ESPEYB16 6. DSD and Gender Dysphoria Laboratory Medicine in DSD (1 abstracts)
6.7. Sex differences in reproductive hormones during mini-puberty in infants with normal and disordered sex development
Johannsen TH , Main KM , Ljubicic ML , Jensen TK , Andersen HR , Andersen MS , Petersen JH , Andersson AM & Juul A
J Clin Endocrinol Metab. 2018 Aug 1;103(8):3028–3037.
doi: 10.1210/jc.2018-00482. PubMed ID: 29917083
Minipuberty is a poorly understood developmental event at 1–6 months of age, during which the hypothalamic-pituitary-gonadal axis is transiently activated.
This study assessed serum reproductive hormone concentrations in 1840 healthy boys and girls aged 2 to 5 months. The findings provide sex-specific reference ranges for these hormone concentrations and cut-off values that can be of diagnostic use in DSD. AMH, LH/FSH ratio and testosterone concentrations seemed to be the best classifiers between the sexes in healthy infants during minipuberty. With the exception of the prominent difference in the LH/FSH ratio between the sexes (higher in boys than girls), most of these infancy hormone changes have been previously reported. However, the paper gives a nice summary of all commonly assessed hormones during minipuberty in normal children.
The study also demonstrated the utility of these normative values for the hormonal evaluation of DSD in 27 infants. They showed that LH/FSH ratios correlate well with the sex of rearing in infants with Klinefelter syndrome, male 45,X/46,XY mosaicism and Turner syndrome; but this is not true for all causes of DSD as shown for CAIS who were found to have high ‘male’ LH/FSH ratios. Importantly, hormone concentrations were measured by highly sensitive analytical methods that are not commonly available in clinical practice, and the provided cut-off values might be specific to these analytical methods. Therefore adoption of these measurements as a diagnostic tool and use of the provided cut-off values needs wider validation.
Volume 16
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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