Inactivating Mutations of Luteinizing Hormone beta-Subunit or Luteinizing Hormone Receptor Cause Oligo-Amenorrhea and Infertility in Women

Autor(es)

Arnhold, Ivo Jorge ^[1] ; Lofrano-Porto, Adriana ^[2] ; Latronico, Ana Claudia

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Lab Hormonios & Genet Mol, Disciplina Endocrinol, Div Endocrinol, Unidad Endoc, Dept Clin Med, Hosp Clin, Fac Med, LIM 42, BR-05403900 Sao Paulo - Brazil

^[2] Univ Brasilia, Hosp Univ Brasilia, Unidad Endocrinol, Fac Med, Brasilia, DF - Brazil

• Tipo de documento: Artigo de Revisão
• Fonte: HORMONE RESEARCH; v. 71, n. 2, p. 75-82, 2009.
• Citações Web of Science: 39

Resumo

Women harbouring inactivating mutations in luteinizing hormone (LH) beta subunit (LHB) or LH receptor (LHCGR) genes have similar clinical manifestations characterized by female external genitalia, spontaneous breast and pubic hair development at puberty, and normal or late menarche followed by oligo-amenorrhea and infertility. Oestradiol and progesterone levels are normal for the early to midfollicular phase, but do not reach ovulatory or luteal phase levels, confirming lack of ovulation. Notably, serum LH levels are low in patients with LHB mutations and high in those with LHCGR mutations, whereas follicle-stimulating hormone levels are normal or only slightly increased. Pelvic ultrasound has demonstrated a small or normal uterus and normal or enlarged ovaries with cysts. Women with LHB mutations may be treated with hCG (human chorionic gonadotropin) or LH, whereas those with mutations in LHCGR are resistant. Lhb and Lhcgr knockout female mice are close phenocopies of the respective human mutations, and confirm that early follicular development, low levels of oestrogen production and theca cell development are independent of LH action, which is necessary for ovulation. Although inactivating mutations in LHB and LHCGR are rare in comparison to other genetic and non-genetic causes of hypogonadism, they should be considered in the differential diagnosis of oligo-amenorrhea and infertility. Copyright (C) 2009 S. Karger AG, Basel (AU)

• Processo FAPESP: 05/04726-0 - Caracterização molecular das doenças endócrinas congênitas que afetam o crescimento e o desenvolvimento
• Beneficiário: Ana Claudia Latronico Xavier
• Modalidade de apoio: Auxílio à Pesquisa - Temático