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ABSTRACT Objective: Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectrum of 11 causative genes in Turkish patients with CH. Materials and methods: This study included 47 patients [21 girls (44.6%) and 26 boys (55.4%)] from 45 families. To identify the genetic etiology, we screened 11 candidate genes associated with CH using next-generation sequencing. To confirm and detect the status of the specific familial variant in relatives, Sanger sequencing was also performed. Results: We identified 12 possible pathogenic variants in GHRHR, GH1, GLI2, PROP-1, POU1F1, and LHX4 in 11 patients (23.4%), of which six were novel variants: two in GHRHR, two in POU1F1, one in GLI2, and one in LHX4. In all patients, these variants were most frequently found in GLI2, followed by PROP-1 and GHRHR. Conclusion: Genetic causes were determined in only 23.4% of all patients with CH and 63% of molecularly diagnosed patients (7/11) from consanguineous families. Despite advances in genetics, we were unable to identify the genetic etiology of most patients with CH, suggesting the effect of unknown genes or environmental factors. More genetic studies are necessary to understand the etiology of CH.
RESUMO
La parálisis de Bell es la causa más común de parálisis del nervio facial unilateral en la infancia. Aunque el diagnóstico depende de la exclusión de otras causas menos comunes, como infecciosas, traumáticas, asociada a tumores o a hipertensión, los pediatras tienden a diagnosticar la parálisis idiopática de Bell siempre que un niño presenta parálisis facial. En este informe se presenta una niña de ocho años con parálisis facial recurrente y alternante como primer síntoma de hipertensión arterial sistémica. Recibió tratamiento con esteroides sin previa medición de la tensión arterial, lo cual pudo agravar su cuadro. Debe tenerse en cuenta esta asociación y medir siempre la tensión arterial antes de considerar la terapia con esteroides para la parálisis de Bell. Deben tenerse en cuenta las causas menos comunes de parálisis facial adquirida, especialmente cuando se presentan episodios recurrentes y alternantes.
Bell's palsy is the most common cause of acquired unilateral facial nerve palsy in childhood. Although the diagnosis depends on the exclusion of less common causes such as infectious, traumatic, malignancy associated and hypertension associated etiologies, pediatricians tend to diagnose idiopatic Bell's palsy whenever a child admits with acquired facial weakness. In this report, we present an eight year old girl, presenting with recurrent and alternant facial palsy as the frst symptom of systemic hypertension. She received steroid treatment without measuring blood pressure and this could worsen hypertension. Clinicians should be aware of this association and not neglect to measure the blood pressure before considering steroid therapy for Bell's palsy. In addition, the less common causes of acquired facial palsy should be kept in mind, especially when recurrent and alternant courses occur.