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 Table of Contents  
Year : 2014  |  Volume : 26  |  Issue : 1  |  Page : 111-114

Orofacial manifestations of congenital hypothyroidism: Clinicoradiological case report

Department of Oral Medicine and Radiology, ITS Centre for Dental Studies and Research, Ghaziabad, Uttar Pradesh, India

Date of Submission16-Apr-2014
Date of Acceptance02-Aug-2014
Date of Web Publication26-Sep-2014

Correspondence Address:
Siddharth Srivastava
Department of Oral Medicine and Radiology, ITS Centre for Dental Studies and Research, Muradangar, Ghaziabad, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0972-1363.141876

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Thyroid disorders have a widespread effect on the ossification of cartilage, growth of teeth, facial contour, and overall body proportions. Both growth hormones and thyroid hormones show permissive action on growth stimulation. Deregulation in thyroid homeostasis can result in various orofacial and skeletal abnormalities. This report describes a case of congenital hypothyroidism in a 20-year-old female patient, presenting with a short stature, hypotonia, alopecia, euryprosopic face with puffiness, multiple retained deciduous teeth, delayed fusion of the intracranial sutures, and epiphysis and diaphysis of the long bones. Based on various biochemical and radiographic investigations, diagnosis of congenital hypothyroidism was established. Craniometry and hand-wrist radiographic evaluation of the growth pattern further aided in strengthening the diagnosis.

Keywords: Congenital hypothyroidism, dwarfism, multiple retained deciduous, oral manifestations, radiography

How to cite this article:
Suma GN, Lakhanpal M, Dhillon M, Srivastava S. Orofacial manifestations of congenital hypothyroidism: Clinicoradiological case report . J Indian Acad Oral Med Radiol 2014;26:111-4

How to cite this URL:
Suma GN, Lakhanpal M, Dhillon M, Srivastava S. Orofacial manifestations of congenital hypothyroidism: Clinicoradiological case report . J Indian Acad Oral Med Radiol [serial online] 2014 [cited 2022 May 24];26:111-4. Available from: https://www.jiaomr.in/text.asp?2014/26/1/111/141876

   Introduction Top

Congenital hypothyroidism is a common preventable cause of mental retardation. The overall incidence is approximately 1:4000, with females getting affected about twice as often as males. Approximately 85% of the cases are sporadic, while 15% are hereditary. The most common sporadic etiology is thyroid dysgenesis due to ectopic glands, rather than aplasia or hypoplasia. [1],[2],[3],[4]

Congenital hypothyroidism is characterized by dwarfism; overweight; a broad, flat nose; wide-set eyes; poor muscle tone; pale skin; retarded bone age; delayed eruption of teeth; malocclusion; a hoarse cry; an umbilical hernia; and mental retardation. [5],[6],[7] Clinical diagnosis occurs in less than 5% of newborns with hypothyroidism, because the symptoms and signs are often minimal. [2]

This case of Congenital Hypothyroidism shows how thyroid hormones have retarded the effect of growth hormones primarily on the oral and maxillofacial region, along with overall growth and energy metabolism.

   Case Report Top

A 20-year-old female patient reported to the Outpatient Department (OPD) with a chief complaint of multiple retained deciduous teeth. The patient's medical history revealed long-standing tiredness and lethargy, along with increasingly severe symptoms of somnolence, cold intolerance, constipation, and muscle stiffness with pain. She presented with poor fine-motor skills. Other features included dysmenorrhea and menorrhagia. The developmental milestones were delayed.

The patient was the youngest child among the five siblings. She was born at full term, in a normal delivery. Her eldest sister and mother suffered from hyperthyroidism and were on medication. The treatment for hyperthyroidism commenced for the mother at the time of her second pregnancy.

The general examination revealed that the patient had a short stature (114 cm) and subnormal weight for her age (20 kg), with a body mass index (BMI) of 28.6 [Figure 1]. Other features included, hoarseness of voice, proportional skeletal immaturity, cold peripheral extremities, hypotonia, alopecia, absence of secondary sexual characters, and a coarse, dry skin.
Figure 1: Twenty-year-old female with proportional skeletal immaturity and short stature

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Extraoral examination revealed a euryprosopic facial form, with puffiness of the face and periorbital swelling, with a widened nasal bridge [Figure 2]. The patient was leptoprosopic (Facial index = 92%) and dolichocephalic (Cephalic index =72.9%).
Figure 2: Euryprosopic facial form with puffiness, periorbital swelling and widened nasal bridge

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Intraoral examination showed a good oral hygiene status. Mixed dentition was present, with multiple retained deciduous teeth (53,54,55,63,64,65,73,74,75,83,85).

On the basis of the above clinical findings a provisional diagnosis of primary hypothyroidism was made. Secondary hypothyroidism, hypopituitarism, vitamin D deficiency and hypophosphatemia were considered for differential diagnosis.

