1.Eleven Cases of Turner Syndrome.
Jong Sub LEE ; Hack Joo CHA ; Ki Bok KIM
Journal of the Korean Pediatric Society 1983;26(1):91-96
No abstract available.
Turner Syndrome*
2.Treatment of Turner Syndrome.
Journal of Korean Society of Pediatric Endocrinology 2002;7(1):31-35
No abstract available.
Turner Syndrome*
3.Turner Syndrome.
Journal of Korean Society of Endocrinology 2003;18(6):552-560
No abstract available.
Turner Syndrome*
4.Turner Syndrome.
Journal of the Korean Pediatric Society 2003;46(Suppl 3):S416-S421
No abstract available.
Turner Syndrome*
5.Mayer Rokitansky Kuster Hauser Syndrome with Concomitant Turner Syndrome Presented with Primary Amenorrhea in an 18 Year Old Woman: A Case Report.
Raiza Wan-wan V. Chua ; Leedah Ranola-Nisperos ; Judith R. Zamudio
Philippine Journal of Reproductive Endocrinology and Infertility 2021;18(1):10-15
Primary amenorrhea is a symptom caused by different rare pathologic conditions. It is commonly seen during adolescence due to the absence of menses during this period. Presented here is a rare case of primary amenorrhea in an 18 year old girl with delayed pubertal growth and short stature which on series of investigations revealed hypergonadotropic hypogonadism, absence of the uterus and non-visualized bilateral ovaries on MRI. Karyotyping showed 45,X0. The coexistence of MRKH and gonadal dysgenesis was considered in this case and has been reported in only a few studies up to this date. Its association is uncommon, hence, a multidisciplinary approach is warranted for the management of her case. Further implications on menses and future fertility options are the main considerations, affecting the quality of life.
Turner Syndrome
6.A rare case of an Isochromosome Mosaic Turner Syndrome
Sarah Danielle T. Gatchalian ; Marian C. Dichoso
Philippine Journal of Reproductive Endocrinology and Infertility 2018;15(1):1-8
Turner syndrome is characterized by a complete or partial absence of one X chromosome. The
most common karyotype is 45,X0. A variant of Turner syndrome is Isochromosome Mosaic
Turner syndrome which presents with an abnormality of the chromosome structure. This is a
case of a 22 year old female who presented with short neck, widely spaced nipples, low
posterior hairline, absence of nose bridge, minimal axillary hair and underdeveloped breasts.
Ultrasound examination showed an infantile uterus with small ovaries. Her karyotype showed
an isochromosome of the long arm of the X chromosome and the remaining eight cells showed
a loss of one X chromosome, resulting in monosomy X (ISCN: 46,X,i(X)(q10)[42]/45,X[8]).
Hormonal evaluation showed a hypergonadotropic and hypogonadism state. Test results for
auditory, ophthalmologic, cardiac and renal functions were all within normal limits. The patient
was diagnosed with isochromosome mosaic Turner syndrome and started on hormonal
therapy.
Turner Syndrome
7.Chronic psychosis in Turner's syndrome.
Hyeon Jeong LEE ; Jeong Gee KIM
Journal of Korean Neuropsychiatric Association 1993;32(2):266-272
No abstract available.
Psychotic Disorders*
;
Turner Syndrome*
8.Spontaneous Growth in Korean Patients with Turner Syndrome.
Journal of Korean Society of Pediatric Endocrinology 1998;3(1):1-6
No abstract available.
Humans
;
Turner Syndrome*
9.A Clinical Studies in Patients with Turner's Syndrome.
Chang Hyun YANG ; Duk Hi KIM ; Kir Young KIM ; Young Ho YANG
Journal of the Korean Pediatric Society 1987;30(10):1143-1151
No abstract available.
Humans
;
Turner Syndrome*
10.Studying clinical and cytogenetic characteristics of the patients with Turner syndrome
Journal of Medical Research 2005;39(6):31-36
Turner syndrome is the most common gender chromosome abnormalities. The sooner treatment have the more effective it is. Objectives: 1. Analysing clinical characteristics of patients with Turner syndrome; 2. Analysing characteristics chromosomes and Barr bodies of patients with Turner syndrome. Methods: 38 females patients were analysed for chromosomes and Barr bodies at the Department of Medical Biology and Genetics-Hanoi Medical University. Results: Clinical characteristics: 29/38 patients at ages >=13; 37/38 patients have short stature; 29/29 patients (ages >=13) have short stature, sexual infantilism and lack of secondary sexual characteristics; 12/12 patients (ages >18) who are in primary amenorrhea. Cytogenetics: 20/38 patients have karyotype 45,X; Barr body (-); 3/38: 46,X,i(Xq); Barr bodies (+). 15/38 patients have Turner syndrome mosaicism: 45,x/46,XX; 45,x/47,XXX; 45,x/46,X,i(Xq); 45,x/46,XY. Conclusion: Almost pattients were diagnosed Turner syndrome after the age of puberty. Types of karyotype: 20/38 patients: 45,X; 3/38: 46,X,i(Xq); 15/38: Turner syndrome mosaicism with 2 cell lines: 1 line is 45,X and the other is either normal or abnormal.
Turner Syndrome, Cytogenetics