Endocrine evaluation in a patient with MURCS association and ovarian agenesis.
A new case of Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia (MURCS association) in a 16-yr-old female patient is reported. In addition, agenesis of the right ovary plus hypoplasia of the right craniofacial bones were also present. Dynamic tests of anterior pituitary reserve (LH-RH, TRH and hypoglycemia) showed normal responsiveness of this gland in terms of LH, FSH, TSH, prolactin and growth hormone secretion, whilst a subnormal plasma cortisol response to hypoglycemia and exogenous ACTH (in the presence of unilateral adrenal agenesis) was found. Functional integrity of the hypothalamic-pituitary-ovarian axis was also documented. The presence of two additional and previously unreported congenital anomalies in this patient with MURCS association underlines the wide spectrum of the syndrome.
D000015:Abnormalities, Multiple; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D007714:Klippel-Feil Syndrome / Q000097:blood* / Q000000981:diagnostic imaging; D010053:Ovary / Q000002:abnormalities; D010907:Pituitary Hormones / Q000097:blood*; D011859:Radiography; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities
D010907:Pituitary Hormones