or other morphological variant. GD in patients with ovarian stroma were differed in the greatest expression of ER (p < 0.05). SRY-gene was detected in the 1 patient with the lack of Y-chromosome. In two patients gonadoblastoma was found in GD without the presence of the SRY-gene in blood lymphocytes. The data obtained testify to a variety of morphologic and immunophenotypic variants of GD in SHTS, which are not always correlated with the karyotype of blood lymphocytes ofpatients that may partly reflect a possible discrepancy between the karyotypeofblood lymphocytes and DG tissue due to gene mosaicism.

scholarly journals Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

2016 ◽  
Vol 73 (10) ◽  
pp. 961-966
Author(s):  
Tamara Dragovic ◽  
Zorana Djuran ◽  
Svetlana Jelic ◽  
Dejan Marinkovic ◽  
Sasa Kikovic ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Genetic Disorder ◽  
Clinical Signs ◽  
Growth Failure ◽  
Delayed Puberty ◽  
Clinical Feature ◽  
Facial Dysmorphism ◽  
Primary Amenorrhea ◽  
Growth Plates ◽  
Gh Secretion

Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

scholarly journals Amenorrea primaria

2009 ◽  
Vol 60 (1) ◽  
pp. 57-67
Author(s):  
Janer Sepúlveda-Agudelo ◽  
Miguel Ángel Alarcón-Nivia ◽  
Hermes Jaimes-Carvajal
Keyword(s):  
Turner Syndrome ◽  
Hypogonadotropic Hypogonadism ◽  
Kallmann Syndrome ◽  
Primary Amenorrhea ◽  
Menstrual Disorders ◽  
Palabras Clave

Objetivo: se hace una revisión detallada de la amenorreaprimaria, teniendo como base la clasificación propuesta por Mashchak CA y col. de acuerdo con la presencia o ausencia del desarrollo mamario y la presencia o no de útero, por ser la de mayor utilidad para el enfoque de manejo de las pacientes con amenorrea primaria.Metodología: se realizó una búsqueda de la literatura publicada en inglés a través de MEDLINE y OVID, usando como palabras clave: amenorrhea, primary amenorrhea, menstrual disorders, Turner syndrome, Kallmann syndrome, Prader-Willi síndrome, hypogonadotropic-hypogonadism; y se clasificó la información como soporte de la presente revisión, realizando resúmenes para su análisis.Resultados: la amenorrea primaria puede ser causada por una variedad de alteraciones que incluyen anormalidades müllerianas, gonadales, hipofisiarias, hipotalámicas, adrenales y tiroideas, o disfunciones hormonales en estos diferentes niveles. Estas anormalidades pueden ser congénitas por defectos cromosómicos o genéticos, o adquiridas, por lo tanto, es importante realizar un diagnóstico certero de esta patología para llevar a cabo un enfoque terapéutico adecuado, con el fin de disminuir todas las consecuencias que la enfermedad puede causar. Conclusiones: el tratamiento de las pacientes con amenorrea primaria debe ser individualizado, de acuerdo con las posibilidades terapéuticas de cada paciente, pero existen unas preguntas generales que tienen todas las pacientes o sus familiares y son relacionadas con la menstruación y los ciclos menstruales espontáneos posteriores, fertilidad, sexualidad y posibilidad de coitos con penetración vaginal satisfactoria.

scholarly journals A Turner Syndrome Case With Primary Amenorrhea Detected To Have Distal Radius Fracture And Severe Osteoporosis

2021 ◽  
Author(s):  
Nazlı Ölçilü ◽  
Figen Yılmaz ◽  
Jülide Öncü Alptekin ◽  
Banu Kıvran
Keyword(s):  
Bone Mineral Density ◽  
Distal Radius Fracture ◽  
Turner Syndrome ◽  
Distal Radius ◽  
Bone Mineral ◽  
Primary Amenorrhea ◽  
Mineral Density ◽  
Severe Osteoporosis ◽  
T Score ◽  
Replacement Treatment

