Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age

Patricia Y. Fechner, Marsha L. Davenport, Rebecca L. Qualy, Judith L. Ross, Daniel F. Gunther, Erica Eugster, Carol Huseman, Anthony J. Zagar, Charmian A. Quigley

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Context: Little information exists regarding FSH values in very young girls with Turner syndrome (TS). Objectives: The objective of the study was to evaluate the pattern, natural progression, and karyotype-related differences in FSH secretion in young, prepubertal girls with TS. Study Design: FSH was measured at study entry and annually for 2 yr. Setting: The Toddler Turner study was conducted at 11 U.S. pediatric endocrine centers. Study Participants: Eighty-eight girls with karyotype-proven TS aged 9 months to 4 yr participated in the study. Main Outcome Measures: By-karyotype differences in FSH concentration and age-related changes in FSH were measured. Results: Mean (± SD) FSH was markedly elevated in the 45,X (n = 56: 68.3 ± 36.0 IU/liter) and Other groups [n = 15 (excluding three subjects with Y-containing karyotypes): 52.7 ± 50.8 IU/liter] but was minimally elevated in girls with 45,X/46,XX mosaicism (n = 14: 10.1 ± 13.5 IU/liter, P < 0.005 both comparisons). Over the 2-yr period, FSH declined in the 45,X group (-13.4 IU/liter·yr, P < 0.0001). Nonetheless, only three of 159 FSH values fell within normal range for age at any time during the 2-yr study. FSH decline was similar in the Other group (-14.3 IU/liter·yr, P = 0.0032). In contrast, no significant decrease in FSH with age was observed in the 45,X/46,XX group. Conclusions: In contrast to the original report of FSH concentrations in individuals with TS, this study demonstrates distinct differences in patterns of FSH secretion between young girls with monosomy TS, who have persistent elevation of FSH to age 6 yr, and those with 45,X/46,XX mosaicism, whose FSH values suggest retained ovarian function in the majority. These findings have implications for patient management and family counseling.

Original languageEnglish
Pages (from-to)4896-4902
Number of pages7
JournalJournal of Clinical Endocrinology and Metabolism
Volume91
Issue number12
DOIs
StatePublished - Dec 2006

Fingerprint

Turner Syndrome
Pediatrics
Mosaicism
Follicle Stimulating Hormone
Karyotype
Monosomy
Counseling
Reference Values
Outcome Assessment (Health Care)

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age. / Fechner, Patricia Y.; Davenport, Marsha L.; Qualy, Rebecca L.; Ross, Judith L.; Gunther, Daniel F.; Eugster, Erica; Huseman, Carol; Zagar, Anthony J.; Quigley, Charmian A.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 91, No. 12, 12.2006, p. 4896-4902.

Research output: Contribution to journalArticle

Fechner, Patricia Y. ; Davenport, Marsha L. ; Qualy, Rebecca L. ; Ross, Judith L. ; Gunther, Daniel F. ; Eugster, Erica ; Huseman, Carol ; Zagar, Anthony J. ; Quigley, Charmian A. / Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age. In: Journal of Clinical Endocrinology and Metabolism. 2006 ; Vol. 91, No. 12. pp. 4896-4902.
@article{3642aa45c44b42ef82de46b1dfe28069,
title = "Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age",
abstract = "Context: Little information exists regarding FSH values in very young girls with Turner syndrome (TS). Objectives: The objective of the study was to evaluate the pattern, natural progression, and karyotype-related differences in FSH secretion in young, prepubertal girls with TS. Study Design: FSH was measured at study entry and annually for 2 yr. Setting: The Toddler Turner study was conducted at 11 U.S. pediatric endocrine centers. Study Participants: Eighty-eight girls with karyotype-proven TS aged 9 months to 4 yr participated in the study. Main Outcome Measures: By-karyotype differences in FSH concentration and age-related changes in FSH were measured. Results: Mean (± SD) FSH was markedly elevated in the 45,X (n = 56: 68.3 ± 36.0 IU/liter) and Other groups [n = 15 (excluding three subjects with Y-containing karyotypes): 52.7 ± 50.8 IU/liter] but was minimally elevated in girls with 45,X/46,XX mosaicism (n = 14: 10.1 ± 13.5 IU/liter, P < 0.005 both comparisons). Over the 2-yr period, FSH declined in the 45,X group (-13.4 IU/liter·yr, P < 0.0001). Nonetheless, only three of 159 FSH values fell within normal range for age at any time during the 2-yr study. FSH decline was similar in the Other group (-14.3 IU/liter·yr, P = 0.0032). In contrast, no significant decrease in FSH with age was observed in the 45,X/46,XX group. Conclusions: In contrast to the original report of FSH concentrations in individuals with TS, this study demonstrates distinct differences in patterns of FSH secretion between young girls with monosomy TS, who have persistent elevation of FSH to age 6 yr, and those with 45,X/46,XX mosaicism, whose FSH values suggest retained ovarian function in the majority. These findings have implications for patient management and family counseling.",
author = "Fechner, {Patricia Y.} and Davenport, {Marsha L.} and Qualy, {Rebecca L.} and Ross, {Judith L.} and Gunther, {Daniel F.} and Erica Eugster and Carol Huseman and Zagar, {Anthony J.} and Quigley, {Charmian A.}",
year = "2006",
month = "12",
doi = "10.1210/jc.2006-1157",
language = "English",
volume = "91",
pages = "4896--4902",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The Endocrine Society",
number = "12",

}

TY - JOUR

T1 - Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age

AU - Fechner, Patricia Y.

