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Table of Contents
LETTER TO THE EDITOR
Year : 2013  |  Volume : 17  |  Issue : 1  |  Page : 182-184

Endocrinopathy complicating a case of Tuberous sclerosis


1 Department of Endocrinology, Medwin Hospital, Hyderabad, Andhra Pradesh, India
2 Department of General Medicine, MKCG Medical College, Berhampur, Orissa, India
3 Department of Pathology, KIMS Research Foundation, Amalapuram, Andhra Pradesh, India

Date of Web Publication27-Feb-2013

Correspondence Address:
Sunil Kumar Kota
Department of Endocrinology, Medwin Hospitals, Chiragh Ali Lane, Nampally, Hyderabad 500 001, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2230-8210.107883

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How to cite this article:
Kota SK, Meher LK, Rao ES, Modi KD. Endocrinopathy complicating a case of Tuberous sclerosis. Indian J Endocr Metab 2013;17:182-4

How to cite this URL:
Kota SK, Meher LK, Rao ES, Modi KD. Endocrinopathy complicating a case of Tuberous sclerosis. Indian J Endocr Metab [serial online] 2013 [cited 2020 May 29];17:182-4. Available from: http://www.ijem.in/text.asp?2013/17/1/182/107883

Sir,

Tuberous sclerosis (TSC) is a multi-system genetic disorder affecting skin, brain/nervous system, kidneys, heart, and lung and leading to growth of non-malignant tumors. A combination of symptoms may include seizures, developmental delay, behavioral problems, skin abnormalities, lung and kidney disease. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the tumor suppressor proteins hamartin and tuberin, respectively.

A 26-year-old female with no premorbidities presented with complaints of galactorrhea for the past 10 days and menstrual irregularities over the past 6 months. Galactorrhea was spontaneous. Her last childbirth 4 years ago was uneventful. She had no headache, vomiting, visual impairment. She denied any history of substance abuse, drug intake (anti-psychotic, anti-emetic, hormonal preparations), hypothyroidism, chronic liver or kidney diseases, epilepsy. There was no significant family history. She was a well-nourished female with mild pallor, tiny nodule on face, subungual fibroma in hands [Figure 1] and [Figure 2]. There was spontaneous galactorrhea and mildly tender breasts without any signs of inflammation. Systemic examination was entirely normal with normal IQ. Ophthalmologic evaluation revealed white disk-shaped retinal hamartoma. Routine laboratory investigations including renal and liver function tests, thyroid profile were normal. Serum prolactin was 85 ng/mL with FSH-4.66 and LH-4.21 mIU/ml. In view of the theoretical possibility of involvement of cell groups of other anterior pituitary lineage, tests for evaluation of other anterior pituitary hormones were carried out and were found to be normal. Abdominal and pelvic ultrasound revealed no abnormality. Chest X-ray showed bilateral interstitial infiltrates [Figure 3]. Echocardiogram of heart was normal. Computed tomography (CT) scan revealed multiple intracerebral calcifications [Figure 4]. These calcified lesions/sub-ependymal hamartomas are seen along the lateral surface of the lateral ventricles giving rise to characteristic candle dripping appearance. Magnetic resonance imaging (MRI) of the brain ruled out the presence of any pituitary mass. The combined clinical scenario along with the radiologic findings leads to the diagnosis of TSC with hyperprolactinemia. Patient was prescribed cabergoline 0.5 mg twice-daily, which resulted in amelioration of galactorrhea and regularization of menses.
Figure 1: Tiny nodules present diffusely over face suggestive of adenoma sebacium

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Figure 2: Subungual fibromas

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Figure 3: Chest X ray PA view showing bilateral interstitial infiltrates

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Figure 4: CT Brain reveals calcified lesions/ subependymal hamartomas seen along the lateral surface of the lateral ventricles giving rise to characteristic candle dripping appearance