Turner Syndrome (TS) is partial or total monosomy X with a prevalence of 2500/1 and characterized by premature ovarian failure, short stature, and multiple skeletal anomalies and is also called congenital ovarian dysplasia. Delayed puberty and estrogen deficiency are some of the determining factors for Osteoporosis formation in TS. Bone mineral density is among the best parameters to evaluate the bone mineral condition. Most female TS patients need estrogen replacement treatment to stimulate and continue feminization and to prevent osteoporosis. Forty-two years-old patient with TS was admitted to our clinic for rehabilitation following a right distal radius fracture occurring when she was trying to get up from the floor trying to get support from her right hand. The patient with primary amenorrhea wasn't admitted to the hospital before except her admittance for amenorrhea when she was 20 years old and was diagnosed with Turner syndrome. In her bone mineral density (DXA) measurement, L2-L4 vertebra BMD T-score was -4.0 (0.719 g/cm), Z score was -3.8, total femur T-score was 1.7 (0.788 g/cm) and femur neck T score was -1.7 (0.799). No pathological vertebral fractures were detected. The patient was given oral risedronate sodium 35 mg and calcium 1200 mg vitD 3 880 IU/day treatment for osteoporosis and followed-up. Our aim in this case presentation was to present the fact that severe osteoporosis and fracture may occur unless early hormone replacement treatment is started in a primary amenorrheic patient with Turner Syndrome.

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 A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report

2021 ◽  
Vol 10 (4) ◽  
pp. 177-179
Author(s):  
Hamid Reza Samimagham ◽  
Mitra Kazemi Jahromi
Keyword(s):  
Turner Syndrome ◽  
Rare Variant ◽  
Rare Variants ◽  
Sex Chromosome ◽  
Clinical Manifestations ◽  
Chromosome Anomaly ◽  
Primary Amenorrhea ◽  
Hypergonadotropic Hypogonadism ◽  
Case Presentation ◽  
Genetic Problem

Background: Turner syndrome occurs in nearly one in every 2000-5000 female births. This syndrome is a genetic problem in the female phenotype and the most common sex chromosome anomaly. It is diagnosed based on clinical manifestations and cytogenetic examinations. The classic syndrome (i.e., monosomy X) makes up 50% of the cases while other forms contain X chromosome variants, which do not typically manifest as the classic X phenotype. Case Presentation: This study, presents a rare variant of Turner syndrome reported in a 20-year-old woman presenting with primary amenorrhea, hypothyroidism, and short stature who had hypergonadotropic hypogonadism with hypoplastic ovaries while without the clinical manifestations of the classic Turner syndrome. The karyotype was determined as X isochromosome-X syndrome [46 XXi (Xq)]. Conclusion: This rare syndrome occurs in approximately 7% of the cases of Turner syndrome. Rare variants of the syndrome should also be considered in female patients without the classic manifestations of Turner syndrome.

scholarly journals PURE GONADAL DYSGENESIS: CLINICAL CASE AND REVIEW OF THE LITERATURE

2021 ◽  
Vol 9 (4) ◽  
pp. 641-644
Author(s):  
Rana Watfeh ◽  
◽  
Adam Benani ◽  
Maria Hijji ◽  
M. Youssfi ◽  
...  
Keyword(s):  
Hormone Replacement Therapy ◽  
Clinical Picture ◽  
Gonadal Dysgenesis ◽  
Clinical Case ◽  
Germ Line ◽  
Hormone Replacement ◽  
Egg Donation ◽  
Primary Amenorrhea ◽  
Review Of The Literature ◽  
Endocrine Secretion

XX or XY pure gonadal dysgenesis (PGD) is defined by premature destruction of the fetal gonads which reduce to an undifferentiated stroma with absence of germ line and endocrine secretion. The phenotype is unambiguously female with a clinical picture associating primary amenorrhea and impuberty. We present in this article a clinical case illustrating this pathology in a young patient who presents a primary amenorrhea. The diagnosis of pure XX gonadal dysgenesis was retained based on the clinical and para-clinical examinations. The patient was treated with hormone replacement therapy. The chances of fertility are almost absent in our context, and the only way out is egg donation.

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