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Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
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CASE REPORT
Year : 2014  |  Volume : 32  |  Issue : 3  |  Page : 246-250
 

Telltale teeth: Idiopathic Hypergonadotropic Hypogonadism


1 Professor, Pedodontics and Preventive Dentistry, Sinhgad Dental College and Hospital, Pune, Maharashtra, India
2 Lecturer, Pedodontics and Preventive Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Pune, Maharashtra, India

Date of Web Publication2-Jul-2014

Correspondence Address:
G S Lele
Sinhgad Dental College and Hospital, Vadgaon Budruk, Pune - 411 041, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.135839

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   Abstract 

The detection of any atypical extraoral or intraoral features warrants a thorough investigation, even if the patient is asymptomatic or unaware of these. At times, dental findings help in the diagnosis of an underlying systemic problem. These findings may or may not be associated with any syndrome. Thus, thorough examination and exhaustive investigations should be carried out for every atypical finding to ensure optimal oral and general health for the patient. Case Description: This is a case report of seventeen year old male who presented with peculiar/atypical dentition which 'told the tale' and led to the diagnosis of underlying endocrinological problem about which the parents were totally unaware. The patient was short with central obesity and microcephaly. Intraorally, there was presence of thirty six microdonts. Consultation with pediatrician and endocrinologist, and thorough investigations confirmed the condition to be of 'Idiopathic Hypergonadotropic Hypogonadism'. The patient underwent not only oral rehabilitation, but also timely consultation and treatment from a pediatrician and an endocrinologist.


Keywords: Idiopathic Hypergonadotropic Hypogonadism, Retained primary teeth, Microdontia, Hypodontia


How to cite this article:
Lele G S, Lakade L S. Telltale teeth: Idiopathic Hypergonadotropic Hypogonadism. J Indian Soc Pedod Prev Dent 2014;32:246-50

How to cite this URL:
Lele G S, Lakade L S. Telltale teeth: Idiopathic Hypergonadotropic Hypogonadism. J Indian Soc Pedod Prev Dent [serial online] 2014 [cited 2019 Jul 16];32:246-50. Available from: http://www.jisppd.com/text.asp?2014/32/3/246/135839



   Introduction Top


Hypogonadism is diminished functional activity of the gonads, i.e., the testes in males and ovaries in females. It is a relatively common endocrinological finding which may or may not be associated with certain syndromes. Primary or Hypergonadotropic Hypogonadism is associated with delayed puberty and is usually due to sex chromosome abnormalities. [1]

Clinical findings of endocrinological anomaly resulting in growth and mental subnormality, along with peculiar dental anomalies, as seen in the present case might be coincidental, or could represent a syndrome. A literature search for publications documenting the association of these specific traits yielded no results.

Dental anomalies involving alteration in number, size, and structure of teeth often present a challenge for the dentist. A major problem is to identify whether the anomaly is a transmitted trait or is associated with any craniofacial syndromes. The other challenge is appropriate clinical management of the dental anomalies.

The purpose of this paper is to present a case of a seventeen year old male with peculiar or atypical dentition which 'told the tale' and led to the diagnosis of underlying endocrinological problems about which the parents were totally unaware. The patient thus received not only oral rehabilitation, but also timely consultation and treatment from a pediatrician and an endocrinologist.


   Case Report Top


A seventeen year old male patient, who reported to the Department of Pedodontics for a routine dental check-up was presented with an unusual dentition. Dental history of delayed eruption of deciduous and permanent teeth was reported.

Medical history revealed that the patient was the youngest of three siblings born to parents with consanguineous marriage. It was a full-term, uneventful, normal delivery. No significant postnatal illness or medical history was reported. However, his psychomotor milestones were delayed, he showed subnormal intelligence, and had speech problems. Family history was noncontributory. The patient's parents and his older sisters appeared normal and did not present with any unusual tooth morphology.

