PMC6815991_01
Family pedigree of the reported family: black forms indicate affected members. Circles represent female family members and squares indicate male family members. Roman numerals indicate generations and Arabic numbers indicate individuals in each generation. NL: normal.
CRIPE2019-3814525.001.jpg
PMC6815991_03_CRIPE2019-3814525.001.jpg
fig1
The third patient (Figure 1 (IIII1)) was a 4-year-old boy, a nephew for the previous two cases, who presented with micropenis, stretched length from the pubic ramus to the top of the glans 2.2 cm, testicular volume 2.5 cc, normal physical examination findings, and normal growth parameters.
Reported mutations and its location in the KISS1 receptor identified in nCHH patients: colored in orange for previously described mutations and in green for our cases. Residues with asterisk indicate nonsense mutations, and residues without asterisk indicate missense mutations. ED: extracellular domain; TD: transmembrane domain; ID: intracellular domain.
CRIPE2019-3814525.002.jpg
PMC6815991_08_CRIPE2019-3814525.002.jpg
fig2
A substitution of a cytosine for thymidine T305C produced a proline substitution for leucine (L102p), and this residue is localized within the first exoloop of the kisspeptin receptors (Figure 2).
PMC6815991_02
Family pedigree of the reported family: black forms indicate affected members. Circles represent female family members and squares indicate male family members. Roman numerals indicate generations and Arabic numbers indicate individuals in each generation. NL: normal.
CRIPE2019-3814525.001.jpg
PMC6815991_03_CRIPE2019-3814525.001.jpg
fig1
The third patient (Figure 1 (IIII1)) was a 4-year-old boy, a nephew for the previous two cases, who presented with micropenis, stretched length from the pubic ramus to the top of the glans 2.2 cm, testicular volume 2.5 cc, normal physical examination findings, and normal growth parameters.
PMC6815991_03
Family pedigree of the reported family: black forms indicate affected members. Circles represent female family members and squares indicate male family members. Roman numerals indicate generations and Arabic numbers indicate individuals in each generation. NL: normal.
CRIPE2019-3814525.001.jpg
PMC6815991_03_CRIPE2019-3814525.001.jpg
fig1
The third patient (Figure 1 (IIII1)) was a 4-year-old boy, a nephew for the previous two cases, who presented with micropenis, stretched length from the pubic ramus to the top of the glans 2.2 cm, testicular volume 2.5 cc, normal physical examination findings, and normal growth parameters.
PMC6815991_04
PMC6815991_05
PMC6815991_06
PMC6815991_07
PMC6815991_08
Reported mutations and its location in the KISS1 receptor identified in nCHH patients: colored in orange for previously described mutations and in green for our cases. Residues with asterisk indicate nonsense mutations, and residues without asterisk indicate missense mutations. ED: extracellular domain; TD: transmembrane domain; ID: intracellular domain.
CRIPE2019-3814525.002.jpg
PMC6815991_08_CRIPE2019-3814525.002.jpg
fig2
A substitution of a cytosine for thymidine T305C produced a proline substitution for leucine (L102p), and this residue is localized within the first exoloop of the kisspeptin receptors (Figure 2).