Fig. 1.

KISS1R mutation underlying normosmic congenital hypogonadotropic hypogonadism with reduced cortisol and absence of GH responses to an insulin-induced hypoglycemia test. a Pedigree of the studied family. The generations within the family are indicated by Roman numerals. Squares and circles represent male and female respectively. Normal individuals are shown as clear symbol, whereas the affected individuals are shown as filled (red) symbol. Green arrows indicate available DNA members. b Validation of the c.1195T>C mutation by Sanger sequencing. Results of automatic DNA KISS1R sequencing covering the c.1195T>C homozygous mutation in the propositus (V.1, V.2, and V.4), compared to unaffected (IV.8, IV.9, V.3, V.5) family members and control subject are presented. Mutated position on the chromatographs is depicted with an arrow. Amino acid substitution is indicated above each sequence. A genetic counseling for carrier members (V.3 and V.5) is mandatory