Letter to the Editor
Growth hormone treatment in 2 patients with 22q11.21 deletion syndrome
Tratamiento con hormona de crecimiento en 2 pacientes con deleción 22q11.21
M. Pilar Bahíllo-Curiesesa,
, Pablo Prieto-Matosb, Aranzazu Hernández-Fabiánc, Selma Vázquez-Martínd
Corresponding author
a Unidad de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Clínico Universitario de Valladolid, Valladolid, Spain
b Unidad de Endocrinología Infantil, Servicio de Pediatría, Hospital Universitario de Salamanca, Salamanca, Spain
c Unidad de Neurología Infantil, Servicio de Pediatría, Hospital Universitario de Salamanca, Salamanca, Spain
d Unidad de Neurología Pediátrica, Servicio de Pediatría, Hospital Clínico Universitario de Valladolid, Valladolid, Spain
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Pilar Bahíllo-Curieses, Pablo Prieto-Matos, Aranzazu Hernández-Fabián, Selma Vázquez-Martín" "autores" => array:4 [ 0 => array:4 [ "nombre" => "M. Pilar" "apellidos" => "Bahíllo-Curieses" "email" => array:1 [ 0 => "pilarbahilloc@yahoo.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Pablo" "apellidos" => "Prieto-Matos" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Aranzazu" "apellidos" => "Hernández-Fabián" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 3 => array:3 [ "nombre" => "Selma" "apellidos" => "Vázquez-Martín" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] ] "afiliaciones" => array:4 [ 0 => array:3 [ "entidad" => "Unidad de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Clínico Universitario de Valladolid, Valladolid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidad de Endocrinología Infantil, Servicio de Pediatría, Hospital Universitario de Salamanca, Salamanca, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Unidad de Neurología Infantil, Servicio de Pediatría, Hospital Universitario de Salamanca, Salamanca, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Unidad de Neurología Pediátrica, Servicio de Pediatría, Hospital Clínico Universitario de Valladolid, Valladolid, Spain" "etiqueta" => "d" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Tratamiento con hormona de crecimiento en 2 pacientes con deleción 22q11.21" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">22q11.2 deletion syndrome causes birth defects whose characteristics include facial abnormalities, heart defects, velopharyngeal insufficiencies, immune disorders and hypocalcaemia. In some cases, it can even present with associated endocrine disorders.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> An overall incidence of 1/4000–6000 live births is estimated, being these figures approximate due to the great clinical variability.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Case 1:</span> 8-year and 3-month-old male under <span class="elsevierStyleItalic">growth hormone</span> (GH) treatment from the age of 3 years and 2 months. Personal history: first twin (dichorionic pregnancy, diamniotic). Somatometry at birth: weight 2540<span class="elsevierStyleHsp" style=""></span>g (−0.8 SD), length 43<span class="elsevierStyleHsp" style=""></span>cm (−2.9 SD), head circumference (HC) 32<span class="elsevierStyleHsp" style=""></span>cm (−0.85 SD), GA 37 weeks. Slight psycho-intellectual delay, stable cognitive impairment and dysmorphic features. Underwent equinovarus foot surgery. Astigmatism. Physical examination (treatment onset): weight 10.3<span class="elsevierStyleHsp" style=""></span>kg, height 86.5<span class="elsevierStyleHsp" style=""></span>cm (−3.32 SD), BMI 13.7<span class="elsevierStyleHsp" style=""></span>kg/m<span class="elsevierStyleSup">2</span> (−2.2 SD). Narrow forehead, hypertelorism, broad nasal pyramid, flat nasal root, small and low pinnae, big mouth, thin lips, flat philtrum, retrognathia, clinodactyly in the fifth finger and bilateral simian crease. Tanner I. The rest was normal. Growth rate 4.1<span class="elsevierStyleHsp" style=""></span>cm/year (−3.3 SD). Tests performed: blood tests, normal thyroid hormones. Negative celiac serology. IGF-1 78.9<span class="elsevierStyleHsp" style=""></span>ng/ml (−0.8 SD) and IGFBP3 2.66<span class="elsevierStyleHsp" style=""></span>μg/ml. 46 XY Karyotype. GH stimulation tests: Basal GH 0.67<span class="elsevierStyleHsp" style=""></span>ng/ml, peak 1.57<span class="elsevierStyleHsp" style=""></span>ng/ml (clonidine); basal GH 2<span class="elsevierStyleHsp" style=""></span>ng/ml, peak 1.57<span class="elsevierStyleHsp" style=""></span>ng/ml (insulin). Normal cranial MRI. Bone age: one year (TW2RUS).</p><p id="par0015" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Case 2:</span> 10 years and 2 months-old male under GH treatment from the age of 4 years and 7 months due to unrecovered intrauterine growth restriction (IUGR). Somatometry at birth: weight 2825<span class="elsevierStyleHsp" style=""></span>g (−1.8 SD), length 46.5<span class="elsevierStyleHsp" style=""></span>cm (−2.7 SD), HC 34.5<span class="elsevierStyleHsp" style=""></span>cm (−0.75 SD), GA 42 weeks. Congenital right peripheral facial paralysis. Speech therapy follow-up due to rhinolalia aperta and expressive language disorder. Physical examination (treatment onset): height 97<span class="elsevierStyleHsp" style=""></span>cm (−2.6 SD), weight 16.1<span class="elsevierStyleHsp" style=""></span>kg (−0.85 SD), BMI 17.1<span class="elsevierStyleHsp" style=""></span>kg/m<span class="elsevierStyleSup">2</span> (+0.6 SD). Deviation in the left corner of the mouth, right nasolabial fold disappearance, hypertelorism, flat nasal root, detached pinnae with low implantation, big mouth, thin lips, large philtrum, retrognathia, short neck, flared chest with wide-spaced nipples. Tanner I. Tests performed: blood tests, normal thyroid hormones. Negative celiac serology. IGF-1 115<span class="elsevierStyleHsp" style=""></span>ng/ml (+0.1 SD) and IGFBP3 2.3<span class="elsevierStyleHsp" style=""></span>μg/ml (+0.5 SD). XY Karyotype. Bone age: 3 years (G&P).