Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome

• Published in: Endocrinology, diabetes & metabolism case reports diabetes & metabolism case reports, 2018-04, Vol.2018
• Main Authors: Siew, Jia Xuan, Yap, Fabian
• Format: Article
• Language: English
• Subjects: Adolescent/young adult; Appetite reduction/loss; Asian - Indian; BMI; Cardiology; Chromosomal analysis; Facies - abnormal; Female; GH stimulation; Growth retardation; Insight into Disease Pathogenesis or Mechanism of Therapy; Molecular genetic analysis; Ovaries; Paediatric; Psychomotor retardation; Puberty; Puberty (early/precocious); Short stature; Singapore; Slow growth; Speech delay; Tanner scale
• ISSN: 2052-0573; 2052-0573
• DOI: 10.1530/EDM-18-0001

Summary Growth anomaly is a prominent feature in Wolf-Hirschhorn syndrome (WHS), a rare congenital disorder caused by variable deletion of chromosome 4p. While growth charts have been developed for WHS patients 0–4 years of age and growth data available for Japanese WHS patients 0–17 years, information on pubertal growth and final height among WHS children remain lacking. Growth hormone (GH) therapy has been reported in two GH-sufficient children with WHS, allowing for pre-puberty catch up growth; however, pubertal growth and final height information was also unavailable. We describe the complete growth journey of a GH-sufficient girl with WHS from birth until final height (FH), in relation to her mid parental height (MPH) and target range (TR). Her growth trajectory and pubertal changes during childhood, when she was treated with growth hormone (GH) from 3 years 8 months old till 6 months post-menarche at age 11 years was fully detailed. Learning points: Pubertal growth characteristics and FH information in WHS is lacking. While pre-pubertal growth may be improved by GH, GH therapy may not translate to improvement in FH in WHS patients. Longitudinal growth, puberty and FH data of more WHS patients may improve the understanding of growth in its various phases (infancy/childhood/puberty).