On general examination, the boy appeared to be of short stature with central obesity and microcephaly [Figure 1] and [Figure 2]. Extra oral examination showed no obvious abnormality.
Figure 1: Short stature

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Figure 2: Microcephaly

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Intraoral examination revealed presence of thirtysix microdonts, indicating presence of supernumerary teeth [Figure 3]. The morphology and size of teeth was unusual, with no resemblance to any teeth [Figure 4] and [Figure 5]. Generalized attrition with slight mobility of mandibular anterior teeth was observed. There were no carious lesions and the oral mucosal surfaces were normal.
Figure 3: Anterior teeth

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Figure 4: Maxillary dentition

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Figure 5: Mandibular dentition

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Intra and extra oral radiographs were advised for identification of teeth. A panoramic radiograph [Figure 6] confirmed the unusual morphology and showed retained deciduous teeth with congenital absence of the permanent teeth in the maxillary arch, indicating hypodontia. A retained deciduous molar was seen in the maxillary right quadrant. The permanent molars appeared single rooted and maxillary molars were bulbous indicating taurodontism [Figure 7]. Hand-Wrist radiograph and Lateral cephalogram showed slight delay in growth pattern [Figure 8] and [Figure 9].
Figure 6: Panoramic radiograph

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Figure 7: Taurodontism

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Figure 8: Hand wrist radiograph

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Figure 9: Lateral cephalogram

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The unusual presentation of dentition, along with the patient's overall appearance and behavior, raised doubts about the possible presence of any yet undiagnosed underlying systemic problem. Therefore the patient was referred to a pediatrician and an endocrinologist for complete evaluation.

The pediatrician confirmed the findings of short stature, microcephaly, and central obesity. He also observed micropenis and lack of secondary sexual characteristics. The clinical examination and history were indicative of provisional diagnosis as variant of Klinefelter's syndrome,  Prader-Willi syndrome More Details, or Idiopathic Hypogonadism.

A routine blood examination and step wise hormonal assay revealed normal levels of Thyroid Stimulating Hormone (TSH): (2.64 mIU/ml) and free thyroxine (T4) (1.12 ng/ml), with increased levels of Follicle Stimulating Hormone (FSH): (25.47 mIU/ml) and Luteinizing Hormone (LH): (7.83 mIU/ml), and a decrease in Testosterone level (47 ng/dl).

To check for any underlying genetic cause, Karyotyping was advised and the interpretation showed a normal male karyotype, 46 XY.

Therefore, the final diagnosis recorded by the pediatrician and endocrinologist was of Idiopathic Hypergonadotropic Hypogonadism.


   Discussion Top


Hypogonadism is defined as "inadequate gonadal function, as manifested by deficiencies in gametogenesis and/or the secretion of gonadal hormones". [2]

Endocrinologists categorize Hypogonadism into primary and secondary types. In primary Hypogonadism (Hypergonadotropic Hypogonadism) the problem is in the testicles, the LH and/or FSH are usually elevated. In secondary Hypogonadism (Hypergonadotropic Hypogonadism), the problem is in the brain, and the LH and/or FSH levels are normal or low.

Hypergonadotropic Hypogonadism is characterized by hypogonadism due to an impaired response of the gonads to the gonadotropins, FSH and LH, and in turn a lack of sex steroid production and elevated gonadotropin levels, as an attempt at compensation by the body. It may be congenital or acquired, but in the majority of cases is of the former nature. [3],[4] The causes for congenital Hypergonadotropic Hypogonadism include the following. [3],[5],[6]

  • Chromosomal abnormalities (resulting in gonadal dysgenesis): Turner's syndrome (in females), Klinefelter's syndrome (in males), Swyer's syndrome, XX gonadal dysgenesis, and mosaicism.
  • Defects in the enzymes involved in the gonadal biosynthesis of the sex hormones 17 α-hydroxylase deficiency, 17,20-lyase deficiency, 17 β-hydroxysteroid dehydrogenase III deficiency, and lipoid congenital adrenal hyperplasia. Gonadotropin resistance (e. g., due to inactivating mutations in the gonadotropin receptors): Leydig cell hypoplasia (or insensitivity to LH) in males, FSH insensitivity in females, and LH and FSH resistance due to mutations in the GNAS gene (termed Pseudohypoparathyroidism type 1A).
  • Acquired Hypergonadotropic Hypogonadism due to damage to or dysfunction of the gonads could occur due to gonadal torsion, vanishing/anorchia, orchitis, premature ovarian failure, ovarian resistance syndrome, trauma, surgery, autoimmunity, chemotherapy, radiation, infections (e. g., sexually transmitted diseases), toxins (e. g., endocrine) and drugs (e. g., antiandrogens, opioids, alcohol). [3],[5],[6]