</p><p id="par0020" class="elsevierStylePara elsevierViewall">After 5 and 6 years (cases 1 and 2, respectively) of GH treatment, the height has improved, showing a current height of 134.2<span class="elsevierStyleHsp" style=""></span>cm (−1 SD) in case 1 and 128.1<span class="elsevierStyleHsp" style=""></span>cm (−0.49 SD) in case 2, with bone ages of 8 years and 1 month and 12 years, both with Tanner I. A CGH-<span class="elsevierStyleItalic">arrays</span>, study was conducted, finding pathogenic deletion of similar size in both cases (2.569 and 2.930<span class="elsevierStyleHsp" style=""></span>Mb) in the 22q11.21 cytoband affecting the critical 22q11.2 microdeletion syndrome region. In the face of a new diagnosis, an echocardiogram is performed, finding a bicuspid aortic valve in case 1, normal abdominal ultrasound in both and an immunological study showing a minimal decrease in CD8 in case 1 and a slight decrease in IgM (30.4<span class="elsevierStyleHsp" style=""></span>mg/dl; vn<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>50<span class="elsevierStyleHsp" style=""></span>mg/dl) in case 2.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Microdeletions and translocations in the 22q11.2 region are associated with more than 80 defects and malformations, with different combinations and different severities.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">3</span></a> Classically, references were made to different syndromes (DiGeorge, velocardiofacial, cardiofacial), but all have been renamed as 22q11.2 deletion syndrome. The typical clinical features of patients with this deletion were not present in any of the cases reported. Both were diagnosed with IUGR, and had no hypocalcaemia, congenital heart defects or palatal abnormalities. Although many patients with 22q11.2 deletion syndrome have mild facial dysmorphia, those of our patients were evident, displaying the common features described above. Growth retardation is common in patients with 22q11.2 deletion, with a variable prevalence (10–41%), this could be present at birth, as in the 2 cases we have reported.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">4–7</span></a> A GH deficit has been described in 4% of the cases, all with a significantly pathological height and some with pituitary anatomical malformation and improved height with GH administration.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">4–6</span></a> Very few data have been published in connection with GH treatment in these patients, especially in reference to treatment response and final height. In the two patients reported, the response to GH treatment has been adequate, with significant improvement in height, not having yet reached the final target. Although the 22q11.2 microdeletion syndrome is associated with a predisposition to other autoimmune disorders (type 1 diabetes, thyroiditis), these patients have not yet developed any of these conditions.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">3</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">The data provided can support the beneficial effect of GH administration in patients with 22q11.21 deletion and pathological short stature due to the good response observed. When monitoring these patients, it is important to pay attention to potentially associated endocrine disorders.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Bahíllo-Curieses MP, Prieto-Matos P, Hernández-Fabián A, Vázquez-Martín S. Tratamiento con hormona de crecimiento en 2 pacientes con deleción 22q11.21. 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| Year/Month | Html | Total | |
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| 2024 November | 1 | 0 | 1 |
| 2024 October | 15 | 2 | 17 |
| 2024 September | 18 | 0 | 18 |
| 2024 August | 12 | 1 | 13 |
| 2024 July | 13 | 0 | 13 |
| 2024 June | 8 | 0 | 8 |
| 2024 May | 8 | 1 | 9 |
| 2024 April | 10 | 0 | 10 |
| 2024 March | 7 | 0 | 7 |
| 2024 February | 8 | 0 | 8 |
| 2024 January | 5 | 0 | 5 |
| 2023 December | 14 | 0 | 14 |
| 2023 November | 10 | 0 | 10 |
| 2023 October | 17 | 0 | 17 |
| 2023 September | 15 | 1 | 16 |
| 2023 August | 6 | 0 | 6 |
| 2023 July | 10 | 0 | 10 |
| 2023 June | 9 | 0 | 9 |
| 2023 May | 10 | 0 | 10 |
| 2023 April | 8 | 1 | 9 |
| 2023 March | 1 | 0 | 1 |
| 2023 February | 4 | 0 | 4 |
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| 2022 December | 11 | 0 | 11 |
| 2022 November | 4 | 0 | 4 |
| 2022 October | 2 | 0 | 2 |
| 2022 September | 8 | 0 | 8 |
| 2022 August | 3 | 0 | 3 |
| 2022 July | 2 | 0 | 2 |
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| 2022 May | 2 | 0 | 2 |
| 2022 April | 2 | 0 | 2 |
| 2022 March | 2 | 0 | 2 |
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