SUN-202 - Significant Growth Response to GH in ANKRD11-Associated Short Stature.

Pathogenic variants in the ANKRD11 gene are associated with KBG syndrome, a condition characterized by neurodevelopmental abnormalities, distinctive craniofacial features, and short stature. Despite the high prevalence of growth impairment, data on growth hormone (GH) responsiveness in this population remain limited.

Clinical case: We report a 7 year old 8 months male evaluated for short stature. Anthropometric assessment revealed a height of 110 cm (Z -3.26 SDS) and reduced growth velocity of 5 cm/year, with a bone age delayed of 5 years. Additional clinical features included right cryptorchidism, which recquired orchiectomy.
Endocrine evaluation demonstrated IGF-1: 53.6 ng/ml (-1.73 SDS). Genetic analysis via exome sequencing identified a missense variant in ANKRD11,G585. T. pGlu90 classified as likely pathogenic. GH therapy was initiated at 0.040 mg/kg/day. After 1 year, the patient exhibited marked catch-up growth, with height improving to -2.5 SDS and growth velocity increasing to 8 cm/year. Actually, pacient height is 144.5 cm (- 1.61) with according puberty evolution.

Discussion: ANKRD11 encodes a transcriptional regulator involved in developmental pathways, and its disruption underlies the phenotypic spectrum of KBG syndrome. While short stature is a recognized feature, therapeutic outcomes with GH remain insufficiently characterized. This case demonstrates a robust growth response, supporting potential GH sensitivity in ANKRD11-related disorders. Additionally, genitourinary findings such as cryptorchidism, although not universal, have been intermittently reported and may represent part of the broader clinical spectrum.

Conclusion: This case provides evidence of significant responsiveness to GH therapy in a child with an ANKRD11 mutation, supporting its consideration as a therapeutic strategy in growth impairment.

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