PMC9204026_01
Case pedigree and growth chart. (A) Pedigree: the arrow indicates index case; circle, females; square, males; full black square, complete phenotype (small genitalia and hyposmia); half black square, incomplete phenotype (normal genitalia development and olfactory dysfunction). (B) Growth chart of index case, using Argentine standards for males. MPH: adjusted mid-parental height. The blue bars indicate periods of testosterone enanthate treatment.
fped-10-887658-g001.jpg
PMC9204026_03_fped-10-887658-g001.jpg
F1
When he was 15 years old and off testosterone, his height and growth velocity were impaired (Figure 1B).
PMC9204026_02
PMC9204026_03
Case pedigree and growth chart. (A) Pedigree: the arrow indicates index case; circle, females; square, males; full black square, complete phenotype (small genitalia and hyposmia); half black square, incomplete phenotype (normal genitalia development and olfactory dysfunction). (B) Growth chart of index case, using Argentine standards for males. MPH: adjusted mid-parental height. The blue bars indicate periods of testosterone enanthate treatment.
fped-10-887658-g001.jpg
PMC9204026_03_fped-10-887658-g001.jpg
F1
When he was 15 years old and off testosterone, his height and growth velocity were impaired (Figure 1B).
Analysis of next-generation sequencing results. (A) Prioritization of variants found in the proband by targeted exome NGS. (B) Integrative Genome Viewer (IGV) visualization of variant NM_018117.12:c.163dup, p.(Gln55Pro fs7*). (C) Prediction of nonsense-mediated decay using NMDEscPredictor.
fped-10-887658-g002.jpg
PMC9204026_03_fped-10-887658-g002.jpg
F2
TrueSight One sequencing panel selected one variant (Figure 2A) at chromosome position 10.122612112, corresponding to exon 2 of WDR11 (Figure 2B).