Phyllodes tumor of the breast is a relatively rare fibroepithelial tumor. Turner syndrome is a condition that affects approximately 50 per 100,000 females and includes total or partial absence of one X chromosome in all or part of the cells, reduced final height, absence of female sex hormone, and infertility. In this case report, we describe the first case of a benign phyllodes tumor mimicking a malignancy at breast US in a 26-year-old woman with Turner syndrome who had been undergoing hormone replacement therapy.
Adult ; Breast ; Female ; Hormone Replacement Therapy ; Humans ; Infertility ; Phyllodes Tumor ; Turner Syndrome ; X Chromosome

Newly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose estrogen replacement therapy can achieve a more physiological endocrine milieu. However, many complicated and controversial issues with such treatment remain. Therefore, lifetime observation, long-term studies of health problems, and optimal therapeutic plans are needed for women with Turner syndrome. In this review, we discuss several diagnostic trials using recently developed genetic techniques and studies of physiological hormone replacement treatment over the last 5 years.
Diagnosis ; Estrogen Replacement Therapy ; Female ; Fetus ; Genetic Techniques ; Hormone Replacement Therapy ; Humans ; Mosaicism ; Prenatal Diagnosis ; Turner Syndrome* ; X Chromosome

PURPOSE:Decreased bone mineral density(BMD) has been reported in girls with Turner syndrome. Estrogen therapy is recommanded to improve sexual infantilism and decreased BMD. Short stature is also characteristic finding in patients with Turner syndrome. Treatment modality for short stature has included estrogen, anabolic steroids and growth hormone(GH). Recently GH therapy in GH deficient children could increase BMD in addition to improve short stature. We observed the treatment effects on bone mineral density in patients with Turner syndrome. METHODS: Bone Mineral Density in second to fourth lumbar spine area were measured by dual energy X-ray absorptiometry in 56 girls with Turner syndrome, before and after growth hormone and/or estrogen. All Turner girl was confirmed by clinical and chromosomal examination. RESULTS: 1) There was no significant difference in BMD according to karyotype. 2) The mean BMD of untreated Turner syndrome was 0.752+/-0.122g/cm2. 3) The mean BMD before and after GH treatment were 0.620+/-0.028g/cm2, 0.793+/-0.093g/cm2 respectively. The mean BMD before and after estrogen treatment were 0.761+/-0.125g/cm2, 0.918+/-0.141g/cm2 respectively. In combined group, the BMD were 0.752+/-0.087g/cm2 and 0.939+/-0.134g/cm2. Growth hormone was also effective to improve BMD as well as estrogen. But the changes of BMD were more significant in estrogen and combined group(p<0.05). 4) A significant positive correlation was found between age and BMD(p<0.05). CONCLUSIONS:Estrogen therapy can accelerate epiphysial maturation and compromise final height. Growth hormone therapy in Turner girls was effective for improvement bone mineral density as well as growth improvement. But growth hormone and estrogen combined therapy or Estrogen therapy is more effective to improve bone mineral density in Turner syndrome. Estrogen replacement can be delayed for a while on growth hormone treatment and the appropriated time of estrogen therapy should be elucidated.
Absorptiometry, Photon ; Bone Density* ; Child ; Estrogen Replacement Therapy ; Estrogens ; Female ; Growth Hormone ; Humans ; Karyotype ; Sexual Infantilism ; Spine ; Steroids ; Turner Syndrome*

Premature ovarian failure (POF) is defined as the complete cessation of menses less than 40 years of age. The criteria are more than four months of amenorrhea, with serum follicle stimulating hormone value of >40 mIU/mL and the frequency of POF is about 1% of all women. Although the etiologies of POF remain unknown, suggested factors are genetic, autoimmune, chemotherapy and environmental toxicants. The cytogenetic abnormalities predominantly concern the X chromosome, including Turner syndrome, Fragile X syndrome and deletion or translocation of X chromosome. We report a case of premature ovarian failure with the following karyotype: 46,X,der(X), t(X;11)(q28;p13).
Amenorrhea ; Chromosome Aberrations ; Drug Therapy ; Female ; Follicle Stimulating Hormone ; Fragile X Syndrome ; Humans ; Karyotype ; Primary Ovarian Insufficiency* ; Turner Syndrome ; X Chromosome*

Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall stature. This report describes the first Korean case of Turner syndrome with tall stature caused by SHOX overdosage. The patient presented with primary amenorrhea and hypergonadotropic hypogonadism at the age of 17 years. Estrogen replacement therapy was initiated at that time. She displayed tall stature from childhood, with normal growth velocity, and reached a final height of 190 cm (standard deviation score, 4.3) at the age of 30 years. Her karyotype was 46,X, psu idic(X)(q21.2), representing partial monosomy of Xq and partial trisomy of Xp. Analysis by multiplex ligation-dependent probe amplification detected a duplication at Xp22.3-Xp22.2, encompassing the PPP2R3 gene near the 5'-end of the SHOX gene through the FANCD gene at Xp22.2.
Amenorrhea ; Chromosome Deletion ; Chromosome Disorders ; Estrogen Replacement Therapy ; Female ; Gonadal Dysgenesis ; Haploinsufficiency ; Humans ; Hypogonadism ; Karyotype ; Multiplex Polymerase Chain Reaction ; Trisomy ; Turner Syndrome* ; X Chromosome

Amenorrhea is one of the most taxing cases in the field of gynecologic endocrinology. Turner's and Mayer-Rokitansky-Kuster-Hauser Syndromes are the two most common separate causes of primary amenorrhea worldwide. Presented here is a rare case of an 18-year old female with Turner's Syndrome and concomitant Mayer-Rokitansky-Kuster-Hauser Syndrome. The worldwide incidence of both syndromes occurring simultaneously in an individual is 1 in 15,000,000 livebirths. The index patient presents with primary amenorrhea and chromosomal analysis revealed 45,X. Transrectal ultrasound noted absence of both the uterus and the ovaries. Early detection of this rare case is important for the initiation of hormone replacement therapy. Adoption is the only option to have a child since Assisted Reproductive Technique (ART) by means of in-vitro fertilization is not applicable for patients with both of these syndromes. Parents and children must be educated regarding the limitations of current knowledge about the management of both Turner's and Mayer-Rokitansky-Kuster-Hauser Syndromes and must be given realistic expectations with respect to sexual functionand social acceptance.

Human ; Female ; Adolescent ; Ovary ; Amenorrhea ; Mullerian Aplasia ; Turner Syndrome ; Uterus ; 46, Xx Disorders Of Sex Development ; Hormone Replacement Therapy ; Fertilization In Vitro ; Reproductive Techniques, Assisted ; Parents

46,XY pure gonadal dysgenesis, also known as Swyer syndrome, is a disorder of sexual differentiation. Its characteristics include a female phenotype without the somatic stigmata of Turner's syndrome, primary amenorrhea, sexual infatilism and bilateral streak gonads. Neoplasia occurs in 20-30% of individuals who have gonadal dysgenesis and Y chromosomal material. Gonadoblastoma and dysgerminoma are the most frequent tumor in phenotypic females with Y chromosome. One case was referred for palpable low abdominal mass. No other somatic abnormalities could be detected. Laparotomy revealed dysgerminoma of left ovary and mesenteric metastasis. In the course of postoperative adjuvant chemotherapy, her elder sister was diagnosed as Swyer syndrome. And karyotype of this patient was 46,XY, too. So right gonadectomy was performed thereafter. The other case visited for primary amenorrhea and delayed development of breast. Physical examination revealed no development of breast, no pubic and axillary hair. External genital organ was normal shaped. Peripheral blood karyotyping was 46,XY. Bilateral gonadectomy was performed and hormone replacement therapy was started. We report two cases of Swyer syndrome and review of literature.
Amenorrhea ; Breast ; Chemotherapy, Adjuvant ; Christianity ; Dysgerminoma ; Female ; Genitalia ; Gonadal Dysgenesis ; Gonadal Dysgenesis, 46,XY* ; Gonadoblastoma ; Gonads ; Hair ; Hormone Replacement Therapy ; Humans ; Karyotype ; Karyotyping ; Laparotomy ; Neoplasm Metastasis ; Ovary ; Phenotype ; Physical Examination ; Sex Differentiation ; Siblings* ; Turner Syndrome ; Y Chromosome

