Nusrat Sultana

AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE 1: A RARE CASE REPORT AND REVIEW OF THE LITERATURE

ABSTRACT Objective: The objective of this article is to present a case report of autoimmune polyendocrine syndrome type 1 (APS-1) diagnosed at a tertiary level hospital. Methods: This report summarizes the clinical presentations, laboratory values, treatments, and follow-up of a patient with APS-1. The diagnosis of APS-1 was based on clinical features and laboratory criteria. Results: The study patient with APS-1 was a 9-year-old girl that presented with recurrent seizure as a consequence of hypocalcemia due to primary hypoparathyroidism; an important component of this syndrome. A computerized tomography scan showed diffuse calcification of both basal ganglia and subcortical structures of the brain. Biochemical study showed features of primary hypothyroidism (free thyroxine = 0.31 ng/dL, free triiodothyronine = 1.0 pg/mL, thyroid-stimulating hormone >150 μIU/mL), primary hypoparathyroidism (serum calcium = 6.2 mg/dL, serum magnesium = 1.8 mg/dL, serum inorganic phosphate = 7.9 mg/dL, serum parathyroid hor...

Laron Syndrome: Siblings with Extreme Short Stature and Very High Growth Hormone

Primary growth hormone resistance or growth hormone insensitivity syndrome (GHIS), also known as Laron syndrome, is a hereditary disease caused by deletions or different types of mutations in the growth hormone receptor gene or by post-receptor defects. This disorder is characterized by a clinical appearance attributable to severe growth hormone deficiency with high levels of circulating growth hormone in contrast to low serum insulin-like growth factor-1 (IGF-1) and low serum insulin-like growth factor binding protein (IGFBP-3)values. It is an autosomal recessive disorder and to date, more than 70 unique growth hormone receptor (GHR) mutations have been identified in more than 250 GHIS patients. We report the case of an 8-year-old boy and his 12-year-old sister born to first cousin parent that presented with severe short stature who had the classic feature of GH deficiency. Investigations revealed high plasma GH levels in both the cases. Subsequently, IGF-1 and IGFBP-3 assay were done and the levels were found to be very low. These reports along with elevated GH level in the context of typical picture of GH deficiency confirmed the diagnosis of GHIS. Genetic testing could not be done because of unavailability in our context. Regrettably specific therapy in the form of recombinant IGF-1 could not be offered as it is not commercially available in our country.