Telltale teeth: Idiopathic Hypergonadotropic

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Case Report

Telltale teeth: Idiopathic Hypergonadotropic Hypogonadism Lele G. S., Lakade L. S.1 Professor, Pedodontics and Preventive Dentistry, Sinhgad Dental College and Hospital, Pune, 1Lecturer, Pedodontics and Preventive Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Pune, Maharashtra, India

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

Introduction 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

Address for correspondence: Dr. Lele Gauri, Sinhgad Dental College and Hospital, Vadgaon Budruk, Pune - 411 041, Maharashtra, India. E-mail: [email protected] Access this article online Quick response code

Website: www.jisppd.com DOI: 10.4103/0970-4388.135839 PMID: ******

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 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.

Journal of Indian Society of Pedodontics and Preventive Dentistry | Jul-Sep 2014 | Vol 32| Issue 3 |

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Lele and Lakade: Idiopathic hypergonadotropic hypogonadism

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.

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 [Figures 8 and 9].

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

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.

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 [Figures 4 and 5]. Generalized attrition with slight mobility of mandibular anterior teeth was observed. There were no carious lesions and the oral mucosal surfaces were normal.

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, or Idiopathic Hypogonadism.

Intra and extra oral radiographs were advised for identification of teeth. A panoramic radiograph [Figure 6] confirmed the unusual morphology and

Figure 2: Microcephaly

Figure 1: Short stature

Figure 3: Anterior teeth

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Figure 4: Maxillary dentition




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 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).

Figure 5: Mandibular dentition

Figure 6: Panoramic radiograph

Figure 7: Taurodontism

Figure 8: Hand wrist radiograph


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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]

also considered owing to classic features of short stature, central obesity, developmental delay and mild mental retardation.[10]

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

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

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

For the dental management, composite build-up followed by stainless steel crowns was done for posterior teeth to improve mastication [Figures 10 and 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.

Conclusion The case report reiterates the importance of thorough clinical oral examination, which could lead to the

Figure 9: Lateral cephalogram Figure 10: Maxillary dentition post treatment

Figure 11: Mandibular dentition post tretment

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Figure 12: Anterior teeth post treatment




diagnosis and, in turn, timely management of underlying, undetected medical conditions.

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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]. 7. Rapaport R. Hypofunction of the testes. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson’s textbook of Pediatrics. 17th ed. Saunders; 2005. p. 1925. 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]. 9. Tandon S, Nautiyal Y, Rao PL. Ch. 51. Common craniofacial syndromes in children. In: Tandon S, editor. Textbook of Pedodontics. 2nd ed. Hyderabad: Paras Publishing; 2008, p. 695. 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]. How to cite this article: Lele GS, Lakade LS. Telltale teeth: Idiopathic Hypergonadotropic Hypogonadism. J Indian Soc Pedod Prev Dent 2014;32:246-50. Source of Support: Nil, Conflict of Interest: None declared.


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