Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone β subunit mutation

Adriana Lofrano-Porto, Luiz Augusto Casulari, Paula P. Nascimento, Leonardo Giacomini, Luciana A. Naves, Lucilia Domingues Casulari da Motta, Lawrence C Layman

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1169-1174
Number of pages6
JournalFertility and Sterility
Volume90
Issue number4
DOIs
StatePublished - Oct 1 2008

Fingerprint

Follicle Stimulating Hormone
Chorionic Gonadotropin
Siblings
Steroids
Mutation
17-alpha-Hydroxyprogesterone
Leydig Cells
Androstenedione
Sertoli Cells
Gonadotropins
Dexamethasone
Outcome Assessment (Health Care)
Genes
Isolated Follicle-stimulating hormone deficiency

Keywords

  • FSH deficiency
  • FSHB mutation
  • gonadal steroidogenesis
  • ovary
  • testes

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Reproductive Medicine

Cite this

Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone β subunit mutation. / Lofrano-Porto, Adriana; Casulari, Luiz Augusto; Nascimento, Paula P.; Giacomini, Leonardo; Naves, Luciana A.; da Motta, Lucilia Domingues Casulari; Layman, Lawrence C.

In: Fertility and Sterility, Vol. 90, No. 4, 01.10.2008, p. 1169-1174.

Research output: Contribution to journalArticle

Lofrano-Porto, Adriana ; Casulari, Luiz Augusto ; Nascimento, Paula P. ; Giacomini, Leonardo ; Naves, Luciana A. ; da Motta, Lucilia Domingues Casulari ; Layman, Lawrence C. / Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone β subunit mutation. In: Fertility and Sterility. 2008 ; Vol. 90, No. 4. pp. 1169-1174.
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AU - Casulari, Luiz Augusto

AU - Nascimento, Paula P.

AU - Giacomini, Leonardo

AU - Naves, Luciana A.

AU - da Motta, Lucilia Domingues Casulari

AU - Layman, Lawrence C

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