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1.
Hum Reprod ; 36(11): 2916-2920, 2021 10 18.
Article in English | MEDLINE | ID: mdl-34535998

ABSTRACT

Selective LH deficiency has been described in several men, but only in two women who presented normal pubertal development but secondary amenorrhoea due to anovulation. Despite its rarity, this condition represents a valuable model for studying the processes regulated by FSH or LH during late folliculogenesis and ovulation in humans. A woman previously diagnosed with selective LH deficiency due to a homozygous germline splice site mutation in LHB (IVS2 + 1G→C mutation) was submitted to an individualised ovarian induction protocol, first with recombinant LH and then with highly purified urinary hCG. Ovarian follicle growth and ovulation were achieved, and a healthy baby was born after an uneventful term pregnancy. The treatment described herein demonstrates that the clinical actions of exogenous LH or hCG in inducing late-stage follicular development in women with deficient LH production or performance might be interchangeable or inevitable, once FSH-dependent early follicular growth is assured.


Subject(s)
Anovulation , Chorionic Gonadotropin , Female , Follicle Stimulating Hormone , Humans , Luteinizing Hormone , Male , Ovulation , Ovulation Induction , Pregnancy
2.
J Clin Endocrinol Metab ; 87(8): 3702-7, 2002 Aug.
Article in English | MEDLINE | ID: mdl-12161499

ABSTRACT

FSH is a dimeric pituitary glycoprotein hormone that regulates gonadal function. Human mutations in the FSH beta gene have been shown to produce complete deficiency states in which pubertal development and reproductive capacity are inhibited. To date, no patients with partial or complete pubertal development due to FSH beta mutations have been documented in humans. We describe and characterize affected siblings, a male and a female, with evidence of pubertal development due to homozygosity for a Tyr76X nonsense mutation in the FSH beta gene. In vitro analysis of this mutant demonstrates unmeasurable FSH by immunoassay and by two different bioassays, using either cAMP (homologous FSH bioassay) or estradiol (rat granulosa cell assay) as the endpoints. In additional in vitro analyses, mutants previously found in patients with a phenotype of complete FSH deficiency (Cys51Gly and Val61X) and the Tyr76X were compared in the same immuno- and bioassays. All mutations failed to produce measurable FSH by all assays. Unexpectedly, these siblings with isolated FSH deficiency due to a nonsense FSH beta mutation had some evidence of puberty, suggesting that other factors might preserve gonadal steroidogenesis in the absence of FSH or that current bioassays cannot discriminate among very low FSH levels.


Subject(s)
Breast/growth & development , Follicle Stimulating Hormone/genetics , Oligospermia/genetics , Point Mutation , Animals , Family Health , Female , Follicle Stimulating Hormone, beta Subunit , Granulosa Cells/cytology , Humans , Male , Mutagenesis, Site-Directed , Nuclear Family , Pedigree , Phenotype , Puberty , Rats
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