ESPE Abstracts

A 6-year-old girl presented with hypertrichosis all over the body. She was born at term with a birth weight of 2 kg. She had a paralytic squint with excess body hair since birth. She had delayed developmental milestones. She had HTSDS = -1.3, BMI SDS = 0.66. Her Mid-parental HtSDS = 0. She had no other signs of puberty. (breast Tanner 1). Investigations revealed DHEAS = 3.3 Umol/L, Estradiol = 43 pmol/l, FSH = 1.5 IU/L. LH = 0.5 IU/L, Testo: 0.63 nmol/l, IGF1 = 200 ug/l, FT4 = 14 pmol/l, TSH = 1.66 mIU/L. She had slow learning abilities attending a regular school. She had normal cardiac function by Echocardiography. At the age of 12, she continued to have learning difficulties, hypertrichosis, hairy elbow, ptosis, and squint (underwent corrective surgery). She had gastritis and digestion complexities. Her HtSDS = -1.3 (normal growth rate) BMI = 1.5). She started menstruation at the age of 11.5 years. She had normal renal and hepatic functions and a normal hemogram. Her 17OHP = 4.7 nmol/l, Androstenedione = 7.6 nmol/l, DHEAS = 4.5 pmol/l, Estradiol: 147.0 pmol/l, FSH: 7.8 IU/L, FT4: 16.2 pmol/l,, IGF1: 479.0 ug/, LH = 9.3 IU/L and Testosterone = 1.76 nmol/l (25/04/21). Her bone age = 14.5 years (advanced). Her predicted adult height was = 150 cm. Her CT of the head revealed normal optic chiasm, normal pituitary, and para-sellar structures. Visualized brain and the ventricles are unremarkable. Whole Exome sequencing plus mito (WES+) revealed that she is heterozygous for a De Novo Pathogenic Variant in KMT2A gene associated with Autosomal Dominant Wiedemann-Steiner Syndrome which is consistent with her reported clinical features. As both parents tested negative for the variant, it is suggested that it arose de novo in the child. Pathogenic variants in the KMT2A gene have been identified with hypertrichosis cubiti, intellectual disability, short stature, and characteristic facial features. Additional features may include cardiac, renal, and skeletal anomalies, hypotonia, gastrointestinal dysfunction, and delayed or advanced bone age. In Conclusion: This girl with Wiedemann–Steiner syndrome (WSS) had significant hypertrichosis, short stature (compared to her mid-parental height), with normal IGF1 level and advanced bone age. She had normal pubertal tempo and hormones. She had mild developmental delay. WSS shall be considered in children with hypertrichosis and short stature with mild developmental delay