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Review
. 2023 Feb 23;12(3):e220275.
doi: 10.1530/EC-22-0275. Print 2023 Mar 1.

Serum LH/FSH ratios in 87 infants with differences of sex development

Affiliations
Review

Serum LH/FSH ratios in 87 infants with differences of sex development

Marie Lindhardt Ljubicic et al. Endocr Connect. .

Abstract

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.

Keywords: DSD; FSH; LH; LH/FSH; gonadotropins; minipuberty.

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Conflict of interest statement

The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of this review.

Figures

Figure 1
Figure 1
The ratio of luteinizing hormone (LH) and follicle-stimulating hormone (FSH), i.e. the LH/FSH ratio in serum, according to age in patients with Turner syndrome and variants (A) or Klinefelter syndrome and variants (B). Patient data are plotted against a previously published cutoff (solid black line (3)).
Figure 2
Figure 2
The ratio of luteinizing hormone (LH) and follicle-stimulating hormone (FSH), i.e. the LH/FSH ratio in serum, according to age in patients with 46,XX DSD (A) or 46,XY DSD (B). Patient data are plotted against a previously published cutoff (solid black line (3)). CAIS, complete androgen insensitivity syndrome; NR5A1, nuclear receptor subfamily 5 group A member 1 mutation; PMDS, persistent Müllerian duct syndrome; SRY, sex-determining region of the Y chromosome.
Figure 3
Figure 3
The ratio of luteinizing hormone (LH) and follicle-stimulating hormone (FSH), i.e. the LH/FSH ratio in serum, according to age in patients with congenital adrenal hyperplasia (CAH) (A) or 45,X/,46,XY mosaicism (B). Patient data are plotted against a previously published cutoff (solid black line (3)). NC, non-classical; SW, salt-wasting.

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