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Title
Autoimmune hypogonadism as part of an autoimmune polyglandular syndrome
Author:
Maclaren, N; Chen, QY; Kukreja, A; Marker, J; Zhang, CH; Sun, ZS;
Addresses:
Cornell Univ, Weill Med Coll, Dept Pediat, New York, NY 10021 USA Cornell Univ New York NY USA 10021 l, Dept Pediat, New York, NY 10021 USA
Heading Title:
JOURNAL OF THE SOCIETY FOR GYNECOLOGIC INVESTIGATION
issue: 1, volume: 8, year: 2001, supplement:, S
pages: S52 - S54
SICI:
1071-5576(200101/02)8:1<S52:AHAPOA>2.0.ZU;2-5
Source:
ISI
Language:
ENG
Subject:
ADDISONS-DISEASE; AUTOANTIGEN; CLONING; GENE;
Keywords:
ovary; autoimmunity; adrenal; Addison's disease;
Document Type:
Article
Nature:
Serial
Edition:
Clinical Medicine
Citations:
12
Reviewed:
Addresses for extracts:
Address: Maclaren, N Cornell Univ, Weill Med Coll, Dept Pediat, 1300 York Ave, New York, NY 10021 USA Cornell Univ 1300 York Ave New York NY USA 10021 NY 10021 USA
Citation:
N. Maclaren and others, "Autoimmune hypogonadism as part of an autoimmune polyglandular syndrome", J SOC GYN I, 8(1), 2001, pp. S52-S54

Abstract

The most compelling case for autoimmune mediated hypogonadism occurs when ovarian failure is part of an autoimmune polyglandular syndrome (APS). In patients with the rare, recessively inherited type 1 APS (APS-1), characterized by the triad of chronic mucocutaneous moniliasis, hypoparathyroidism, and Addison's disease, primary amenorrhea (elevated pituitary gonadotropins)or oligomenorrhea and infertility are constant features. Ovarian failure is associated with autoantibodies to steroid hormone secreting cells in the adrenal cortex, Leydig cells of the testes, granulosa/thecal cells of the Graffian follicles, corpus luteum, and the syncytiotrophoblast of the placenta. These autoantibodies react with 3 P450 enzymes involved with steroidogenesis, namely, 21-hydroxylase (adrenal specific), 17 alpha -hydroxylase, and the side chain cleavage enzyme. Recently the 14 exon, APS-1 (autoimmune regulator or AIRE) gene has been cloned (chr. 21p22.3), and multiple mutantsdiscovered. Parents who are obligatory heterozygotes for a single mutant gene lack clinical features of APS-1. They also do not develop APS-1 autoantibodies. Thus, hypogonadal patients without features of APS-1 are unlikely to have AIRE gene mutations. In the more common APS-2/3, characterized by combinations of autoimmune thyroid disease, immune mediated type 1 diabetes,vitiligo, pernicious anemia, and Addison's disease (type 2, not type 3), ovarian disease may be seen. In primary hypogonadism outside of the context of an APS, these autoantibodies are rare. (J Soc Gynecol Investig 2001;8:S52-S54) Copyright (C) 2001 by the Society for Gynecologic Investigation.

ASDD Area Sistemi Dipartimentali e Documentali, Bologna University, Review Catalogue
Document created on 12/12/19 at 10:06:06