Endocrine evaluation in a patient with MURCS association and ovarian agenesis |
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| Authors: | J P Mendez A Ulloa-Aguirre F J Sánchez O Mutchinick G Pérez-Palacios |
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| Institution: | 1. Department of Neurology, Tohoku University Graduate School of Medicine, Japan;2. Department of Education and Support for Regional Medicine, Tohoku University Hospital, Japan;3. Department of Neurosurgery, National Hospital Organization Sendai Medical Center, Japan;4. Department of Neurology, Izumi Hospital, Japan;1. Pediatric Surgery Department, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, Portugal;2. Neonatal Intensive Care Unit, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, Portugal;3. Pediatric Surgery Department, Urology Unit, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, Portugal |
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| Abstract: | 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. |
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