Delayed Adrenarche May Be an Additional Feature of IGSF1 Deficiency Syndrome.

Delayed Adrenarche May Be an Additional Feature of IGSF1 Deficiency Syndrome. J Clin Res Pediatr Endocrinol. 2015 Dec 18; Authors: Hulle SV, Craen M, Callewaert B, Sjoerd J, Oostdijk W, Losekoot M, Wit JM, Turgeon MO, Bernard D, Schepper J Abstract Immunoglobulin superfamily member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases hypoprolactinemia and/or transient growth hormone (GH) deficiency. PATIENT: A male patient had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, TSH and PRL deficiency. His GH deficiency proved transient upon stopping GH at 19 years old, but deficiencies of TSH and PRL persisted and he had developed macro-orchidism since the end of puberty. Brain MRI and PROP1 and POU1F1 sequencing were normal. A disharmonious puberty (delayed genital and pubic hair development, bone maturation, and pubertal growth spurt, despite normal testicular growth) was observed as well as a delayed adrenarche, as reflected by very low DHEAS and delayed pubarche. Direct sequencing of the IGSF1 gene revealed a novel hemizygous mutation, c.3127T>C, p.Cys1043Arg. Pathogenicity of the mutation was demonstrated in vitro. Male children with an idiopathic combined GH, PRL and TSH deficiency, showing persistent central hypothyroidism but transient GH deficiency upon retesting at adult hei...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research