AU - Davenport, Marsha L.

AU - Qualy, Rebecca L.

AU - Ross, Judith L.

AU - Gunther, Daniel F.

AU - Eugster, Erica

AU - Huseman, Carol

AU - Zagar, Anthony J.

AU - Quigley, Charmian A.

PY - 2006/12

Y1 - 2006/12

N2 - Context: Little information exists regarding FSH values in very young girls with Turner syndrome (TS). Objectives: The objective of the study was to evaluate the pattern, natural progression, and karyotype-related differences in FSH secretion in young, prepubertal girls with TS. Study Design: FSH was measured at study entry and annually for 2 yr. Setting: The Toddler Turner study was conducted at 11 U.S. pediatric endocrine centers. Study Participants: Eighty-eight girls with karyotype-proven TS aged 9 months to 4 yr participated in the study. Main Outcome Measures: By-karyotype differences in FSH concentration and age-related changes in FSH were measured. Results: Mean (± SD) FSH was markedly elevated in the 45,X (n = 56: 68.3 ± 36.0 IU/liter) and Other groups [n = 15 (excluding three subjects with Y-containing karyotypes): 52.7 ± 50.8 IU/liter] but was minimally elevated in girls with 45,X/46,XX mosaicism (n = 14: 10.1 ± 13.5 IU/liter, P < 0.005 both comparisons). Over the 2-yr period, FSH declined in the 45,X group (-13.4 IU/liter·yr, P < 0.0001). Nonetheless, only three of 159 FSH values fell within normal range for age at any time during the 2-yr study. FSH decline was similar in the Other group (-14.3 IU/liter·yr, P = 0.0032). In contrast, no significant decrease in FSH with age was observed in the 45,X/46,XX group. Conclusions: In contrast to the original report of FSH concentrations in individuals with TS, this study demonstrates distinct differences in patterns of FSH secretion between young girls with monosomy TS, who have persistent elevation of FSH to age 6 yr, and those with 45,X/46,XX mosaicism, whose FSH values suggest retained ovarian function in the majority. These findings have implications for patient management and family counseling.

AB - Context: Little information exists regarding FSH values in very young girls with Turner syndrome (TS). Objectives: The objective of the study was to evaluate the pattern, natural progression, and karyotype-related differences in FSH secretion in young, prepubertal girls with TS. Study Design: FSH was measured at study entry and annually for 2 yr. Setting: The Toddler Turner study was conducted at 11 U.S. pediatric endocrine centers. Study Participants: Eighty-eight girls with karyotype-proven TS aged 9 months to 4 yr participated in the study. Main Outcome Measures: By-karyotype differences in FSH concentration and age-related changes in FSH were measured. Results: Mean (± SD) FSH was markedly elevated in the 45,X (n = 56: 68.3 ± 36.0 IU/liter) and Other groups [n = 15 (excluding three subjects with Y-containing karyotypes): 52.7 ± 50.8 IU/liter] but was minimally elevated in girls with 45,X/46,XX mosaicism (n = 14: 10.1 ± 13.5 IU/liter, P < 0.005 both comparisons). Over the 2-yr period, FSH declined in the 45,X group (-13.4 IU/liter·yr, P < 0.0001). Nonetheless, only three of 159 FSH values fell within normal range for age at any time during the 2-yr study. FSH decline was similar in the Other group (-14.3 IU/liter·yr, P = 0.0032). In contrast, no significant decrease in FSH with age was observed in the 45,X/46,XX group. Conclusions: In contrast to the original report of FSH concentrations in individuals with TS, this study demonstrates distinct differences in patterns of FSH secretion between young girls with monosomy TS, who have persistent elevation of FSH to age 6 yr, and those with 45,X/46,XX mosaicism, whose FSH values suggest retained ovarian function in the majority. These findings have implications for patient management and family counseling.

UR - http://www.scopus.com/inward/record.url?scp=33845508061&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33845508061&partnerID=8YFLogxK

U2 - 10.1210/jc.2006-1157

DO - 10.1210/jc.2006-1157

M3 - Article

VL - 91

SP - 4896

EP - 4902

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 12

ER -