Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?

ÖZSU CAVGA E., Mutlu R. G. Y., Isik O., ÇİZMECİOĞLU JONES F. M., Hatun S.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.6, sa.4, ss.266-268, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 4
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4274/jcrpe.1355
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.266-268
  • Anahtar Kelimeler: Intrauterine growth retardation, adrenal insufficiency, hypogonadism, GROWTH
  • Ankara Üniversitesi Adresli: Hayır

Özet

IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. Cases generally present with life-threatening adrenal insufficiency in the neonatal period. Herein, we describe a patient with pronounced IUGR diagnosed with severe hyperpigmentation and adrenal insufficiency in the neonatal term in order to attract the attention to this rare entity.