Abstract

FARLANE ROJAS, Roberto Ángel Mac; OROPESA ORO, Yuriko  and  SEARA MARTINEZ, Mariyanis. First Case of Congenital Hypothyroidism Diagnosed by the Municipal Screening Center of Tacajó. ccm [online]. 2017, vol.21, n.3, pp.917-923. ISSN 1560-4381.

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.

Keywords : Congenital hypothyroidism; clitoral hypertrophy; thyroid stimulating hormone.

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