ECE2011 Poster Presentations Clinical case reports (73 abstracts)
Unexpected association: Turner syndrome and hypopituitarism: a case report
C Cucu 1, , C Poiana 1, , D Hortopan 2 , A Dumitrascu 2 , O Popa 2 , S Gurau 2 , R Danciulescu 1 & M Musat 1,
1Carol Davila University of Medicine and Pharmacy, Bucharest, Romania; 2C.I.Parhon National Institute of Endocrinology, Bucharest, Romania.
Introduction: Turner syndrome is a common cause of dwarfism and hypogonadism as is pituitary failure. However the association of the two is rarely thought and reported in the literature. We present two cases of women with hypogonadism diagnosed with Turner syndrome with various degrees of pituitary insuficiency.
Case report: The first case presented at 16 years with secondary amenorrhea and showed slightly disharmonic dwarfism. A hypogonadotropic hypogonadism was unraveled, so additional investigations targeting pituitary function were undertaken; low GH levels (<2 ng/ml) and lack of increment of cortisol levels during and after insulin induced hypoglycemia provided additional proves of pituitary failure. The MRI scan denied pituitary mass and showed pituitary hypoplasia, and ectopic posterior pituitary. Abnormal karyotype was also revealed: mosaicism 45X0 (30%)/46XX (70%).
The second case presented at 48 years, with a diagnosis of Turner syndrome since the age of 5. She had had estrogen-induced puberty then discontinuated hormone replacement. At presentation the patient was 147 cm tall and had bilateral Madelung’s deformity, associated hypothyroidism on thyroxine replacement, partial hearing loss, renal duplication, and hypertension, impaired glucose tolerance test and osteoporosis. FSH level was inappropriately normal for her condition at 7.5 mIU/l and a CT scan of the pituitary revealed empty sella with pituitary hypoplasia. Karyotype: 45XO.
Conclusion: We report these two interesting cases of an unusual association of Turner syndrome and hypopituitarism of different etiologies to challenge the use of gonadotroph classification of hypogonadism and widen the perspective of seeking multiple syndrome association.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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