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Tuberous sclerosis lesions infrequently cause symptoms in the endocrine, gastrointestinal (GI), and lymphatic systems. It is unclear; however, why these organ systems should be less prone to hamartoma formation than the central nervous system, kidneys, or skin. Perhaps the hamartomas at the endocrine, GI, and lymphatic systems, remain small, clinically insignificant, and unrecognized in most cases. There is a growing body of evidence, though anecdotal, that TSC patients develop hormone-secreting tumors involving the neuroendocrine system at higher frequency than the general population. Cushing's disease, [1],[2] hypoglycemia secondary to insulinomas, [3],[4],[5],[6],[7] precocious puberty, [8],[9] thyrotoxicosis, [10] hypercalcemia secondary to parathyroid adenomas, [10],[11],[12] hyperprolactinemia, [13] and acromegaly [14] have all been reported in TSC patients. The circulating prolactin of our patient may be of pituitary origin or may possibly be secreted ectopically by a hamartoma. In addition, in at least one TSC patient, multiple endocrine abnormalities have been noted. [10] These and other clinical observations have led to speculation that there is an overlap between TSC and multiple endocrine neoplasia type 1 (MEN type 1). However, the brain, skin, and renal involvement by TSC is quite distinct from anything seen in the MEN syndromes, apart from facial angiofibromas that can be seen in 88% of patients with MEN type 1. [15] There has been evidence linking neuroendocrine tumors to the AKT/mTOR/S6 kinase pathway that is regulated by the hamartin/tuberin (TSC1/TSC2) complex. Thus, it is beginning to appear that the occurrence of these neuroendocrine tumors (NET) in TSC is more than random coincidence.

 
   References Top

1.Tigas S, Carroll PV, Jones R, Bingham E, Russell-Jones D, Powell M, et al. Simultaneous Cushing's disease and tuberous sclerosis; a potential role for TSC in pituitary ontogeny. Clin Endocrinol 2005;63:694-5.  Back to cited text no. 1
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2.Nandagopal R, Vortmeyer A, Oldfield EH, Keil MF, Stratakis CA. Cushing's syndrome due to a pituitary corticotropinoma in a child with tuberous sclerosis: An association or a coincidence? Clin Endocrinol 2007;67:639-41.  Back to cited text no. 2
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3.Gutman A, Leffkowitz M. Tuberous sclerosis associated with spontaneous hypoglycaemia. Br Med J 1959;2:1065-8.  Back to cited text no. 3
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4.Davoren PM, Epstein MT. Insulinoma complicating tuberous sclerosis. J Neurol Neurosurg Psychiatry 1992;55:1209.  Back to cited text no. 4
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5.Kim H, Kerr A, Morehouse H. The association between tuberous sclerosis and insulinoma. AJNR Am J Neuroradiol 1995;16:1543-4.  Back to cited text no. 5
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6.Boubaddi NE, Imbert Y, Tissot B, Chapus JJ, Dupont E, Gallouin D, et al. Secreting insulinoma and Bourneville's tuberous sclerosis. Gastroenterol Clin Biol 1997;21:343.  Back to cited text no. 6
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7.Eledrisi MS, Stuart CA, Alshanti M. Insulinoma in a patient with tuberous sclerosis: Is there an association? Endocr Pract 2002;8:109-12.  Back to cited text no. 7
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8.Root AW, Zamanillo J, Duckett G, Sweetlan M. Gonadotropin- independent isosexual precocity in a boy with tuberous sclerosis: Effect of ketoconazole. J Pediatr 1986;109:1012-5.  Back to cited text no. 8
    
9.de Cornulier M, David A, Cohen JY. Precocious puberty revealing Bourneville tuberous sclerosis. Arch Fr Pediatr 1993;50:421-3.  Back to cited text no. 9
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10.Ilgren EB, Westmoreland D. Tuberous sclerosis: Unusual associations in four cases. J Clin Pathol 1984;37:272-8.  Back to cited text no. 10
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11.Mortensen LS, Rungby J. Tuberous sclerosis and parathyroid adenoma. J Clin Pathol 1991;44:961-2.  Back to cited text no. 11
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12.Yin W, Zhu DM, Wang DS, Wang DX, Wu EH, Zhu XY. Parathyroid adenoma with primary hyperparathyroidism and tuberous sclerosis. A case report. Chin Med J 1984;97:599-602.  Back to cited text no. 12
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13.Bloomgarden ZT, McLean GW, Rabin D. Autonomous hyperprolactinemia in tuberous sclerosis. Arch Intern Med 1981;141:1513-5.  Back to cited text no. 13
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14.Hoffman WH, Perrin JC, Halac E, Gala RR, England BG. Acromegalic gigantism and tuberous sclerosis. J Pediatr 1978;93:478-80.  Back to cited text no. 14
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15.Darling TN, Skarulis MC, Steinberg SM, Marx SJ, Spiegel AM, Turner M. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Dermatol 1997;133:853-7.  Back to cited text no. 15
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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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