X-linked recessive Kallmann syndrome: A case report

Table 1 Pituitary and gonadal hormones

Project	Numerical value	Reference value (male)
Prol	9.15	4.1-18.5
GH	0.7	0.2-1.23
FSH	0.71	1.3-11.8
LH	0.46	2.8-6.8
E2	12.3	0-56
P	0.33	0
Test	118	210-1600

Prol: Prolactin; GH: Growth hormone; FSH: Follicle-stimulating hormone; LH: Luteinizing hormone; E2: Estradiol; P: Progesterone; Test: Testosterone.

Table 2 Luteinizing hormone-releasing hormone stimulation test

Index	0 min	25 min	45 min	90 min	180 min
LH	0.25	1.96	3.21	3.72	1.76
FSH	1.14	2.35	3.33	2.78	2.86

LH: Luteinizing hormone; FSH: Follicle-stimulating hormone.

Table 3 Patient’s genetic test results

Gene	Nucleotide variation	Amino acid variation	Functional change	Type of mutation	Genetic mode	Clinical significance	Related diseases
KAL-1-ex5	c612G>A	P.Trp204Ter	Nonsense	Hemizygous	XLD	Pathogenic	Kallmann
NM-000216			Mutation				Syndrome type 1

XLD: X-linked recessive inheritance.

Table 4 Patient’s parental genetic test results

Examination range	Test results	Test results
Known/suspected pathogenic site	Mother	Father
KAL-1-ex5c612G>A(p.Trp204Ter)	+	-

“+” represents present and “-” represents absent.