Abstract
An 18-year-old female was referred to our clinic due to primary amenorrhea, following secondary panhypopituitarism after craniopharyngioma surgical treatment at the age of nine; when she also underwent a ventriculocisternostomy. Subsequently, a ventriculoperitoneal shunt was placed, and later she started radiotherapy. Over the years, she developed panhypopituitarism, metabolic syndrome, long QT syndrome, and vitamin D deficiency. She was also found to be a carrier of HbS heterozygosity and anti-thrombin III (AT) deficiency. At the time of our medical examination, the patient was being treated with hydrocortisone, vasopressin, levothyroxine, propanolol, cholecalciferol, metformin, and somatotropin. Furthermore, a transdermal patch with estradiol was started 2 years back and gradually increased to 25 mcg every 2-3 days. A pelvic magnetic resonance imaging (MRI) showed a small uterus for her age and no signs of ovarian function. The patient’s blood test confirmed a hypogonadotropic hypogonadism and together with the MRI suggested a suboptimal dosage provided by the estradiol patch. The patient also had a coagulation disorder and several risk factors which made the clinical picture complex.
References
PDQ Pediatric Treatment Editorial Board. Childhood Craniopharyngioma Treatment (PDQ®): Patient Version. 2022 Dec 7. In: PDQ Cancer Information Summaries [Internet]. Bethesda (MD): National Cancer Institute (US); 2002–.
Jensterle M, Jazbinsek S, Bosnjak R, et al. Advances in the management of craniopharyngioma in children and adults. Radiol Oncol. 2019;53:388-96.
Jazbinšek S, Kolenc D, Bošnjak R, et al. Prevalence of endocrine and metabolic comorbidities in a national cohort of patients with craniopharyngioma. Horm Res Paediatr. 2020;93:46-57.
Madsen PJ, Buch VP, Douglas JE, et al. Endoscopic endonasal resection versus open surgery for pediatric craniopharyngioma: comparison of outcomes and complications. J Neurosurg Pediatr. 2019:1-10.
Pascual JM, González-Llanos F, Barrios L, Roda JM. Intraventricular craniopharyngiomas: topographical classification and surgical approach selection based on an extensive overview. Acta Neurochir (Wien). 2004;146:785-802.
Lubuulwa J, Lei T. Pathological and topographical classification of craniopharyngiomas: a literature review. J Neurol Surg Rep. 2016;77:e121-7.
Hölsken A, Sill M, Merkle J, et al. Adamantinomatous and papillary craniopharyngiomas are characterized by distinct epigenomic as well as mutational and transcriptomic profiles. Acta Neuropathol Commun. 2016;4:20.
Caldarelli M, Massimi L, Tamburrini G, Cappa M, Di Rocco C. Long-term results of the surgical treatment of craniopharyngioma: the experience at the Policlinico Gemelli, Catholic University, Rome. Childs Nerv Syst. 2005;21:747-57.
Ciurea AV, Saceleanu V, Mohan A, Moreanu MS, Toader C. Craniopharyngiomas in children – experience of consecutive 152 operated cases. Acta Endocrinol (Buchar). 2020;16:103-9.
Goldney RD. Craniopharyngioma simulating anorexia nervosa. J Nerv Ment Dis. 1978;166:135-8.
Diamanti A, Ubertini GM, Basso MS, et al. Amenorrhea and weight loss: not only anorexia nervosa. Eur J Obstet Gynecol Reprod Biol. 2012;161:111-2.
Begon S, Leyendecker G, Fahlbusch R, Buchfelder M, Wildt L. Pulsatile administration of gonadotrophin releasing hormone as a diagnostic tool to distinguish hypothalamic from pituitary hypogonadism following neurosurgery. Hum Reprod. 1993;8 Suppl 2:200-3.
Simonin A, Bangash O, Henley D, Bala A. Endonasal endoscopic resection of suprasellar craniopharyngioma: A retrospective single-center case series. J Clin Neurosci. 2020;81:436-41.
Tsoukalas N, Tolia M, Kostakis ID, et al. Coexistence of intracranial germ cell tumor and craniopharyngioma in an adolescent: case report and review of the literature. Int J Clin Exp Med. 2013;6:211-8.
Guaraldi F, Prencipe N, di Giacomo V, et al. Association of craniopharyngioma and pituitary adenoma. Endocrine. 2013;44:59-65.
Erel CT, Oral E, Senturk LM, Aksu MF. Craniopharyngioma and Bardet-Biedl syndrome. A case report. J Reprod Med. 2001;46:501-3.
Baskin DS, Wilson CB. Surgical management of craniopharyngiomas. A review of 74 cases. J Neurosurg. 1986;65:22-7.
Ferrari C, Crosignani PG. Hypothalamic disease presenting as amenorrhoea: value of computed tomography. Br J Obstet Gynaecol. 1985;92:1251-7.
Olson BR. Endocrinology teaching rounds: primary amenorrhea in a 17-year-old woman. J Womens Health Gend Based Med. 2000;9:489-94.
