title: Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review.
abstract: Kennedy's disease, also known as bulbospinal muscular atrophy, is a rare, X-linked recessive neurodegenerative disorder affecting adult males. It is caused by expansion of an unstable cytosine-adenine-guanine tandem-repeat in exon 1 of the androgen-receptor gene on chromosome Xq11-12, and is characterized by spinal motor neuron progressive degeneration. Endocrinologically, these patients often have the features of hypogonadism associated to the androgen insensitivity syndrome, particularly its partial forms. We report 4 cases with the typical neurological presentation, consisting of slowly progressing generalized muscle weakness with atrophy and bulbar muscle involvement; these patients also had several endocrine manifestations; the most common non-neurological manifestation was gynecomastia. In all cases reported, molecular analysis showed an abnormal cytosine-adenine-guanine triplet repeat expansion in the androgen receptor gene.
authors: Servicio Endocrinología y Nutrición, Hospital Universitario Bellvitge, L'Hospitalet de Llobregat, Barcelona, España. Electronic address: ro.valera83@gmail.com.
authors: Rocío
authors: R
authors: Valera Yepes
authors: Servicio Endocrinología y Nutrición, Hospital Universitario Bellvitge, L'Hospitalet de Llobregat, Barcelona, España. Electronic address: mvirgili@bellvitgehospital.cat.
authors: Maria
authors: M
authors: Virgili Casas
authors: Servicio de Neurología, Hospital Universitario Bellvitge, L'Hospitalet de Llobregat, Barcelona, España. Electronic address: mpovedano@bellvitgehospital.cat.
authors: Monica
authors: M
authors: Povedano Panades
authors: Servicio Endocrinología y Nutrición, Hospital Universitario Bellvitge, L'Hospitalet de Llobregat, Barcelona, España. Electronic address: mguerrero@bellvitgehospital.cat.
authors: Mireia
authors: M
authors: Guerrero Gual
authors: Servicio Endocrinología y Nutrición, Hospital Universitario Bellvitge, L'Hospitalet de Llobregat, Barcelona, España. Electronic address: cvillabona@bellvitgehospital.cat.
authors: Carles
authors: C
authors: Villabona Artero
mesh_terms: D000328:Adult; D000368:Aged; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D005640:Follicle Stimulating Hormone / Q000378:metabolism; D007987:Gonadotropin-Releasing Hormone / Q000494:pharmacology; D006177:Gynecomastia / Q000209:etiology; D006728:Hormones / Q000097:blood; D006801:Humans; D007986:Luteinizing Hormone / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000209:etiology; D011944:Receptors, Androgen / Q000235:genetics; D019680:Trinucleotide Repeat Expansion
chemical_list: D006728:Hormones; D011944:Receptors, Androgen; D007987:Gonadotropin-Releasing Hormone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D003402:Creatine Kinase
keywords: Androgen receptors; Atrofia bulbo espinal ligada al X; Complete androgen insensitivity syndrome; Enfermedades genéticas ligadas al X; Expansión de la repetición de trinucleótidos; Partial androgen insensitivity syndrome; Receptores androgénicos; Síndrome de resistencia androgénica completa; Síndrome de resistencia androgénica parcial; Trinucleotide repeat expansion; X-linked bulbospinal atrophy; X-linked genetic diseases