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Sex-Differences in Reproductive Hormones during Mini-Puberty in Infants with Normal and Disordered Sex Development

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@article{bd20b21a39a94f24813f05a88ff8cf50,
title = "Sex-Differences in Reproductive Hormones during Mini-Puberty in Infants with Normal and Disordered Sex Development",
abstract = "CONTEXT: The early activation of the hypothalamic-pituitary-gonadal axis during infancy can be used in the evaluation of infants suspected of disorders of sex development (DSD). However, few data exists on sex-specific reference ranges for these hormones during early life.OBJECTIVE: To evaluate sex-differences in reproductive hormone concentrations in serum from healthy infants in order to define sex-specific cut-off values and to apply these in infants with DSD.DESIGN: A cross-sectional study.SETTING: A tertiary center for pediatric endocrinology at the University Hospital of Copenhagen.PATIENTS OR OTHER PARTICIPANTS: 1,840 healthy infants and 27 DSD patients aged 2-5 months.MAIN OUTCOME MEASURES: Serum concentrations of LH, FSH, testosterone, estradiol, SHBG, inhibin B, AMH, DHEA, DHEAS, 17-OHP, androstenedione, and LH/FSH-ratio.RESULTS: LH and FSH concentrations showed overlap between sexes with LH being highest in boys and FSH being highest in girls. The LH/FSH-ratio separated infant boys from girls with minimal overlap at a cut-off value of 0.32. Inhibin B and AMH concentrations were markedly higher in boys compared to girls, with minimal or no overlap, respectively. In infants with Klinefelter syndrome, 45,X/46,XY mosaicism and male phenotype, and Turner syndrome, respectively, the LH/FSH-ratio matched the gender-of-rearing. However, infants with complete androgen insensitivity syndrome had LH/FSH-ratios within male range.CONCLUSIONS: Reference ranges for reproductive hormones and LH/FSH-ratio during mini-puberty were established in this study. The classifiers that best separated sex in mini-puberty were AMH, LH/FSH-ratio and testosterone. Use of the LH/FSH-ratio may add valuable information in the work-up of infants suspected of DSD.",
author = "Johannsen, {T H} and Main, {K M} and ML Ljubicic and Jensen, {T K} and Andersen, {H R} and Andersen, {M S} and Petersen, {J H} and A-M Andersson and A Juul",
year = "2018",
doi = "10.1210/jc.2018-00482",
language = "English",
volume = "103",
pages = "3028--3037",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The/Endocrine Society",
number = "8",

}

RIS

TY - JOUR

T1 - Sex-Differences in Reproductive Hormones during Mini-Puberty in Infants with Normal and Disordered Sex Development

AU - Johannsen, T H

AU - Main, K M

AU - Ljubicic, ML

AU - Jensen, T K

AU - Andersen, H R

AU - Andersen, M S

AU - Petersen, J H

AU - Andersson, A-M

AU - Juul, A

PY - 2018

Y1 - 2018

N2 - CONTEXT: The early activation of the hypothalamic-pituitary-gonadal axis during infancy can be used in the evaluation of infants suspected of disorders of sex development (DSD). However, few data exists on sex-specific reference ranges for these hormones during early life.OBJECTIVE: To evaluate sex-differences in reproductive hormone concentrations in serum from healthy infants in order to define sex-specific cut-off values and to apply these in infants with DSD.DESIGN: A cross-sectional study.SETTING: A tertiary center for pediatric endocrinology at the University Hospital of Copenhagen.PATIENTS OR OTHER PARTICIPANTS: 1,840 healthy infants and 27 DSD patients aged 2-5 months.MAIN OUTCOME MEASURES: Serum concentrations of LH, FSH, testosterone, estradiol, SHBG, inhibin B, AMH, DHEA, DHEAS, 17-OHP, androstenedione, and LH/FSH-ratio.RESULTS: LH and FSH concentrations showed overlap between sexes with LH being highest in boys and FSH being highest in girls. The LH/FSH-ratio separated infant boys from girls with minimal overlap at a cut-off value of 0.32. Inhibin B and AMH concentrations were markedly higher in boys compared to girls, with minimal or no overlap, respectively. In infants with Klinefelter syndrome, 45,X/46,XY mosaicism and male phenotype, and Turner syndrome, respectively, the LH/FSH-ratio matched the gender-of-rearing. However, infants with complete androgen insensitivity syndrome had LH/FSH-ratios within male range.CONCLUSIONS: Reference ranges for reproductive hormones and LH/FSH-ratio during mini-puberty were established in this study. The classifiers that best separated sex in mini-puberty were AMH, LH/FSH-ratio and testosterone. Use of the LH/FSH-ratio may add valuable information in the work-up of infants suspected of DSD.

AB - CONTEXT: The early activation of the hypothalamic-pituitary-gonadal axis during infancy can be used in the evaluation of infants suspected of disorders of sex development (DSD). However, few data exists on sex-specific reference ranges for these hormones during early life.OBJECTIVE: To evaluate sex-differences in reproductive hormone concentrations in serum from healthy infants in order to define sex-specific cut-off values and to apply these in infants with DSD.DESIGN: A cross-sectional study.SETTING: A tertiary center for pediatric endocrinology at the University Hospital of Copenhagen.PATIENTS OR OTHER PARTICIPANTS: 1,840 healthy infants and 27 DSD patients aged 2-5 months.MAIN OUTCOME MEASURES: Serum concentrations of LH, FSH, testosterone, estradiol, SHBG, inhibin B, AMH, DHEA, DHEAS, 17-OHP, androstenedione, and LH/FSH-ratio.RESULTS: LH and FSH concentrations showed overlap between sexes with LH being highest in boys and FSH being highest in girls. The LH/FSH-ratio separated infant boys from girls with minimal overlap at a cut-off value of 0.32. Inhibin B and AMH concentrations were markedly higher in boys compared to girls, with minimal or no overlap, respectively. In infants with Klinefelter syndrome, 45,X/46,XY mosaicism and male phenotype, and Turner syndrome, respectively, the LH/FSH-ratio matched the gender-of-rearing. However, infants with complete androgen insensitivity syndrome had LH/FSH-ratios within male range.CONCLUSIONS: Reference ranges for reproductive hormones and LH/FSH-ratio during mini-puberty were established in this study. The classifiers that best separated sex in mini-puberty were AMH, LH/FSH-ratio and testosterone. Use of the LH/FSH-ratio may add valuable information in the work-up of infants suspected of DSD.

U2 - 10.1210/jc.2018-00482

DO - 10.1210/jc.2018-00482

M3 - Journal article

VL - 103

SP - 3028

EP - 3037

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 8

ER -

ID: 54684680