Trokoudes KM, Walfish PG, Holgate RC, Pritzker KP, Schwartz ML, Kovacs K. Sellar enlargement with hyperprolactinemia and a Rathke’s pouch cyst. JAMA. 1978;240:471-3.
Kapcala LP, Molitch ME, Post KD, et al. Galactorrhea, oligo/amenorrhea, and hyperprolactinemia in patients with craniopharyngiomas. J Clin Endocrinol Metab. 1980;51:798-800.
Nakasu Y, Nakasu S, Handa J, Takeuchi J. Amenorrhea-galactorrhea syndrome with craniopharyngioma. Surg Neurol. 1980;13:154-6.
Brandeis V, Kemmann E, Jones JR. Hyperprolactinemic amenorrhea in a woman with a craniopharyngioma: persisting amenorrhea after prolactin suppression with bromocriptine. Am J Obstet Gynecol. 1983;147:109-11.
Arem R, Zoghbi W, Chan L. Amenorrhea-galactorrhea and craniopharyngioma. Surg Neurol. 1983;20:109-12.
Gamblin GT, James LP, Thomas J, Six E, Eil C. Simulation of a prolactin-secreting adenoma by an intrasellar craniopharyngioma. Neurosurgery. 1985;16:689-92.
Koloszár S, Bártfai G. Pulsatile gonadotropin releasing hormone substitution following extirpation of suprasellar craniopharyngioma. J Endocrinol Invest. 1990;13:753-6.
Lydic ML, Rebar RW. Expectant management of a hypothalamic mass: a case report. Obstet Gynecol. 1995;85:880-2.
Partington MD, Radkowski MA, Tomita T. 16-year-old female with amenorrhea. Pediatr Neurosurg. 1998;28:43-8.
Xu X, Shigemori M. Microsurgical management of craniopharyngiomas–outcomes in 56 patients. Kurume Med J. 1998;45:53-7.
Larijani B, Bastanhagh MH, Pajouhi M, Kargar Shadab F, Vasigh A, Aghakhani S. Presentation and outcome of 93 cases of craniopharyngioma. Eur J Cancer Care (Engl). 2004;13:11-5.
Imtiaz KE, Abdo K. Craniophrangioma: a diagnosis not to be missed. QJM. 2011;104:715-6.
Ramanbhavana VS, Vara Prasad KS. A case series of craniopharyngioma: epidemiological study and management analysis at tertiary care center. Asian J Neurosurg. 2019;14:1196-202.
Dunkel L, Quinton R. Transition in endocrinology: induction of puberty. Eur J Endocrinol. 2014;170:R229-39.
Shah S, Forghani N, Durham E, Neely EK. A randomized trial of transdermal and oral estrogen therapy in adolescent girls with hypogonadism. Int J Pediatr Endocrinol. 2014;2014:12.
Allman-Farinelli MA. Obesity and venous thrombosis: a review. Semin Thromb Hemost. 2011;37:903-7.
Stokes S, Breheny P, Radulescu A, Radulescu VC. Impact of obesity on the risk of venous thromboembolism in an inpatient pediatric population. Pediatr Hematol Oncol. 2014;31:475-80.
Medical eligibility criteria for contraceptive use. Fifth Edition, 2015. Available at: https://www.who.int/publications/i/item/9789241549158. Accessed September 10, 2022.
Tait RC, Walker ID, Perry DJ, et al. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol. 1994;87:106-12.
Pabinger I, Thaler J. How I treat patients with hereditary antithrombin deficiency. Blood. 2019;134:2346-53.
Phillippe HM, Hornsby LB, Treadway S, Armstrong EM, Bellone JM. Inherited thrombophilia. J Pharm Pract. 2014;27:227-33.
Trenor CC 3rd, Chung RJ, Michelson AD, et al. Hormonal contraception and thrombotic risk: a multidisciplinary approach. Pediatrics. 2011;127:347-57.
Olson ST, Björk I, Sheffer R, Craig PA, Shore JD, Choay J. Role of the antithrombin-binding pentasaccharide in heparin acceleration of antithrombin-proteinase reactions. Resolution of the antithrombin conformational change contribution to heparin rate enhancement. J Biol Chem. 1992;267:12528-38.
Lazzerini PE, Capecchi PL, Laghi-Pasini F. Long QT syndrome: an emerging role for inflammation and immunity. Front Cardiovasc Med. 2015;2:26.
Kang DG, Kim SE, Park MS, et al. Acquired Long QT syndrome manifesting with Torsades de Pointes in a patient with panhypopituitarism due to radiotherapy. Korean Circ J. 2013;43:340-2.
Lane JD, Keenan NG, Bouloux P, Rogers D. A heart without hormones. Lancet. 2012;379:1922.
Mueller NT, Liu T, Mitchel EB, et al. Sex hormone relations to histologic severity of pediatric nonalcoholic fatty liver disease. J Clin Endocrinol Metab. 2020;105:3496-504.
DiStefano JK. NAFLD and NASH in postmenopausal women: implications for diagnosis and treatment. Endocrinology. 2020;161:bqaa134.
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