PURPOSE: Ovarian dysgerminoma is a highly radiosensitive malignant tumor occurring in young age group. The conventional treatment was total abdominal hysterectomy and bilateral salpingo-oophorectomy followed by radiotherapy. We retrospectively analyzed the treatment results of patients who had received radiotherapy in the era before chemotherapy was widely used. MATERIAL AND METHOD: Twenty two patients with ovarian dysgerminoma were treated at the Department of Therapeutic Radiology, Seoul National University Hospital between August, 1980 and May, 1991. Four patients were excluded from this study, because three patients received incomplete treatment and one received combined chemotherapy. Sixteen patients received postoperative radiotherapy and two patients had radical radiotherapy as tumor was unresectable. Median follow-up period was 99 months (range, 51-178). Median age was 22 years (range, 11-42). Among the postoperatively treated patients, three patients were in stage IA, eight in stage IC, two in stage II, and three in stage III. One patient had Turner's syndrome. Radiotherapy was performed with high energy photon (telecobalt unit or linear accelerator, either 6MV or 10MV). The radiation dose to the whole abdomen was 1950-2100cGy (median, 2000) and 1050-2520cGy was added to the whole pelvis, the total dose to the whole pelvis was 3000-4500cGy (median, 3500). Prophylactic paraaortic area irradiation was done in six patients (dose range, 900-1500cGy). One patient who had positive paraaortic node, received radiation dose of 1620cGy, followed by additional 900cGy to the gross mass with shrinking field. Total dose to the paraaortic node was 4470cGy. Six patients, including one who had paraaortic node metastasis, received prophylactic irradiation to mediastinum and supraclavicular area (2520cGy). Of the two patients with unresectable tumors who received radical radiotherapy, one was in stage III and the other wasin stage IV with left supraclavicular lymph node metastasis. The stage III patient received radiation to the whole abdomen (2000cGy), followed by boost to whole pelvis (2070cGy) and paraaortic area (2450cGy). Stage IV patient received radiation to the whole abdomen (2000cGy), followed by radiation to the whole pelvis and paraaortic area (2400cGy), mediastinum (2520cGy), and left supraclavicular area (3550cGy). RESULT: The 5 year local control rate was 100% in patients who received postoperative adjuvant radiotherapy after total abdominal hysterectomy and bilateral salpingo-oophorectomy. Only one patient in stage III who did not receive prophylactic irradiation to mediastinum developed mediastinal metastasis, but was salvaged by chemotherapy. So, the 5 year overall survival rate was also 100%. Two patients who received radiation only, are alive without disease at 112 and 155 months. CONCLUSION: Postoperative adjuvant radiotherapy as well as radical radiotherapy in unresectable ovarian dysgerminoma was very effective. But chemotherapy is also an effective treatment modality. We now recommend chemotherapy for patients who need to save their ovarian function and reserve radiotherapy for chemo-resistant tumor or recurrence after chemotherapy.
Abdomen ; Drug Therapy ; Dysgerminoma* ; Follow-Up Studies ; Humans ; Hysterectomy ; Lymph Nodes ; Mediastinum ; Neoplasm Metastasis ; Particle Accelerators ; Pelvis ; Radiation Oncology ; Radiotherapy ; Radiotherapy, Adjuvant ; Recurrence ; Retrospective Studies ; Seoul ; Survival Rate ; Turner Syndrome

