Isochromosome Mosaic Turner Syndrome: A Case Report

Mark Ramon Victor Llanes; May Uyking-Naranjo

doi:10.15605/jafes.034.02.15

Authors

Mark Ramon Victor Llanes Southern Philippines Medical Center, Davao City http://orcid.org/0000-0001-8384-9082
May Uyking-Naranjo Southern Philippines Medical Center, Davao City

DOI:

https://doi.org/10.15605/jafes.034.02.15

Keywords:

Turner Syndrome, isochromosome, primary amenorrhea, alopecia, hypergonadotropic hypogonadism, delayed puberty

Abstract

Turner syndrome (TS) with an isochromosome mosaic karyotype 45,X/46,X,i(X) (q10) is an unusual variant, with only an 8-9% prevalence among women with TS based on international studies and 15% of all TS in the Philippines. Clinical features are atypical and any case should be investigated to detect potential complications.

A 20-year-old female came in due to amenorrhea and alopecia. Physical examination revealed short stature, cubitus valgus and Tanner Stage 1 pubic hair and breast development. Transrectal ultrasound revealed absent ovaries and infantile uterus. Hormonal evaluation revealed hypergonadotropic hypogonadism. Bone aging was that of a 13-yearold for females with non-fusion of epiphyseal plates. Cytogenetic study revealed 45,X [37]/46, X, i (X) (q10)[13]. This is consistent with a variant Isochromosome Mosaic Turner Syndrome (IMTS).

She was screened for medical complications. Audiogram and two-dimensional echocardiography were unremarkable. She has dyslipidemia and was given a statin. She has subclinical hypothyroidism with positive test for anti-thyroglobulin antibody. Her intelligence quotient (IQ) was below average. She received conjugated estrogen and progesterone that patterned the hormonal changes in a normal menstrual cycle. On the third week of hormonal therapy, she developed breast mound and on the fourth week, she had her first menstrual period. Her alopecia spontaneously resolved.

The case is a variant of Turner Syndrome requiring supportive, medical and psychological care.

Downloads

Download data is not yet available.

Author Biography

Mark Ramon Victor Llanes, Southern Philippines Medical Center, Davao City

Third Year Resident

Department of Internal Medicine

References

Sybert V, McCauley E. Turner’s syndrome. N Eng J Med. 2004;351(12):1227-38. PMID: 15371580. https://doi.org/10.1056/NEJMra030360.

David-Padilla C, Cutiongco-de la Paz EM, Cadag NS, Salonga EAG, Chiong MAD. A review of the results of chromosomal analyses done at the National Institutes of Health from 1991 to 2007. Acta Med Philipp. 2009;43(1):4-6. Available from: http://apamedcentral.org/search.php

Lippe B. Turner syndrome. Endocrinol Metab Clin North Am.1991;20(1):121-52. https://www.ncbi.nlm.nih.gov/pubmed/2029883.

Elsheikh M, Dunger DB, Conway GS, Wass JA. Turner’s syndrome in adulthood. Endocrine Rev.2002; 23(1):120-40. https://www.ncbi.nlm.nih.gov/pubmed/11844747. https://doi.org/10.1210/edrv.23.1.0457.

Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554-62. https://www.ncbi.nlm.nih.gov/pubmed/16624884. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2082839. htps://doi.org/10.1136/adc.2006.098319.

Al Awan I, M K, Amir 1st, et al. Turner syndrome genotype and phenotype and their effect on presenting features and timing of diagnosis. Int J Health Sci (Qassim). 2014;8(2):195-202. https://www.ncbi.nlm.nih.gov/pubmed/25246887. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166992.

Akbaş E, Yazıcı FG, Durukan H, Topal H, Erdoğan NE. Cytogenetic and clinical evaluation of two cases that have 45,X/46,X,i(Xq) and 46,X,i(Xq) karyotype 45,X/46,X,i(Xq) ve 46,X,i(Xq). J Clin Exp Invest. 2014; 5(3):444-8. https://doi.org/10.5799/ahinjs.01.2014.03.0436.

Muntaj S, Ganale FA, Purva SV, Radhika S, Tilak P. Karyotypic variables in Turner syndrome: A case series. Int J Sci Study. 2015;3(4):171-5. https://doi.org/10.17354/ijss/2015/330. Available from:

http://www.ijss-sn.com/uploads/2/0/1/5/20153321/ijss_jul_cr03.pdf.

Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol. 2004:151(6):657–87. https://www.ncbi.nlm.nih.gov/pubmed/15588233. https://doi.org/10.1530/eje.0.1510657.

Haber HP, Ranke MB. Pelvic ultrasonography in Turner syndrome: Standards for uterine and ovarian volume. J Ultrasound Med. 1999;18(4):271-6. https://www.ncbi.nlm.nih.gov/pubmed/10206214. https://doi.org/10.7863/jum.1999.18.4.271.

Tebbe B, Golinick H, Müller R, Reupke HJ, Orfanos CE. Alopecia areata and diffuse hypotrichosis associated with Ullrich-Turner syndrome. Presentation of 4 patients. Hautarzt. 1993;44(10):647-52. https://www.ncbi.nlm.nih.gov/pubmed/8225974.

Naeraa RW, Gravholt CH, Hansen J, Nielsen J, Juul S. Mortality in Turner syndrome. In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a lifespan perspective: Research and clinical aspects. Amsterdam: Elsevier, 1995.

Miller MJ, Geffner ME, Lippe BM, et al. Echocardiography reveals a high incidence of bicuspid aortic valve in Turner syndrome. J Pediatr.1983;102(1):47–50. https://www.ncbi.nlm.nih.gov/pubmed/6848727. https://doi.org/10.1016/s0022-3476(83)80284-4.

Gøtzsche CO, Krag-Olsen B, Nielsen J, Sørensen KE, Kristensen BO. Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome. Arch Dis Child. 1994;71(5):433-6. https://www.ncbi.nlm.nih.gov/pubmed/7826114. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1030059. https://doi.org/10.1136/adc.71.5.433.

Ross JL, Feuillan P, Long LM, Kowal K, Kushner H, Cutler GB Jr. Lipid abnormalities in Turner syndrome. J Pediatr. 1995;126(2):242–5. https://www.ncbi.nlm.nih.gov/pubmed/7844670. https://doi.org/10.1016/s0022-3476(95)70551-1.

Sylvén L, Hagenfeldt K, Bröndum-Nielsen K, von-Schoultz B. Middleaged women with Turner’s syndrome. Medical status, hormonal treatment, and social life. Acta Endocrinol (Copenh). 1991;125(4):359–65. https://www.ncbi.nlm.nih.gov/pubmed/1957555. https://doi.org/10.1530/acta.0.1250359.

Radetti G, Mazzanti L, Paganini C, et al. Frequency, clinical and laboratory features of thyroiditis in girls with Turner’s syndrome. The Italian Study Group for Turner’s Syndrome. Acta Paediatr. 1995;84(8):909–12. https://www.ncbi.nlm.nih.gov/pubmed/7488816. https://doi.org/10.1111/j.1651-2227.1995.tb13791.x.

Elsheikh M, Wass JA, Conway GS. Autoimmune thyroid syndrome in women with Turner’s syndrome—the association with karyotype. Clin Endocrinol (Oxf). 2001;55(2):223–6. https://www.ncbi.nlm.nih.gov/pubmed/11531929. https://doi.org/10.1046/j.1365-2265.2001.01296.x.

Bilge I, Kayserili H, Emre S, et al. Frequency of renal malformations in Turner syndrome: Analysis of 82 Turkish children. Pediatr Nephrol. 2000;14(12):1111-4. https://www.ncbi.nlm.nih.gov/pubmed/11045397. https://doi.org/10.1007/s004670000315.

Sculerati N, Oddoux C, Clayton CM, Lim JW, Oster H. Hearing loss in Turner syndrome. Laryngoscope. 1996;106(8):992–7. https://www.ncbi.nlm.nih.gov/pubmed/8699915. https://doi.org/10.1097/00005537-199608000-00015.

Bondy CA. New issues in the diagnosis and management of Turner syndrome. Rev Endocr Metab Disord. 2005;6(4):269-80. https://www.ncbi.nlm.nih.gov/pubmed/16311945. https://doi.org/10.1007/s11154-005-6185-z.

Turner Syndrome. In Gardner D, Shoback D, eds. Greenspan’s basic and clinical endocrinology (Lange Medical Books),8th ed. Philadelphia: McGraw-Hill Medical, 2007.

Gomez-Lobo, V, Amies Oelschlager AM; North American Society for Pediatric and Adolescent Gynecology. Disorders of sexual development in adult women. Obstet Gynecol. 2016;128(5):1162-73. https://www.ncbi.nlm.nih.gov/pubmed/27741188. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119649. https://doi.org/10.1097/AOG.0000000000001672.