Presentation of central precocious puberty in two patients with Tay-Sachs disease

Acar S., ARSLAN N., Paketci A., Okur T. D., DEMİR K., BÖBER E., ...Daha Fazla

HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, cilt.17, sa.3, ss.415-418, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 17 Sayı: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1007/s42000-018-0043-3
  • Dergi Adı: HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.415-418
  • Anahtar Kelimeler: Tay-Sachs, Precocious puberty, Children, Gonadotropin, GnRH, ENDOCRINE, CHILDREN
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Tay-Sachs disease is an autosomal recessive type of lysosomal storage disorder. The disease is very rare in Turkey, with an incidence of 0.54/100,000. The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, deafness, blindness, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system. To date, only one case indicating the association between Tay-Sachs disease and central precocious puberty has been reported. Although the mechanism of this association is not clear, it is thought to be due to ganglioside accumulation in the central nervous system or the inhibition of the hypothalamic inhibiting pathway. Herein, we report two patients with genetically proven Tay-Sachs disease who developed central precocious puberty during follow-up. Pubertal development in patients affected by Tay-Sachs disease should be carefully assessed.