Seckel-like syndrome: A patient with precocious puberty associated with nonclassical congenital adrenal hypersplasia


Adiyaman P., Berberoǧlu M., Aycan Z., EVLİYAOĞLU S. O. , Öcal G.

Journal of Pediatric Endocrinology and Metabolism, vol.17, no.1, pp.105-110, 2004 (Journal Indexed in SCI Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 17 Issue: 1
  • Publication Date: 2004
  • Title of Journal : Journal of Pediatric Endocrinology and Metabolism
  • Page Numbers: pp.105-110

Abstract

Seckel syndrome is a rare, recessively inherited disorder of severe growth retardation with low birth weight and distinct craniofacial, orodental and skeletal anomalies. In addition to these characteristics, some cardiovascular, hematopoietic, endocrine and central nervous system abnormalities have also been described. We report a patient with Seckel-like syndrome who has precocious puberty associated with non-classical congenital adrenal hyperplasia (NCCAH). She was admitted to our clinic three times. She was diagnosed as having Seckel-like syndrome and premature thelarche at the age of 8.9 years. At 10.9 years old she was admitted to our clinic with pubic hair and cliteromegaly. Hormonal findings revealed NCCAH and hydrocortisone therapy was offered but the patient was non-compliant. At 13.6 years she had acanthosis nigricans as an additional clinical finding and her pubertal stage was 4. She had irregular menses. On hormonal evaluation she had euglycemic hyperinsulinism accompanying mild hypertriglyceridemia and functional ovarian hyperandrogenism. Premature pubarche, hyperinsulinism, dyslipidemia, and hyperandrogenism, and some combinations of these, can be associated with reduced fetal growth. This is the first report of hyperinsulinism, and probably NCCAH, in association with Seckel syndrome. © Freund Publishing House Ltd., London.