title: Male infertility as a component of Carney complex.
abstract: Carney complex (CNC) is a multiple neoplasia syndrome characterised by endocrine tumours, spotty skin pigmentation, cardiac and other myxomas, psamommatous and pigmented schwannomas, large cell calcifying Sertoli cell tumours, and mammary ductal adenomas and other more rare lesions. CNC is inherited in an autosomal-dominant manner and has been mapped to at least two chromosomal loci. Patients who map to the CNC1 locus located on chromosome 17 carry inactivating mutations of the PRKAR1A gene that encodes the cAMP-dependent protein kinase regulatory subunit type 1-alpha (Kirschner et al., 2000). One gene responsible for type 2 (CNC2) is located on chromosome 2p16. Infertility in CNC can be caused by a number of factors; there is evidence that prkar1a deficiency in mice leads directly to infertility (Burton et al., 2006), but patients with CNC also have Sertoli cell tumours and a number of other reasons to affect fertility. We report on an infertile male with CNC and present evidence that male infertility should be considered as part of the phenotype of CNC.
authors: Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany. wieacker@uni-muenster.de
authors: P
authors: P
authors: Wieacker
authors: C A
authors: CA
authors: Stratakis
authors: A
authors: A
authors: Horvath
authors: S
authors: S
authors: Klose
authors: I
authors: I
authors: Nickel
authors: P
authors: P
authors: Buhtz
authors: P
authors: P
authors: Muschke
mesh_terms: D000328:Adult; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; D017868:Cyclic AMP-Dependent Protein Kinases / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000150:complications* / Q000235:genetics; D009232:Myxoma / Q000150:complications* / Q000235:genetics; D010859:Pigmentation Disorders / Q000150:complications* / Q000235:genetics; D013577:Syndrome
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; D017868:Cyclic AMP-Dependent Protein Kinases