Laboratory investigations were performed. The hemogram revealed a low hemoglobin level of 8.5 gm%. A peripheral smear showed normocytic normochromic red blood cells. The levels of Triiodothyronine (T3) and Thyroxine (T4) were significantly depressed at 26 ng/dl and 1.7 μg/dl, respectively. A low basal metabolic rate (BMR) of 1040 kcal was recorded. Cholesterol and glucose levels were elevated to 200 mg/dl and 123 mg/dl, respectively. The level of the growth hormone (2.45 U/L), serum calcium (4.2 mg/dl), serum phosphorus (3.4 mg/dl), and alkaline phosphatase (47 U/L) were well within normal limits.

The radiographic survey included a panoramic view, posteroanterior (PA) skull view, lateral skull view, and a hand wrist radiograph. The panoramic radiograph demonstrated multiple unerupted permanent teeth, that is, 13, 14, 15, 17, 23, 24, 25, 27, 33, 34, 35, 37, 43, 45, and 47, with incomplete apex closure [Figure 3]. The skull views showed delayed closure of coronal, sagittal, and lambdoid sutures [Figure 4]. The hand wrist radiograph revealed delayed fusion of the epiphysis and diaphysis of the phalanges, metacarpals, radius, and ulna. It also demonstrated non-ossification of the sesamoid bone and hook of the hamate [Figure 5].
Figure 3: Orthopantomogram (OPG) showing multiple unerupted permanent teeth, with incomplete apexogenesis

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Figure 4: PA skull view showing delayed fusion of the intracranial sutures

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Figure 5: Hand– wrist radiograph depicting delayed fusion of the epiphysis and diaphysis of radius and ulna, with non-ossification of the sesamoid and hook of hamate

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Ultrasonography of the thyroid with a high frequency probe featured small hypotrophic glands with decreased echogenicity and inhomogenous echotexture [Figure 6]. On the basis of clinical examination, radiography, ultrasonography, and laboratory findings, a diagnosis of congenital hypothyroidism was made.

The patient was referred to an endocrinologist, who prescribed thyroid hormone replacement therapy in the form of thyroxine sodium, 100 μgm once daily, and a comprehensive, multidisciplinary treatment was planned. The first follow-up visit, a month later, showed marked reduction in muscle stiffness and pain, cold intolerance, somnolence, and lethargy. A slight elevation in the levels of T3 (28 ng/dL), T4 (1.9 μg/dl), and Hb (9 gm%) were recorded.
Figure 6: Ultrasonograph showing a small hypotrophic thyroid gland with decreased homogenicity and an inhomogenous echotexture

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   Discussion Top

The 'mouth is a mirror of systemic diseases', as many metabolic and genetic disorders can be established by a dental professional, based on their oral manifestations. [8] Thyroid disorders are the most common among all endocrine diseases. Primary hypothyroidism is the most common, with dysfunction occurring at the level of the thyroid gland. In secondary or tertiary hypothyroidism (central hypothyroidism), the defect is at the pituitary, hypothalamus or hypothalamic portal circulation level, respectively. If left untreated congenital hypothyroidism can catapult into severe mental and growth retardation. [9]

Skeletal growth is mainly influenced by growth hormones. Thyroid hormones have a widespread effect on ossification of the cartilage, growth of teeth, facial contour, and overall body proportions. [10] In the present case, the presence of short stature (dwarfism) prompted the examiner to initiate growth hormonal assays and routine radiographic investigations, comprising of hand-wrist, and skull radiography. Low T3 and T4 levels with raised thyroid stimulating hormone (TSH) levels and a normal growth hormone assay supported the diagnosis of hypothyroidism secondary to a pituitary cause. Both growth hormones and thyroid hormones show permissive action, that is, both cannot produce normal growth individually, but when they present together, they stimulate growth. Other factors affecting growth include genetic factors, nutritional factors, environmental factors like season, exercise, emotional disturbance, and so on. [10] The present case report highlights this permissive association, where, in spite of normal growth hormones, the patient showed features of dwarfism.

A strong family history of the patient's mother and elder sister suffering from hyperthyroidism supports the contribution of genetic or environmental factors in the present case. The difference in thyroid status among siblings could be explained by the fact that the patient's mother was on antithyroid drugs during her pregnancy. [11] Also the patient came to reside in a high fluoride belt during her infancy, reiterating the fact that excess fluoride deranges the normal deiodination responsible for the synthesis of excess thyroid hormones. [12]

The manifestations of hypothyroidism result from a reduction in metabolic activity and deposition of glycosaminoglycans. [13] Facial puffiness with periorbital edema, proportional skeletal immaturity, cold extremities, coarse and dry skin, with sparse hair, voice hoarseness, and muscular hypotonia are the findings commonly observed in hypothyroidism. The presence of anemia, high serum cholesterol, and reduced BMR contribute toward the diagnosis of hypothyroidism. Anemia in patients of hypothyroidism may represent iron deficiency due to menorrhagia.

