Abstract
Background:
Turner syndrome (TS) is the most common sex chromosome abnormality in females, typically associated with primary amenorrhea and premature ovarian failure due to gonadal dysgenesis. The association of TS with hypopituitarism is an uncommon finding. The objective of the study was to describe an adolescent with TS with hypergonadotropic hypogonadism and subsequent hypogonadotropic hypogonadism.
Case presentation:
A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO. Other laboratory values included FSH 45.52 IU/L, LH 17.4 IU/L, undetectable estradiol, and prolactin 1.08 nmol/L. Two months later and before treatment, she presented with severe headache and a new left cranial nerve VI palsy. Brain MRI showed a 2.7-cm hemorrhagic pituitary macroadenoma expanding the sella. Laboratory evaluation showed FSH 5.9 IU/L, LH 0.9 IU/L, prolactin 0.09 nmol/L, and GH 1.03 ng/mL. She underwent transphenoidal hypophysectomy, and pathology revealed pituitary adenoma with immunohistochemical staining positive for growth hormone and prolactin. She subsequently developed multiple pituitary hormone deficiencies. Review of the literature identified eight case reports of women with TS who developed pituitary adenomas.
Conclusions:
This case illustrates an uncommon co-occurrence of TS and pituitary macroadenoma. Sequential gonadotropin measurements demonstrate the evolution of hypergonadotropic hypogonadism into hypogonadotropic hypogonadism due to hemorrhagic pituitary macroadenoma.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Miguel-Neto J, Carvalho AB, Marques-de-Faria AP, Guerra-Junior G, Maciel-Guerra AT. New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome. J Pediatr Endocrinol Metab 2016;29:475–9.10.1515/jpem-2015-0346Search in Google Scholar
2. Chrysis D, Spiliotis BE, Stene M, Cacciari E, Davenport ML. Gonadotropin secretion in girls with turner syndrome measured by an ultrasensitive immunochemiluminometric assay. Horm Res 2006;65:261–6.10.1159/000092516Search in Google Scholar
3. Hagen CP, Main KM, Kjaergaard S, Juul A. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty. Hum Reprod 2010;25:3134–41.10.1093/humrep/deq291Search in Google Scholar
4. Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Turner’s Syndrome. J Clin Endocrinol Metab 1997;82:1810–3.Search in Google Scholar
5. Mermilliod JA, Gatchair-Rose A, Svec F. Pituitary tumor and low gonadotropins in a patient with Turner’s syndrome. J Louisiana St Med Soc 1995;147:540–3.Search in Google Scholar
6. Weibel HS, Dahan MH. Pituitary mass and subsequent involution causing fluctuations of serum follicle-stimulating hormone levels in a Turner syndrome patient with premature ovarian failure: a case report. J Reprod Med 2014;59:504–8.Search in Google Scholar
7. Gaspar L, Julesz J, Kocsis J, Pasztor E, Laszlo F. Mosaic Turner’s syndrome and pituitary microadenoma. Exp Clin Endocrinol 1985;86:87–92.10.1055/s-0029-1210477Search in Google Scholar
8. Dotsch J, Schoof E, Hensen J, Dorr HG. Prolactinoma causing secondary amenorrhea in a woman with Ullrich-Turner syndrome. Horm Res 1999;51:256–7.10.1159/000023381Search in Google Scholar
9. Willemse CH. A patient suffering from Turner’s syndrome and acromegaly. Acta Endocrinol 1962;39:204–12.10.1530/acta.0.0390204Search in Google Scholar
10. Bolanowski M, Lomna-Bogdanov E, Kosmala W, Malczewska J, Slezak R, et al. Turner’s syndrome followed by acromegaly in the third decade of life: an unusual coincidence of two rare conditions. Gynecol Endocrinol 2002;16:331–4.10.1080/gye.16.4.331.334Search in Google Scholar
11. Yamazaki M, Sato A, Nishio S, Takeda T, Miyamoto T, et al. Acromegaly accompanied by Turner syndrome with 47,XXX/45,X/46,XX mosaicism. Intern Med 2009;48:447–53.10.2169/internalmedicine.48.1157Search in Google Scholar
12. Gelfand RA. Cushing’s disease associated with ovarian dysgenesis. Am J Med 1984;77:1108–10.10.1016/0002-9343(84)90197-9Search in Google Scholar
13. Negreiros LP, Bolina ER, Guimaraes MM. Pubertal development profile in patients with Turner syndrome. J Pediatr Endocrinol Metab 2014;27:845–9.Search in Google Scholar
14. Lunding SA, Aksglaede L, Anderson RA, Main KM, Juul A, et al. AMH as predictor of premature ovarian insufficiency: a longitudinal study of 120 Turner syndrome patients. J Clin Endocrinol Metab 2015;100:E1030–8.10.1210/jc.2015-1621Search in Google Scholar PubMed
15. Scheithauer BW, Kovacs K, Horvath E, Young WF, Jr., Lloyd RV. The pituitary in Turner syndrome. Endocr Pathol 2005;16:195–200.10.1385/EP:16:3:195Search in Google Scholar
16. Guarneri MP, Abusrewil SA, Bernasconi S, Bona G, Cavallo L, et al. Turner’s syndrome. J Pediatr Endocrinol Metab 2001;14(Suppl 2):959–65.10.1515/jpem-2001-s208Search in Google Scholar
17. Bechtold S, Dalla Pozza R, Schmidt H, Bonfig W, Schwarz HP. Pubertal height gain in Ullrich-Turner syndrome. J Pediatr Endocrinol Metab 2006;19:987–93.10.1515/JPEM.2006.19.8.987Search in Google Scholar
©2017 Walter de Gruyter GmbH, Berlin/Boston