Farlane RRÁM, Oropesa OY, Seara MM

Language: Spanish
References: 10
Page: 917-923
PDF size: 352.40 Kb.

ABSTRACT

Congenital Hypothyroidism is the deficiency of Thyroids Hormones at birth, with a global frequency of approximately 1: 4000; in Cuba it is less than 1: 4500. Female predominance is an interesting feature. A newborn baby girl who was born at Vladimir Lenin Hospital, Holguín, was referred to a pediatric endocrine evaluation as suspicious case of congenital adrenal hyperplasia (CAH), because the physical exam showed an evident clitoral hypertrophy. The serum concentration of 17-OH-progesterone was normal, nevertheless when baby girl was six days old underwent a neonatal screening by Municipal Screening Center of Tacajó and the results showed that TSH concentration measured in dry blood on filter paper was in the highest limit for this test. The case was confirmed in the Provincial Pediatric Hospital by serum TSH determination, whose concentration was highest for this test too. The findings showed that clitoris hypertrophy was associated to congenital hypothyroidism. The girl is undergoing medical treatment with levothyroxine at present, and she is recovering satisfactorily.

REFERENCES

1. Castilla Peón MF. Hipotiroidismo Congénito. Boletín Médico del Hospital Infantil de México. 2015 [citado 4 feb2016]; 72(2):140-148. Disponible en: http://www.sciencedirect.com/science/article/pii/S166511461500060X

2. Suárez García N, Izquierdo Meralla A, Licourt Otero D, Hernández Gómez J, Fernández Álvarez D. Hipotiroidismo congénito y diafragma luminal no fenestrado. Rara asociación. Rev Cienc Méd.2014 [citado 4 feb 2016]; 18(1). Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1561-31942014000100016

3. Navarro Despaigne D. Epidemiología de las enfermedades del tiroides en Cuba. Rev Cubana Endocrinol. 2004 [citado 4 feb 2016]; 15(1). Disponible en: http://scielo.sld.cu/scielo.php?pid=S1561-29532004000100004&script=sci_arttext&tlng=pt

4. Reynoso Rodríguez ME, Monter García MA, Sánchez Flores I. Hipotiroidismo congénito y sus manifestaciones bucales. Rev Odont Mexicana. 2014 [citado 4 feb 2016]; 18(2):132-137. Disponible en: http://www.sciencedirect.com/science/article/pii/S1870199X14720634

5. Cangul H, Aycan Z, Kendall M, Bas VN, Saglam Y, Barrett TG, et al. A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism. J Pediatric Endocrinol Metab. 2014 [citado 4 feb 2016]; 27(3-4):323-327. Disponible en: http://www.degruyter.com/view/j/jpem.2014.27.issue-3-4/jpem-2013-0314/jpem-2013-0314.xml

6. Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet. 2005 [citado el 4 feb 2016]; 42(5). Disponible en: http://jmg.bmj.com/content/42/5/379.short

7. Armaza Céspedes A, Medina Bustos M, Ugarte Cuba T, Gómez Paz X, Condori I, Castellano A, et al. Detección serológica directa de hipotiroidismo congénito vs método del papel de filtro. Gac Med Boliviana. 2015 [citado 4 feb 2016]; 38(1). Disponible en: http://www.scielo.org.bo/scielo.php?script=sci_arttext&pid=S1012-29662015000100003

8. Dolzan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Votava F, et al. Mutational spectrum of steroid 21-hydroxylase and the genotype-Phenotype association in Middle European patients with congenital adrenal hyperplasia. Eur J Endocrinol.2005 [citado 26 nov 2016]; 153(1):99-106. Disponible en: http://www.eje-online.org/content/153/1/99.short

9. Ramayya MV, Ruvalcaba RH, Kelley VC. Hypothyroidism and Apparent 'Ambiguous Genitalia. Am J Dis Child.1982 [citado 26 nov 2016]; 136(5):464-465. Disponible en: http://jamanetwork.com/journals/jamapediatrics/article-abstract/510462

10. Choi JW, Cheong WS, Yi IK. Adrenogenital syndrome combined with congenital hypothyroidism. Korean J Pediatr. 1994 [citado 26 nov 2016]; 37(11):1607-1609. Disponible en: http://www.kjp.or.kr/journal/view.php?number=1994371116