OBJECTIVE: Premature ovarian failure (POF) is a highly heterogenous condition, and its etiology remains unknown in approximately two-thirds of cases. POF can be caused by Turner syndrome, genetic disease, iatrogenic agents such as chemotherapy and radiotherapy, infection and autoimmune disease. X chromosome inactivation is the random process in females during early embryogenesis to achieve dosage compensation with males. But skewed X chromosome inactivation occurs in the female carriers, secondary to cell-autonomous selection against cells in which the abnormal X chromosome is active. Highly skewed X chromosome inactivation is likely to occur in POF which caused by subcytogenetic X chromosome deletion or translocation and X-linked gene mutation. The present study was performed to investigate whether highly skewed inactivation of X chromosome is observed in POF. METHODS: Eighty-six women with premature ovarian failure were studied and eighty-three normal women were enrolled as a control group. X chromosome inactivation pattern were determined by studying methylation pattern of androgen receptor gene. RESULTS: Seventy-six of the 86 POF patients were informative for X chromosome inactivation assay, 8 (10.5%) of them showed highly skewed X chromosome inactivation. In the age matched control group, 3 (4.1%) out of the 74 subjects showed highly skewed X chromosome inactivation. However, this finding is not statistically significant (p=0.2274). Among highly skewed X inactivation, one case of premature ovarian failure revealed 46,XX,del(X)(p21) by high resolution band karyotyping. Therefore highly skewed X inactivation can provide clues to evaluate the causes in POF. CONCLUSION: This study suggests that screening of skewed X chromosome inactivation for the POF will be useful to detect subcytogenetic X chromosome deletion or translocation and X-linked gene mutation associated with POF.
Autoimmune Diseases ; Compensation and Redress ; Drug Therapy ; Embryonic Development ; Female ; Genes, X-Linked ; Humans ; Iatrogenic Disease ; Karyotyping ; Male ; Mass Screening ; Methylation ; Pregnancy ; Primary Ovarian Insufficiency* ; Radiotherapy ; Receptors, Androgen ; Turner Syndrome ; X Chromosome Inactivation* ; X Chromosome*

Objective: To analyze the incidence and risk factors of otologic disorders in patients with Turner syndrome (TS), so as to provide management strategies for ear health. Methods: This study is a prospective study based on questionnaires and a cross-sectional study. The TS patients who visited our hospital from 2010 January to 2021 March were included (A total of 71 patients with TS were included in this study. the age of TS diagnosed was 3- to 11-year-old, age of visiting ENT department was 4- to 27-year-old) and the incidence of otologic diseases in different age groups was investigated by questionnaires. The cross-sectional study included ear morphology and auditory function assessment, and further analysis of the risk factors that related to ear disease. Prism was used for data analysis. Results: The investigation found that the incidence of acute otitis media in patients aged 3-6 and 7-12 years was higher than that of patients over 12 years old, which was 33.8%(24/71), 42.9%(30/70)and 23.5%(8/34), respectively; 21.1% (15/71) of patients were recurrent acute otitis media in patients aged 3-6 years, and about 46.6% (7/15)of them persisted beyond 6-year. The prevalence of otitis media with effusion in the three groups was 32.4%(23/71), 34.3%(24/70)and 38.2%(13/34), respectively; the recurrence rate of tympanocentesis was 100%(7/7), 42.9%(3/7)and 50.0%(1/2), which was significantly higher than that of grommet insertion. For age groups of 3-6 and 7-12 years, the prevalence of acute otitis media and secretory otitis media was lower in the X chromosome structure abnormal patients; while for patients older than 12 years, otitis media with effusion was the highest prevalence in Y-chromosome-containing karyotypes. In addition, the prevalence of acute otitis media and otitis media with effusion in patients with other system diseases were increased significantly. A cross-sectional study found that 7.0% (5/71)of the lower auricular, 4.2% (3/71)of the external auditory canal narrow, and 38.0% (27/71)of the tympanic membrane abnormality. 35.2%(25/71) had abnormal hearing, including 17 cases of conductive deafness, 6 cases of sensorineural hearing loss, and 2 cases of mixed deafness. The rest of the patients had normal hearing, but 6 of them had abnormalities in otoacoustic emission. Eustachian tube function assessment found that the eustachian tube dysfunction accounted for 38%(27/71). Hearing loss and abnormal Eustachian tube function were not significantly related to karyotype(Chi-square 2.83 and 2.84,P value 0.418 and 0.417), but significantly related to other system diseases(Chi-square 13.43 and 7.53,P value<0.001). Conclusions: The incidence of TS-related otitis media and auditory dysfunction is significantly higher than that of the general population. It not only occurs in preschool girls, but also persists or develops after school age. Accompanied by other system diseases are risk factors for ear diseases. Clinicians should raise their awareness of TS-related ear diseases and incorporate ear health monitoring into routine diagnosis and treatment.
Adolescent ; Adult ; Child ; Child, Preschool ; Cross-Sectional Studies ; Deafness/etiology* ; Female ; Humans ; Middle Ear Ventilation/adverse effects* ; Otitis Media/complications* ; Otitis Media with Effusion/complications* ; Prospective Studies ; Turner Syndrome/therapy* ; Young Adult