In the present case, the patient demonstrated some of the clinical manifestations of Hypergonadotropic Hypogonadism such as underdeveloped sex organs, lack of secondary sexual traits, high pitched voice, fat accumulation in the region of hips and abdomen and delayed skeletal development. [7] The endocrinological investigations showing high levels of FSH and LH, low levels of Testosterone along with delayed pubertal development and learning disabilities were indicative of Klinefelter's syndrome, which also includes taurodontism as seen in relation to maxillary molars. [8],[9] Even though the typical oral findings of viscous saliva and high caries incidence were not observed, differential diagnosis of Prader-Willi syndrome was also considered owing to classic features of short stature, central obesity, developmental delay and mild mental retardation. [10]

However, since his karyotype was normal, diagnosis of any of the syndromes was ruled out, and final diagnosis of Idiopathic Hypergonadotropic Hypogonadism was established.

As a general medical treatment, hormone replacement therapy was advised, and the patient was given Testosterone.

For the dental management, composite build-up followed by stainless steel crowns was done for posterior teeth to improve mastication [Figure 10] and [Figure 11]. Strip form crowns were provided for anterior teeth to improve esthetics [Figure 12]. The patient is under long term clinical follow up for dental needs assessment and revaluation.
Figure 10: Maxillary dentition post treatment

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Figure 11: Mandibular dentition post tretment

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Figure 12: Anterior teeth post treatment

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   Conclusion Top


The case report reiterates the importance of thorough clinical oral examination, which could lead to the diagnosis and, in turn, timely management of underlying, undetected medical conditions.

 
   References Top

1.Strachen MJ, Walker BR. Endocrine disease. In: Boon NA, Colledge NR, Walker BR, editors. Davidson's Principles and Practice of Medicine. 20 th ed. Elsevier Publication; 2006. p. 765.  Back to cited text no. 1
    
2.Stedman's Medical dictionary. 26 th ed. Baltimore: Williams and Wilkins; 1995. p. 836.  Back to cited text no. 2
    
3.Mulhall JP. Cancer and Sexual Health. Springer. p. 207-8. ISBN 978-1-60761-915-4. Available from: http://en.wikipedia.org/wiki/Hypergonadotropic_hypogonadism [Last accessed on 2011 Apr 22].  Back to cited text no. 3
    
4.Ramón P. Biology of Human reproduction. University Science Books. p. 363. ISBN 978-1-891389-12-2. Available from: http://en.wikipedia.org/wiki/Hypergonadotropic_hypogonadism [Last accessed on 2002 Jan 1].  Back to cited text no. 4
    
5.Runge MS, Cam P. Principles of molecular medicine. Humana Press. p. 463. ISBN 978-1-58829-202-5. Available from: http://en.wikipedia.org/wiki/Hypergonadotropic_hypogonadism [Last accessed on 20 Jun 2006].  Back to cited text no. 5
    
6.Jameson JL. Principles of Molecular Medicine. Humana Press. p. 601. ISBN 978-0-89603-529-4. Available from: http://en.wikipedia.org/wiki/Hypergonadotropic_hypogonadism [Last accessed on 1998].  Back to cited text no. 6
    
7.Rapaport R. Hypofunction of the testes. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson's textbook of Pediatrics. 17 th ed. Saunders; 2005. p. 1925.  Back to cited text no. 7
    
8.Visootak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006;1:42. Available from: http://www.biomedcentral.com/content/pdf/1750-1172-1-42.pdf [Last accessed on 2006].  Back to cited text no. 8
    
9.Tandon S, Nautiyal Y, Rao PL. Ch. 51. Common craniofacial syndromes in children. In: Tandon S, editor. Textbook of Pedodontics. 2 nd ed. Hyderabad: Paras Publishing; 2008, p. 695.  Back to cited text no. 9
    
10.Cassidy SB. Prader-Willi syndrome. J Med Genet 1997; 34:917-23. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051120/pdf/jmedgene00253-0037.pdf [Last accessed on 2006].  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12]



 

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    Abstract
   Introduction
   Case Report
   Discussion
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    References
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