title: MURCS association and hypothalamic anovulation.
abstract: A new case of MURCS association (mullerian duct aplasia, renal aplasia and cervicothoracic somite dysplasia) in an 18 year old patient is reported. In addition to other minor phenotypical features, hypothalamic chronic anovulation was documented. Basal concentrations of PRL, TSH, GH, F and E were within reference values for adult women. Challenges with TRH and ACTH evoked normal responses in terms of TSH and F respectively. Basal levels of LH and FSH and a LHRH stimulation test demonstrated dissociation of both gonadotrophins. Persistent progesterone values within follicular phase levels led us to the diagnosis of hypothalamic chronic anovulation which was confirmed by the induction of ovulation by clomiphene citrate. This finding shows the importance of a detailed endocrinological evaluation in patients with the MURCS association in order to prevent secondary disorders due to endocrinological impairment.
authors.affiliation: Departamento de Biología de la Reproducción, Instituto Nacional de La Nutrición Salvador Zubirán, México, D.F.
authors.forename: J
authors.initials: J
authors.lastname: Pablo Méndez
authors.forename: M
authors.initials: M
authors.lastname: Orozco
authors.forename: A
authors.initials: A
authors.lastname: Iván Ruiz
authors.forename: E
authors.initials: E
authors.lastname: Orozco
authors.forename: L
authors.initials: L
authors.lastname: Díaz
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology; D000293:Adolescent; D000311:Adrenal Glands / Q000002:abnormalities; D000858:Anovulation / Q000209:etiology*; D005260:Female; D006801:Humans; D007027:Hypothalamic Diseases / Q000150:complications* / Q000175:diagnosis; D007668:Kidney / Q000002:abnormalities*; D009095:Mullerian Ducts / Q000002:abnormalities*; D010641:Phenotype; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities