From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic  reassessment of treatment-refractory short stature

Azzeddine Laaraje; Khadija Abassi; Abdelilah Radi; Rachid Abilkassem

doi:10.5114/pedm.2025.158552

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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Case report

From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic reassessment of treatment-refractory short stature

Azzeddine Laaraje

¹

,

Khadija Belcadi Abassi

¹

,

Abdelilah Radi

¹

,

Rachid Abilkassem

¹

Department of Pediatrics, Mohammed V Training Military Hospital, Mohammed V University, Rabat, Morocco

Pediatr Endocrinol Diabetes Metab 2025; 31 (4): 209-214

DOI: https://doi.org/10.5114/pedm.2025.158552

Online publish date: 2026/01/27

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- 0380_From growth.pdf [3.01 MB]

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1. Koemans TS, Kleefstra T, Chubak MC, et al. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. PLoS Genet 2017; 13: e1006864. doi: 10.1371/journal.pgen.1006864.

2. Rots D, Choufani S, Faundes V, et al. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. Am J Hum Genet 2024; 111: 1626–1642. doi: 10.1016/j.ajhg.2024.06.009.

3. Wit JM, Oostdijk W, Losekoot M, van Duyvenvoorde HA, Ruivenkamp CA, Kant SG. MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature. Eur J Endocrinol 2016; 174: R145–R173. doi: 10.1530/EJE-15-0937.

4. Storr HL, Chatterjee S, Metherell LA, et al. Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action. Endocr Rev 2019; 40: 476–505. doi: 10.1210/er.2018-00146.

5. Gregory LC, Dattani MT. The molecular basis of congenital hypopituitarism and related disorders. J Clin Endocrinol Metab 2020; 105: dgz184. doi: 10.1210/clinem/dgz184.

6. Kleefstra T, Schenck A, Kramer JM, van Bokhoven H. The genetics of cognitive epigenetics. Neuropharmacology 2014; 80: 83–94. doi: 10.1016/j.neuropharm.2013.12.025.

7. Fahrner JA, Bjornsson HT. The Mendelian disorders of the epigenetic machinery. BMC Med 2019; 17: 191.

8. Lavery WJ, Barski A, Wiley S, Schorry EK, Lindsley AW. KMT2C/D COMPASS complex-associated diseases: an emerging class of congenital regulopathies. Clin Epigenetics 2020; 12: 10. doi: 10.1186/s13148-019-0802-2.

9. Yang Q, Zhang Q, Yi S, et al. Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2. Front Neurol 2024; 15: 1340458. doi: 10.3389/fneur.2024.1340458.

10. Haseley A, Wallis K, DeBrosse S. Kleefstra syndrome: Impact on parents. Disabil Health J 2021; 14: 101018. doi: 10.1016/j.dhjo.2020.101018.

From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic reassessment of treatment-refractory short stature

Azzeddine Laaraje 1 , Khadija Belcadi Abassi 1 , Abdelilah Radi 1 , Rachid Abilkassem 1

Azzeddine Laaraje

¹

,

Khadija Belcadi Abassi

¹

,

Abdelilah Radi

¹

,

Rachid Abilkassem

¹