1. Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals 
Lawrence C Layman, M.D., Paul G McDonough, M.D., David P Cohen, M.D., Mary Maddox, Sandra P.T Tho, M.D., Richard H Reindollar, M.D. 
Fertility and Sterility 
Volume 75, Issue 6, Pages (June 2001)
DOI: /S (01)

2. FIGURE 1
The pedigree of a family with idiopathic hypogonadotropic hypogonadism. Dark and light shading indicate heterozygosity for each of the GnRH receptor gene mutations. The hatched symbol (sibling II8) indicates delayed puberty of uncertain etiology, and the shaded quarter in this symbol indicates Down syndrome with a karyotype of 46,XX,21,+t(21q21q). The “railroad track” figure represents red–green color blindness. r21 = ring 21 chromosome.
Layman. Clinical effects of GnRHR gene mutations. Fertil Steril 2001.
Fertility and Sterility  , DOI: ( /S (01) )

3. FIGURE 2
Responses of LH to GnRH stimulation in four family members with idiopathic hypogonadotropic hypogonadism. Initial LH responses and those obtained on repeated testing 24 hours later (in parentheses) were as follows: proband II2: 0 minutes, 1 (1); 15 minutes, 3.7 (5.7); 30 minutes, 3.7 (6.8); 45 minutes, 3.6 (6.2); 60 minutes, 4.5 (5.2); 90 minutes, 3.1 (5.4); 120 minutes, 3 (4.7); 180 minutes, 2.5 (2.8). Sibling II7: 0 minutes, 2 (2.1); 15 minutes, 10.5 (16); 30 minutes, 11.5 (17); 45 minutes, 12.2 (17); 60 minutes, 8.8 (14.3); 90 minutes, 7.2 (10.8); 120 minutes, 7 (9.2); 180 minutes, 5.2 (7). All values expressed as mIU/mL.
Layman. Clinical effects of GnRHR gene mutations. Fertil Steril 2001.
Fertility and Sterility  , DOI: ( /S (01) )

4. FIGURE 3
Responses of FSH to GnRH stimulation in four family members with idiopathic hypogonadotropic hypogonadism. Initial FSH responses and those obtained on repeated testing 24 hours later (in parentheses) were as follows: proband II2: 0 minutes, 1.7 (1.6); 15 minutes, 1.7 (3); 30 minutes, 2.3 (4); 45 minutes, 2.4 (4.5); 60 minutes, 2 (4.5); 90 minutes, 1.5 (4.9); 120 minutes, 2.2 (4.8); 180 minutes, 2.1 (4.8). Sibling II7: 0 minutes, 2.3 (3.1); 15 minutes, 3.3 (4.6); 30 minutes, 3.5 (5.8); 45 minutes, 3 (6); 60 minutes, 4.5 (6.5); 90 minutes, 4.7 (6.2); 120 minutes, 4.6 (5.7); 180 minutes, 4.5 (5.8).
Layman. Clinical effects of GnRHR gene mutations. Fertil Steril 2001.
Fertility and Sterility  , DOI: ( /S (01) )

5. FIGURE 4
Ovarian tumors removed from a patient with idiopathic hypogonadotropic hypogonadism and compound heterozygous mutations for the GnRH receptor. Shown on the left is the serous portion of the neoplasm, demonstrating calcifications (dark-shaded regions) and cuboidal epithelium; in the middle, the mucinous portion of the tumor with columnar epithelium is shown; and on the right, primordial follicles are shown.
Layman. Clinical effects of GnRHR gene mutations. Fertil Steril 2001.
Fertility and Sterility  , DOI: ( /S (01) )