Characteristics of 26 boys with anorchia.

<p>ND, not determined; R, right; L, left; Inhibin B undetectable in cases 1, 2, 6, 7, 20 and 23.</p><p>The normal range values for FSH are 2–9 IU/L and for LH 1–5 IU/L.</p

Distribution of the plasma inhibin B concentrations in 27 boys with isolated hypogonadotropic hypogonadism.

<p>Solid lines correspond to the median and broken lines to the 5^th and 95^th percentiles in infants <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0077827#pone.0077827-Andersson1" target="_blank">[14]</a> and at each stage of puberty <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0077827#pone.0077827-Andersson2" target="_blank">[15]</a>. Numbers (except 42) correspond to low concentrations (<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0077827#pone-0077827-t001" target="_blank">Tables 1</a> and <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0077827#pone-0077827-t002" target="_blank">2</a>): KS in cases 13,41 and 46, CHARGE syndrome in case 27, <i>FGFR1</i> mutation in cases 14 and 36 and other HH in the others.</p

Characteristics of the boys with HH.

<p>Anosmia in cases 2,3,13,29,32.</p><p>L: left R: right; 1 yes, 0 no;IUGR intrauterin growth retardation.</p

Distribution of the plasma AMH concentrations in 27 boys with isolated hypogonadotropic hypogonadism.

<p>Broken lines to the 5^th and 95^th percentiles <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0077827#pone.0077827-Rey1" target="_blank">[16]</a>. Numbers correspond to low concentrations (<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0077827#pone-0077827-t001" target="_blank">Tables 1</a> and <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0077827#pone-0077827-t002" target="_blank">2</a>): KS in cases 13 and 46, CHARGE syndrome in case 27, <i>FGFR1</i> mutation in cases 14 and 36 and other HH in the others.</p

Genetic analyses.

<p>Case 33: microduplication of chromosome 15, not found in the parents.</p

Hypothalamic-pituitary-testicular function of 8 boys with DAX-1 mutations.

<p>Normal range: Inhibin B, pg/mL, 12 mo, 94–383, 24 mo, 71–204, 5–10 yr, <20–258, adult, 80–270; AMH, pmol/L, 10d-1 yr, 390–570, 1 yr–4 yr, 360–650, 4 yr–7 yr, 320–560, 7 yr–9 yr, 240–430, adult, 22–38.</p><p>Unilateral cryptorchidism in cases 2 and 3.</p

Clinical and biological data of 8 boys with DAX-1 mutations.

<p>Normal Range: Renin, 3–16 pg/mL; Plasma Renin Activity, 0.2–2.80 ng/mL/h and 0.8–8.9 ng/mL/h during the first year of life; Aldosterone: 42–201 pg/mL.</p><p>Case 1 has maternal uncle with DAX1 mutation and azoospermia. Case 7 has maternal cousin with DAX1 mutation.</p><p>Cases 2 and 3, and 5 and 6 are brothers.</p><p>Intra-uterin growth retardation in cases 4 and 7.</p

Hardy-Weinberg distribution for <i>MTHFR</i> 1298 genotypes in infertile and control populations.

<p>Hardy-Weinberg distribution for <i>MTHFR</i> 1298 genotypes in infertile and control populations.</p

Summary of published associations between the <i>MTHFR</i> C665T variant and unexplained male infertility.

<p>Summary of published associations between the <i>MTHFR</i> C665T variant and unexplained male infertility.</p

Hardy-Weinberg distribution for <i>MTHFR</i> 1298 genotypes in control population.

<p>Hardy-Weinberg distribution for <i>MTHFR</i> 1298 genotypes in control population.</p