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Congenital hypothyroidism and Cretinism: a drama to be avoided by a simple dosage (one case report)

Department of Pediatrics, CHU Mohammed VI of Oujda

M.Ech-chebab,M.Rkain,M.Azizi, Y.Sbia,A.Ghannam,A.ELouali , A.Babakhouya,, N.Benajiba

Introduction:

Congenital hypothyroidism (HC) is the most common congenital endocrinopathy, with an incidence of approximately 1: 3000 births. In the absence of treatment, HC causes cretinism marked by a delay or even cessation of psychomotor development and growth [1].We report the case of a 14-year-old adolescent with never treated congenital hypothyroidism who developed into severe cretinism.

The case report:

14 year old child from a 3rd degree consanguineous marriage with a macrosomia with ATCD with the concept of neonatal suffering and an untreated congenital hypothyroidism. Admitted for severe cretinism with delay in weight gain and psychomotor in which the examination finds: a conscious child, weight: 29 (-2DS), height: 129 cm (-4DS), dysharmonious dwarfism with a dysmorphic syndrome (hypertelorism, macroglossia, brachyskelia ) an intellectual delay (communication impossible) classification of Tanner G1P0.

The assessment finds: TSHus: 100.T4: 0.79, T3: 0.4. The child was put on levotyrox 4ug / kg / day and connected in consultation for follow-up.

The consent of the patient’s family was obtained during the performance of this work

Discussion:


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Congenital hypothyroidism affects approximately one in 3,000 newborns. Girls are twice as affected as boys [1-2]. This neonatal hypothyroidism can be transient, but most often permanent. It can be due to a malformation of the thyroid (80% of cases), to disorders in the synthesis of thyroid hormones.

Congenital hypothyroidism is the leading cause of preventable mental retardation [3]. It can be permanent or transient. Permanent congenital hypothyroidism is mainly caused by thyroid dysgenesis.


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In industrialized countries, it can be diagnosed from birth using mass screening methods. The severity is variable, overall more pronounced in affected girls.

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Many studies point to a genetic origin and there are no strong arguments in favor of an important role for environmental factors. Genetic factors have already been identified at several levels (mutations in TTF-1, TTF-2, PAX8 and the TSH receptor) [3-4].

The etiological diagnosis is based on scintigraphy, ultrasound and the dosage of circulating thyroglobulin. Currently, treatment in the first two weeks of life at a suitable dose allows the child to develop all his intellectual potential [4]. The evolution in the absence of treatment as in our case is responsible for cretinism which is unfortunately irreversible (fig 1.2.3).

Conclusion


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Congenital hypothyroidism is a diagnostic and therapeutic emergency. Early treatment should be started in time to avoid complications that can be morbid.Systematic screening at birth is unfortunately not yet practiced in our context and remains the only way to prevent irreversible complications like cretinism whose prognosis remains very severe

MOHAMMED ECHCHEBAB

ECH-CHEBAB MOHAMMED work in pediatrics department at the mohammed VI university hospital center in oujda, Morocco  

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