Turner Syndrome Systematic Review: Spontaneous Thelarche and Menarche Stratified by Karyotype

  title={Turner Syndrome Systematic Review: Spontaneous Thelarche and Menarche Stratified by Karyotype},
  author={Elizabeth Dabrowski and Rachel Jensen and Emilie K. Johnson and Reema L. Habiby and Wendy J. Brickman and Courtney Finlayson},
  journal={Hormone Research in Paediatrics},
  pages={143 - 149}
Background: Girls with Turner syndrome (TS) have a high incidence of primary ovarian insufficiency. Recent data show rates of spontaneous thelarche (ST) of 38% and spontaneous menarche (SM) of 15–16%, with higher rates in those with mosaicism. Summary: We systematically reviewed the literature for evidence regarding rates of ST and SM in TS and evaluated rates based on the type of chromosomal mosaicism. We searched MEDLINE via PubMed, Embase, and the Cochrane Database of Controlled Trials… 
6 Citations
Association between pectus excavatum and congenital genetic disorders: A systematic review and practical guide for the treating physician: pectus excavatum and congenital genetic disorders.
A scoring list for the clinician that systematically evaluates crucial clinical signs is created, thereby facilitating decision making for referral to a clinical geneticist.
Why are some patients with 45,X Turner syndrome fertile? A young girl with classical 45,X Turner syndrome and a cryptic mosaicism in the ovary.
F follicles were found in a girl with monosomic TS, in the presence of a cryptic mosaicism, and karyotyping of extraovarian cells was not predictive of the karyotype of ovarian cells in the same patient.
Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells.
The aim was to stand out the utility of urothelial cells for unravelling complex and hidden cell lines in DSD patients and highlight the importance of investigating sex chromosome mosaicism in other tissues.
Subsequent menstrual disorder after spontaneous menarche in Turner syndrome
The menstrual abnormalities after spontaneous menarche in TS patients are investigated and it is found that women with TS have lower than average levels of menstruation during the first year of life.
Fertility Preservation: How to Preserve Ovarian Function in Children, Adolescents and Adults
Chemotherapy, pelvic radiotherapy and ovarian surgery have known gonadotoxic effects that can lead to endocrine dysfunction, cessation of ovarian endocrine activity and early depletion of the ovarian
Primary and Secondary Amenorrhea


Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.
This study suggests that pregnancy outcomes in SPs are more favourable than those after oocyte donation in TS patients, however, the risk of fetal chromosomal abnormalities remains high.
Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan
  • Toshiaki Tanaka, Y. Igarashi, +17 authors S. Yokoya
  • Medicine
    Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
  • 2015
No significant differences in frequencies of spontaneous breast development and spontaneous menarche were observed between the two dose groups, indicating that GH treatment does not increase the frequency of spontaneous puberty.
Spontaneous Pubertal Development in Turner’s Syndrome
The increased percentage of spontaneous menarche is Turner's syndrome reported in the recent literature might be due to increased ascertainment by diligent screening for Turner’s syndrome in girls with short stature and mild or no Turner's Syndrome stigmata, even though they may be menstruating.
Inhibin B in adolescents and young adults with Turner syndrome
TS patients with primary amenorrhea have significantly lower levels of inhibin B than TS girls with spontaneous puberty and healthy controls, and this level does not correlate with follicle-stimulating hormone/luteinizing hormone.
Pubertal development profile in patients with Turner syndrome
Spontaneous puberty occurred in approximately one-third of the patients and Pubarche was the first feature in most patients and about 20% showed pubarche only after estrogen therapy.
Gonadoblastoma in Patients with Ullrich-Turner Syndrome
The importance of complete processing of the gonadectomy specimen, including step sections, molecular studies, and FISH, in addition to the classic cytogenetic searching for Y chromosome sequences, in patients who present with a nonmosaic 45,X karyotype is emphasized.
Growth of Argentinian girls with Turner syndrome.
Standards presented here are useful for evaluating Turner syndrome patients from Argentina, and may also be used by those with similar growth pattern in their normal population, as they are similar to the same Turner-normal differences described in other communities.
Feasibility of fertility preservation in young females with Turner syndrome.
Fertility preservation may not be feasible for most patients with Turner syndrome, however, after careful consideration of increased pregnancy-associated risks, fertility preservation may be offered to young females with mosaic TS.
Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.
  • C. Bondy
  • Medicine
    The Journal of clinical endocrinology and metabolism
  • 2007
It is suggested that parents receiving a prenatal diagnosis of TS be advised of the broad phenotypic spectrum and the good quality of life observed in TS in recent years and that patients with defined cardiovascular defects be cautioned in regard to pregnancy and certain types of exercise.
Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome
The combined determination of X chromosome mosaicism by molecular and molecular-cytogenetic techniques may become useful for the prediction of SM in Turner syndrome, a pilot study on a relatively small sample size and confirmation in larger TS cohorts may be required.