Información adicional

• Num_publicacion 78(1-2)
• Resumen_ingles

  Introduction: The steroidogenesis factor 1 (SF-1), encoded by the NR5A1 gene, plays a fundamental role in the development of the adrenal gland, reproductive function, spleen and medial hypothalamus. Its alteration, mainly due to mutations in heterozygosis, is related to disorders of sex development. Although it can affect both sexes, mutations have been described mainly in males with hypospadias, micropenis, cryptorchidism, infertility and/or anorchia.

  Case report: A 13-year-old patient with hypospadias and micropenis in whom p.Ser203Ile change was identified in heterozygosis in the NR5A1 gene, which has not been previously described in the literature.

  Discussion: The clinical spectrum of the mutation of the SF-1 gene is heterogeneous, being able to associate, in the case of male patients, alterations in the development and testicular descent, in the steroidogenesis, in the adrenal function and splenic anomalies. In our patient, the anomalies consist of micropenis and hypospadias but the gonads are placed in the scrotal position, the testosterone values are adequate for pubertal development, the values of ACTH and cortisol are within normal and the abdominal ultrasound does not show splenic anomalies. This type of genetic alterations should be taken into account in males affected by micropenis, hypospadias and cryptorchidism. In the case of confirmation, a screening and monitoring of the rest of the alterations that can be associated should be done.

• Palabras_clave_ingles NR5A1 SF 1 micropenis hypospadias mutation.
• Todos_autores M.E. Álvaro ¹, C. de Mingo ¹, F. Moreno ¹, R. Gastón¹, S. León¹, T. Jaijo²
• autores listados M.E. Álvaro, C. de Mingo, F. Moreno, R. Gastón, S. León, T. Jaijo
• Correspondecia

  M.E. Álvaro. Endocrinología Pediátrica. Hospital Universitari i Politècnic La Fe. Avda. Fernando Abril Martorell, 106. 46026 Valencia.
  Correo electrónico: eleal2002@gmail.com

• Titulo_ingles Micropenis and distal hypospadias due to a pathogenic variant in NR5A1 not previously reported in the literature
• Centros_trabajo ¹Endocrinología Pediátrica. ²Unidad de Genética. Hospital Universitari i Politècnic La Fe. Valencia
• Publicado en Acta Pediatr Esp. 2020; 78(1-2): e87-e90
• copyright ©2020 Ediciones Mayo, S.A.
• Tipo de Artículo Clínico (Microdatos) Case Reports