Dyshormonogenesis seems to be more frequent in a group of Cameroonian children with congenital hypothyroidism

Abstract

Congenital hypothyroidism is a main congenital endocrine disorder, affecting 1 in 4000 births. It is not well described in sub-Saharan countries, and to draw attention to that issue, we decided to describe affected pediatric patients. We retrospectively analyzed the records of eight patients over a period of 6 years. We analyzed clinical sings of hypothyroidism and psychomotor development; hormonal assays and thyroid ultrasound were performed. We included four boys and four girls aged from 3 to 84 months at diagnosis with a median thyroid-stimulating hormone (TSH) level of 156.5 mUI/L. All except one present with a moderate psychomotor delay. Other clinical signs were classical for hypothyroidism. Thyroid ultrasound performed showed a goiter in half of patients, a normal gland in three of them and a hypoplasic gland in the last one, consonant with dyshormonogenesis. We therefore concluded that dyshormonogenesis seems to be more frequent in our context, and this raised the issue of neonatal screening of hypothyroidism in Africa.

Cardiac Malformations in Congenital Hypothyroidism: A Case Report

“…This is the first description of this association in Sub Saharan populations. As previously described, all patients had dsyhormonogenesis and the diagnosis was late, in absence of neonatal screening [4].…”

“…Congenital hypothyroidism with a prevalence of 1/4000 new born is the leading cause of preventable mental retardation worldwide [2] [3]. Birth defects are more frequent in patients with hypothyroidism compare to general populations, found in about 37.5% of cases [4]- [9]. Cardiac malformations are found in approximately 10% to 18.5% of patients depending of authors [8] [9].…”

“…In absence of neonatal screening in Sub Saharan Africa, data on the disease are scarce. However, thyroid dyshormonogenesis seems to be the most frequent pattern found in some African countries [4]. The disease is associated with other malformations compared to general population through complex genetic pathway [5].…”

Hypothyroïdie congénitale à Dakar: à propos de 28 cas

“…Par contre en Afrique, les troubles de l’hormonosynthèse semblent dominer les causes. Ainsi, elles étaient responsables de 66,7% des causes au Sénégal [ 4 ], de 48% des causes en Tunisie [ 5 ] et de 7cas sur 8 au Cameroun [ 10 ]. Ceci est probablement lié à la fréquence des unions consanguines, les troubles de l’hormonosynthèse étant liés à des maladies génétiques à transmission autosomique récessive.…”