Genetics of Isolated Hypogonadotropic Hypogonadism: Role of GnRH Receptor and Other Genes

Figure 2

Kallmann’s Syndrome. Synkinesia in a patient with KAL1 mutation (c.120_121insC; 122_127del, p.Ala41Glyfs43). When closing a book with one hand (arrow), typical involuntary mirror movement (synkinesia) of the other hand is observed (dotted arrow). This 15-year-old boy presented because of absent puberty. There was orchidopexy at the age of 2 years, disturbed spatial orientation, retarded fine-motor developmental milestones, and anosmia. Tanner P1, G1. LH <0.1 U/L, FSH 0.4 U/L, testosterone 0.2 ng/mL. During GnRH stimulation test, LH 0.5 U/L, FSH 2.1 U/L after 60 minutes. Cranial MRI revealed agenesis of olfactory bulbs and a normal-sized pituitary gland.