The oral manifestations include characteristic macroglossia, dysgeusia, delayed eruption, poor periodontal health, and altered tooth morphology, making it susceptible to dental caries. [14]

Ultrasonographic examination revealed small hypotrophic glands with decreased echogenicity and an inhomogenous echotexture attributed to loss of integrity of thyroid morphology. [15],[16] A radiographic survey revealed an absence of sesamoid, hook of hamate ossification along with delay in fusion of epiphysis and diaphysis of phalanges, metacarpals, radius, and ulna in the hand-wrist radiograph. [17] Findings of open sutural markings in skull radiography support the findings of a delayed growth pattern in the present case. [18]

This case report highlights how reduced levels of thyroid hormone have taken over the action of the growth hormone. The investigator further contemplates whether craniometry and hand-wrist radiography can be used to evaluate the growth pattern in thyroid patients, a facet still in the budding stage.

   Conclusion Top

Many inherited disorders manifest in the form of alterations in the anatomy and morphology of the orofacial complex, which can be first detected on a dental examination. Knowledge of such disorders leads to an evolved screening process and treatment of such patients. This case report emphasizes on the fact that congenital hypothyroidism should be considered in patients with severe dental anomalies and growth retardation.

   References Top

1.Jain V, Agarwal R, Deorari AK, Paul VK. Congenital hypothyroidism. Indian J Pediatr 2008;75:363-7.  Back to cited text no. 1
2.LaFranchi S. Congenital hypothyroidism: Etiologies, diagnosis, and management. Thyroid 1999;9:735-40.  Back to cited text no. 2
3.Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis 2010;5:17.  Back to cited text no. 3
4.Abduljabbar MA, Afifi AM. Congenital hypothyroidism. J Pediatr Endocrinol Metab 2012;25:13-29.  Back to cited text no. 4
5.Buket A, Demet ST, Sema C, Behiye B. Dental treatment way of congenital hypothyroidism: Case report. Int Dent Med Disorders 2008;1:34-6.  Back to cited text no. 5
6.Little JW. Thyroid disorders. Part II: Hypothyroidism and thyroiditis. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006;102:148-53.  Back to cited text no. 6
7.Jameson JL, Weetman AP. Disorders of the thyroid gland. In: Kasper DL, Braunwald E, Fauci AS, Hauser SL, Longo DL, Jameson JL, et al., editors. Harrison's Principles of Internal Medicine 16 th ed. New York: Mc Graw-Hill; 2005. p. 2104-7.  Back to cited text no. 7
8.Pinto A, Glick M. Management of patients with thyroid disease: Oral health considerations. J Am Dent Assoc 2002;133:849-58.  Back to cited text no. 8
9.Edwards CR, Baird JD, Frier BM, Shepherd J, Toft AD. Endocrine and metabolic diseases including diabetes mellitus. In: Edwards CR, Bouchier IA, Haslett C, Chilvers ER, editors. Davidson's Principles and Practice of Medicine. 17 th ed. New York: Churchill Livingstone; 1995. p. 685-97.  Back to cited text no. 9
10.Jain AK. Endocrine system. In: Jain AK, editor. Human Physiology for BDS. 2 nd ed. New Delhi: Avichal Publishing; 2004. p. 340-1.  Back to cited text no. 10
11.Connelly KJ, Boston BA, Pearce EN, Sesser D, Snyder D, Braverman LE, et al. Congenital hypothyroidism caused by excess prenatal maternal iodine ingestion. J Pediatr 2012;161:760-2.  Back to cited text no. 11
12.Schuld A. Is dental fluorosis caused by thyroid hormone disturbances? Fluoride 2005;38:91-4.  Back to cited text no. 12
13.Guha B, Krishnaswamy G, Peiris A. The diagnosis and management of hypothyroidism. South Med J 2002;95:475-80.  Back to cited text no. 13
14.Young ER. The thyroid gland and the dental practitioner. J Can Dent Assoc 1989;55:903-7.  Back to cited text no. 14
15.Rucha³a M, Szczepanek E, Sowiñski J. Diagnostic value of radionuclide scanning and ultrasonography in thyroid developmental anomaly imaging. Nucl Med Rev Cent East Eur 2011;14:21-8.  Back to cited text no. 15
16.Kempers MJ, van Trotsenburg AS, van Rijn RR, Smets AM, Smit BJ, de Vijlder JJ, et al. Loss of integrity of thyroidmorphology and function in children born to mothers with inadequately treated Graves' disease. J Clin Endocrinol Metab 2007;92;2984-91.  Back to cited text no. 16
17.Bhalajhi SI. Skeletal maturity indicators. In: Bhalajhi SI, editor. Orthodontics: The Art and Science. 3 rd ed. New Delhi: Arya (MEDI) Publishing House; 2006. p. 161-74.  Back to cited text no. 17
18.White CS, Pharoah JM. Systemic diseases manifested in jaws. In: White CS, Pharoah JM, editors. Oral Radiology Principles and Interpretation. 5 th ed. New Delhi: Elsevier; 2006. p. 522-3.  Back to cited text no. 18


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]

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