Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone β subunit mutation
Received 12 April 2007; received in revised form 22 July 2007; accepted 23 July 2007. published online 24 October 2007.
Objective
To quantify gonadal steroid responses to different gonadotropin regimens.
Design
Transversal clinical study.
Setting
Academic medical center.
Patient(s)
A 41-year-old woman and her 37-year-old brother with isolated FSH deficiency due to a homozygous Tyr76X FSH β subunit gene (FSHB) mutation.
Intervention(s)
Initially, serial LH samples were drawn overnight. After 2-day dexamethasone suppression, steroids were measured at baseline and after hCG, recombinant FSH, or hCG + recombinant FSH administration.
Main Outcome Measure(s)
Pulse number, peak amplitude, and mean overnight LH levels, as well as basal and stimulated FSH, LH, T, E2, DHEAS, 17α-hydroxyprogesterone (17-OHP), and androstenedione (A).
Result(s)
The mean ±SD overnight LH was 49.2 ± 5.7 mIU/mL and 9.1 ± 2.9 mIU/mL; there were 8 pulses/8 hours and 9 pulses/9 hours, with mean amplitudes of 53.4 ± 6.5 mIU/mL and 11.7 ± 1.9 mIU/mL, for the woman and man, respectively. There was no steroid response to recombinant FSH, hCG, or hCG + recombinant FSH in the woman. In the man, T increased after hCG, recombinant FSH, and hCG + recombinant FSH, whereas E2, A, and 17-OHP increased only after hCG + recombinant FSH.
Conclusion(s)
This report constitutes the first detailed endocrine study of a man with isolated FSH deficiency due to an FSHB mutation and suggests that FSH may have a positive regulatory effect on healthy LH-stimulated Leydig cells, probably mediated by its primary action on Sertoli cells, in a paracrine mechanism.
aSection of Endocrinology, Department of Medicine, Faculty of Medicine, University Hospital of Brasilia, University of Brasilia, Brasília, DF, Brazil
bSection of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Faculty of Medicine, University Hospital of Brasilia, University of Brasilia, Brasília, DF, Brazil
cSection of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Reproductive Medicine Program, Developmental Neurobiology Program, The Institute of Molecular Medicine and Genetics, The Neuroscience Program, Medical College of Georgia, Augusta, Georgia
Reprint requests: Adriana Lofrano-Porto, M.D., SHIN QI 12 conjunto 02 casa 16, Lago Norte, Brasilia, DF, Brazil CEP 71525-220 (FAX: 55-61-3442-8367).
Presented at the 27th Brazilian Congress of Endocrinology and Metabolism, Recife, PE, Brazil, September 6–9, 2006.
ABSTRACT