Ljubicic Marie Lindhardt, Johannsen Trine Holm, Fischer Margit Bistrup, Upners Emmie N, Busch Alexander S, Main Katharina M, Andersson Anna-Maria, Hagen Casper P, Juul Anders
Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Endocr Connect. 2023 Feb 23;12(3). doi: 10.1530/EC-22-0275. Print 2023 Mar 1.
The ratio between luteinizing hormone (LH) and follicle-stimulating hormone (FSH) has previously been described as an excellent marker of sex in healthy infants. However, LH/FSH remains not fully described in patients with differences of sex development (DSD). The aim was therefore to describe LH/FSH in infants with DSD. This was a retrospective study of DSD patients, all aged 0-1.2 years. In total, 87 infants with DSD and at least one serum sample per infant were included. Longitudinal samples from single patients were included whenever possible. Serum LH/FSH ratios in these patients were plotted against recently published age-related and sex-dimorphic cutoffs. Overall, LH/FSH sometimes corresponded to assigned sex without any obvious pattern in terms of diagnoses. LH/FSH corresponded to the biological sex in all patients with Turner or Klinefelter syndrome. In patients with 46,XX or 46,XY DSD (except congenital adrenal hyperplasia (CAH)), the ratios did not correspond to the assigned sex in all cases and were interchangeably within the male and female range. In patients with CAH, the ratio corresponded to biological sex (based on sex chromosomes) in some cases but also ranged across the cutoffs. In the 15 patients with 45,X/46,XY mosaicism, the LH/FSH ratios corresponded to the assigned sex in all cases (12 were raised as males, 3 as females) and at all time points in cases with multiple sampling. While this study describes LH/FSH in infants with DSD, the exact clinical role of the ratio in the management of these patients remains to be further elucidated.
促黄体生成素（LH）与促卵泡生成素（FSH）的比值先前已被描述为健康婴儿性别的优良标志物。然而，在性发育差异（DSD）患者中，LH/FSH仍未得到充分描述。因此，本研究旨在描述DSD婴儿的LH/FSH情况。这是一项对DSD患者的回顾性研究，所有患者年龄均在0至1.2岁之间。总共纳入了87例DSD婴儿，且每个婴儿至少有一份血清样本。尽可能纳入了单例患者的纵向样本。将这些患者的血清LH/FSH比值与最近公布的年龄相关和性别二态性临界值进行对比。总体而言，LH/FSH有时与指定性别相符，但在诊断方面没有明显模式。在所有特纳综合征或克氏综合征患者中，LH/FSH与生物学性别相符。在46,XX或46,XY DSD患者（先天性肾上腺皮质增生症（CAH）除外）中，该比值并非在所有情况下都与指定性别相符，且在男性和女性范围内相互交错。在CAH患者中，该比值在某些情况下与生物学性别（基于性染色体）相符，但也跨越了临界值范围。在15例45,X/46,XY嵌合体患者中，LH/FSH比值在所有情况下（12例作为男性升高，3例作为女性升高）以及多次采样情况下的所有时间点均与指定性别相符。虽然本研究描述了DSD婴儿的LH/FSH情况，但该比值在这些患者管理中的确切临床作用仍有待进一步阐明。
