Sex Differences in Reproductive Hormones During Mini-Puberty in Infants With Normal and Disordered Sex Development

Johannsen, Trine Holm; Main, Katharina M.; Ljubicic, Marie Lindhardt; Jensen, Tina Kold; Andersen, Helle Raun; Andersen, Marianne; Petersen, Jørgen Holm; Andersson, Anna‐Maria; Juul, Anders

doi:10.1210/jc.2018-00482

Cited by 104 publications

(84 citation statements)

References 24 publications

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“…Similar results were reported by Johannsen in 2018 using a cross‐sectional design where significantly higher concentrations of serum AMH were seen in girls 3.5‐5 months of age than in younger girls between 2 and 3.5 months with a monthly increase of 31%. They also reported a similar increase for serum inhibin from 62 to 67 pg/mL …”

Section: Resultssupporting

confidence: 54%

“…The weighted mean for serum AMH from 0 to 1 years was 10.55 pmol/L (1.48 ng/mL) (data pooled from studies by Lee, Cui and Johannsen) with the weighted median being 9.85 pmol/L (1.38 ng/mL) (data pooled from studies from Lee, Hagen, Sir‐Petermann and Cui) . (Table , Figure ).…”

Section: Resultsmentioning

confidence: 98%

“…Six cross‐sectional studies used cross‐sectional data to report the mean/median serum AMH with the reference ranges (SD/10th‐90th/5‐95th/2.5‐97.5th centile) from birth into adult life . Six studies reported this data in a longitudinal study design .…”

Section: Resultsmentioning

confidence: 99%

“…Studies included in the pooled analysis; Median, Infancy: Lee, Hagen, Sir‐Petermann and Cui . Mean, Infancy: Lee, Cui and Johannsen . Median, Childhood: Lee, Cui, Lashen, Lem, Korkmaz and Sahin .…”

Section: Resultsmentioning

confidence: 99%

“…Six cross-sectional studies used cross-sectional data to report the mean/median serum AMH with the reference ranges (SD/10th-90th/5-95th/2.5-97.5th centile) from birth into adult life. [16][17][18][19][20][21] Six studies reported this data in a longitudinal study design. 16,17,[22][23][24][25] All studies show a consistent pattern of an increase in AMH in childhood, a slight decrease at puberty followed by constant levels throughout adolescence.…”

Section: Studies Reporting Outcome Data Stratified By Agementioning

confidence: 99%

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Biomarkers of ovarian reserve in childhood and adolescence: A systematic review

Bhide

Pundir

Homburg

et al. 2019

Acta Obstet Gynecol Scand

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Introduction Certain medical disorders as well as their management may affect gonadal function. Recent advances in the management of these conditions accompanied by the availability and success of methods of fertility preservation has highlighted the need for assessment of ovarian reserve in childhood and adolescence. Serum anti‐Mullerian hormone (AMH) and antral follicle count are well established markers of ovarian reserve and serum inhibin has also been used. However, literature on reference ranges for ovarian reserve markers in this age‐group is relatively scarce. Thus, our aim was to evaluate published data to estimate reference values of ovarian reserve makers in childhood and adolescence. Material and methods We performed a systematic review of the literature reporting ovarian reserve markers in childhood and adolescence. We included only those studies examining markers of ovarian reserve in the normal healthy population between the ages of 0 and 19 years. PROSPERO registration: CRD42018119064. Results Serum AMH emerged as the most common biomarker assessed. Serum AMH was detectable at birth and, after a transient increase in infancy, increased steadily in childhood. Following a slight decrease at puberty, levels were constant throughout adolescence with a peak in adolescence or early adulthood. The mean serum AMH values during infancy, childhood and adolescence were 10.55, 22.32 and 31.84 pmol/L, respectively. The corresponding median values were 9.85, 24.49 and 26.32 pmol/L. It was not possible to construct age‐specific reference intervals because of methodological heterogeneity, variations in the assay used to measure AMH and differing interval width for age used in included studies. Serum inhibin showed an increase from childhood to adolescence, with median serum inhibin values of 53.86 pg/mL in adolescence. Antral follicle count showed a significant positive correlation with serum AMH and a median value of 30.52 in adolescence. Conclusions We summarize the trends and levels of biomarkers of ovarian reserve from birth until young adulthood. Peak levels of serum AMH are reported in adolescence or early adulthood. We have reported median/mean values for serum AMH in different age‐groups based on data pooled from several studies, which may be used as a reference when evaluating ovarian reserve in childhood and adolescence especially when considering fertility preservation.

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Section: Resultssupporting

confidence: 54%

Section: Resultsmentioning

confidence: 98%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Studies Reporting Outcome Data Stratified By Agementioning

confidence: 99%

See 3 more Smart Citations

Biomarkers of ovarian reserve in childhood and adolescence: A systematic review

Bhide

Pundir

Homburg

et al. 2019

Acta Obstet Gynecol Scand

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Human sex chromosome aneuploidies: The hypothalamic–pituitary–gonadal axis

Rogol

2020

American J of Med Genetics Pt C

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Sex chromosome aneuploidies (SCA) are relatively common as a group, perhaps 1 per 500 births, but much more common at conception. Many syndromes have been noted in those with these conditions, but not so many data are available concerning the hypothalamic–pituitary–gonadal (HPG) axis. The physiology of the HPG axis is first reviewed at four epochs in time: fetal, birth and mini‐puberty, childhood, and adolescence (puberty). Those sections are followed by detailed analysis of the functioning of the HPG axis in individuals with specific SCA with chromosomal numbers ranging from 45 to 49. Robust data are available for the chromosomal complements 47,XXY and 47,XXX with fewer data available for many of the others.

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Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome

Zitzmann¹

2020

American J of Med Genetics Pt C

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Klinefelter syndrome (KS) is the most frequent sex chromosomal aneuploidy. The karyotype 47,XXY originates from either paternal or maternal meiotic nondisjunction during gametogenesis. KS males are very likely to exhibit marked gonadal dysfunctions, presenting both in severely attenuated spermatogenesis as well as hypergonadotropic hypogonadism. In addition, neurocognitive and psychosocial impairments, as well as cardiovascular, metabolic and bone disorders are often found in KS and might explain for an increased morbidity/mortality. All conditions in KS are likely to be induced by both gene overdosage effects resulting from supernumerary X‐chromosomal genes as well as testosterone deficiency. Notwithstanding, the clinical features are highly variable between KS men. Symptoms can become obvious at infancy, childhood, or adolescence. However, the majority of KS subjects is diagnosed during adulthood. KS adolescents require specific attention regarding pubertal development, in order to exploit their remaining fertility potential and allow for timely and tailored testosterone replacement. The chances for sperm retrieval might decline with age and could be hampered by testosterone replacement; therefore, cryostorage of spermatozoa is an option during adolescence, before the decompensation of endocrine and exocrine testicular functions becomes more overt. Sperm from semen or surgically retrieved, in combination with intracytoplasmic sperm injection enables KS males to become biological fathers of healthy children. The aim of this article is to present the current knowledge on KS, to guide clinical care and to highlight research needs.

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Sex Differences in Reproductive Hormones During Mini-Puberty in Infants With Normal and Disordered Sex Development

Cited by 104 publications

References 24 publications

Biomarkers of ovarian reserve in childhood and adolescence: A systematic review

Biomarkers of ovarian reserve in childhood and adolescence: A systematic review

Human sex chromosome aneuploidies: The hypothalamic–pituitary–gonadal axis

Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome

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