CHARACTERIZATION OF SPONTANEOUS AND INDUCED PUBERTY IN GIRLS WITH TURNER SYNDROME.
OBJECTIVE
To characterize puberty in girls with Turner syndrome (TS) and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous versus induced puberty in these patients.


METHODS
Medical records of girls followed in our Pediatric Endocrine clinic for TS from 2007 to 2015 were reviewed.


RESULTS
Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT). Of girls receiving HRT, a younger age at estrogen initiation correlated with a longer time to menarche (P = .02), and a mosaic karyotype was associated with a shorter time to menarche (P = .02), whereas no relationship was seen for body mass index, estrogen regimen, or maternal age at menarche. Nineteen girls (44%) receiving HRT had bleeding on estrogen alone at a wide dose range and were more likely to be on transdermal than oral preparations (P = .01). Girls with spontaneous puberty achieved menarche at a younger age (P<.01) and were more likely to have mosaic TS (P = .02).


CONCLUSIONS
Significant variability in the timing of menarche exists among girls with TS. However, age at pubertal induction and karyotype were significantly correlated with age at menarche in our patients. A wide range of estrogen doses is seen in girls who bleed prior to progesterone, suggesting extreme variability in estrogen sensitivity among patients with TS. Girls achieving spontaneous menarche are younger and more likely to have a mosaic karyotype than those with induced menarche. Large-scale prospective studies are needed to confirm these results.


BACKGROUND
BMI = body mass index; HRT = hormone replacement therapy; TS = Turner syndrome.
Lisal J
LJ
Folsom
James E
JE
Slaven
Zeina M
ZM
Nabhan
Erica A
EA
Eugster
D000279:Administration, Cutaneous; D000284:Administration, Oral; D000293:Adolescent; D000367:Age Factors; D015992:Body Mass Index; D002648:Child; D015914:Estrogen Replacement Therapy / Q000379:methods*; D004967:Estrogens / Q000627:therapeutic use*; D005260:Female; D020249:Hormone Replacement Therapy; D006801:Humans; D008572:Menarche / Q000502:physiology*; D009030:Mosaicism; D011374:Progesterone / Q000627:therapeutic use*; D011372:Progestins / Q000627:therapeutic use*; D011627:Puberty / Q000502:physiology*; D012189:Retrospective Studies; D014424:Turner Syndrome / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D055815:Young Adult
D004967:Estrogens; D011372:Progestins; D011374:Progesterone