Serum LH/FSH ratios in 87 infants with differences of sex development
Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
Standard
Serum LH/FSH ratios in 87 infants with differences of sex development. / 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.
I: Endocrine Connections, Bind 12, Nr. 3, e220275, 2023.Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - Serum LH/FSH ratios in 87 infants with differences of sex development
AU - Ljubicic, Marie Lindhardt
AU - Johannsen, Trine Holm
AU - Fischer, Margit Bistrup
AU - Upners, Emmie N.
AU - Busch, Alexander S.
AU - Main, Katharina M.
AU - Andersson, Anna Maria
AU - Hagen, Casper P.
AU - Juul, Anders
N1 - Publisher Copyright: © 2023 the author(s) Published by Bioscientifica Ltd.
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
KW - DSD
KW - FSH
KW - gonadotropins
KW - LH
KW - LH/FSH
KW - minipuberty
U2 - 10.1530/EC-22-0275
DO - 10.1530/EC-22-0275
M3 - Review
C2 - 36696141
AN - SCOPUS:85149103682
VL - 12
JO - Endocrine Connections
JF - Endocrine Connections
SN - 2049-3614
IS - 3
M1 - e220275
ER -
ID: 366041281