The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 - case report.

Objectives: The aetiology of short stature in cutis laxa (CL) syndromes is largely unknown. Herein, we report a case with autosomal dominant CL type 3 (ADCL3) with severe short stature and growth hormone (GH) deficiency.

Case presentation: A male patient with a genetically confirmed diagnosis of ADCL3 was referred for endocrinological evaluation of short stature at the age of 3.4 years. The examination revealed severe proportional short stature (-4.14 standard deviations (SD) score for height) in a patient born small for gestational age (birth weight 2080 g, -2.46 SD, birth length 41 cm, -4.22 SD). Assessment of GH reserve with two clonidine stimulation tests (0.15 mg/m²) with peak GH values of 8.07 ng/mL and 2.98 ng/mL, respectively, were indicative of GH deficiency. Also, the MRI examination revealed a small size pituitary. Thus, the treatment with somatropin was started. The height deficit significantly improved (from -4.14 SD to -1.48 SD) without side effects during the follow-up of 4.5 years.

Conclusions: With this report, the GH deficiency as a possible cause of short stature in ADCL3 and the response to somatropin administration were reported for the first time in the literature.