Variant of turner syndrome with odontogenic myxoma.
- Author:
Rowena E EJERCITO-DE JESUS
- Publication Type:Case report
- Keywords:
Turner SyndromeOdontogenic MyxomaImpaired Glucose Tolerance
- MeSH:
Turner Syndrome;
Myxoma
- From:
Philippine Journal of Internal Medicine
2008;46(2):75-82
- CountryPhilippines
- Language:English
-
Abstract:
OBJECTIVE: To describe a case of a variant Turner syndrome with odontogenic myxoma.ClLINICAL PRESENTATION: This is the case of a 19 year old female with primary amenorrhea and short stature presents with left mandibular mass. Birth history is unremarkable. During adolescent years, patient notes no growth spurt or development of secondary sexual characteristics, including menarche. Mental development remains at par. At age 17 years, a left mandibular mass develops. Incision biopsy reveals odontogenic myxoma.PHYSICAL FINDINGS: Her height is 134 cm, weight is 32.2 kg and BMI is 18kg/m2. Upper to lower segment ratio is 1.13. She has prominent symmetrical and rotated ears, multiple pigmented nevi on her forehead and bilaterally shortened 4th metatersals. There is a 6x6 cm hard fixed nontender left mandibular mass with crowding of her lower teeth to the right. Breasts are Tanner stage 2 and pubic hair is Tanner stage 1. Axillary hair is absent. Her genitalia are phenotypically female. Speculum exam reveals a presence of hymen with opening.WORK UP: Pelvic and transvaginal ultrasound shows an infantile uterus with nonvisualizing adnexae. LH and FSH are postmenopausal levels. She has impaired glucose tolerance. Bone aging shows delayed skeletal maturity with incomplete ossification of the epiphyseal plates, incompatible with her chronologic age. Karyotype reveals 46,X,i(X)(qlO), an isochromosome of the X chromosome, a variant of Turner syndrome.Diagnosis: Variant of Turner Syndrome Impaired Glucose Tolerance Odontogenic myxoma, left mandibleTREATMENT AND OUTCOME: Patient underwent excision of left mandibular mass with bone graft from the left clavicle. Postoperative course was unremarkable. Final histopathology was odontogenic myxoma. Patient is desirous of increasing height and development of secondary sexual characteristics. She has been started on recombinant human growth hormone therapy. Estrogen therapy was delayed to maximize growth in height.RECOMMENDATIONS: Work up for patients with variant Turner syndrome is similar to that for the classic type since they may present with similar abnormalities.
