Letter to the Editor
Pseudopseudohypoparathyroidism vs progressive osseous heteroplasia in absence of family history
Seudoseudohipoparatiroidismo frente a heteroplasia ósea progresiva en ausencia de historia familiar
Arrate Peredaa, Eva González Olivab, Isolina Riaño-Galánc,d, Guiomar Pérez de Nanclaresa,
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a Laboratorio de (Epi)Genética Molecular, Instituto de Investigación Sanitaria BioAraba, Hospital Universitario Araba-Txagorritxu, BioAraba, Vitoria-Gasteiz, Álava, Spain
b Endocrinología Infantil, Hospital General Universitario, Elda, Alicante, Spain
c Servicio de Pediatría, Hospital San Agustín, Avilés, Asturias, Spain
d Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U724), Madrid, Spain
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(D) Radiografía de las manos del paciente 2, a los 3 años de edad, donde se observa hipoplasia de las falanges medias del <span class="elsevierStyleSmallCaps">ii</span> y <span class="elsevierStyleSmallCaps">v</span> dedo de ambas manos y discordancia en la maduración ósea carpo/metacarpo.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Arrate Pereda, Eva González Oliva, Isolina Riaño-Galán, Guiomar Pérez de Nanclares" "autores" => array:4 [ 0 => array:2 [ "nombre" => "Arrate" "apellidos" => "Pereda" ] 1 => array:2 [ "nombre" => "Eva" "apellidos" => "González Oliva" ] 2 => array:2 [ "nombre" => "Isolina" "apellidos" => "Riaño-Galán" ] 3 => array:2 [ "nombre" => "Guiomar" "apellidos" => "Pérez de Nanclares" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2387020616002023" "doi" => "10.1016/j.medcle.2016.03.014" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020616002023?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775315001116?idApp=UINPBA00004N" "url" => "/00257753/0000014500000010/v1_201510290045/S0025775315001116/v1_201510290045/es/main.assets" ] ] "itemSiguiente" => array:19 [ "pii" => "S2387020616002151" "issn" => "23870206" "doi" => "10.1016/j.medcle.2015.03.003" "estado" => "S300" "fechaPublicacion" => "2015-11-20" "aid" => "3291" "copyright" => "Elsevier España, S.L.U." 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(C) Feet X-ray of patient 1, showing shortening of the IV and V metatarsals, particularly. (D) Hands X-ray of patient 2, at three years of age, where hypoplasia of the middle phalanges of II and V fingers in both hands and discordance in carpal/metacarpal bone maturation is observed.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">The Albright hereditary osteodystrophy (AHO) phenotype was described as the association of brachydactyly, short stature, short neck, obesity, rounded facies and mental retardation.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> This phenotype can occur in syndromes such as pseudohypoparathyroidism (PHP),<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> pseudopseudohypoparathyroidism (PPHP),<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> progressive osseous heteroplasia (POH)<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> and AHO-like syndrome (or brachydactyly associated with mental retardation, BDMR).<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">4</span></a> Since both PPHP and POH are rare diseases and only exceptionally isolated cases are described (without a family history), we have considered of clinical interest to present these two cases with mutations in the <span class="elsevierStyleItalic">GNAS</span> gene but different phenotypes.</p><p id="par0010" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Case 1</span>: 2-year old girl<span class="elsevierStyleSup">8/12</span> consulting due to short stature. Healthy parents 176<span class="elsevierStyleHsp" style=""></span>cm and 157<span class="elsevierStyleHsp" style=""></span>cm tall; target height 160<span class="elsevierStyleHsp" style=""></span>cm (−0.66<span class="elsevierStyleHsp" style=""></span>SD). Double pregnancy by ICSI <span class="elsevierStyleItalic">(intracitoplasmatic sperm injection)</span>, which presented intrauterine growth retardation (IUGR). Caesarean section at 32<span class="elsevierStyleHsp" style=""></span>weeks<span class="elsevierStyleSup">+2</span>. with Apgar 7/9, weight 1.170<span class="elsevierStyleHsp" style=""></span>g (p3), length 41.5<span class="elsevierStyleHsp" style=""></span>cm (p50) cm, head circumference 32.5<span class="elsevierStyleHsp" style=""></span>cm (p75). Neonatal admission due to meconium ileus solved with enema. Twin brother healthy, weight: 1.760<span class="elsevierStyleHsp" style=""></span>g (p50), Apgar 8/9. The patient received early stimulation for prematurity associated with low birth weight; hospital discharge at 42 months with a development quotient of 100. At age 3: Weschler IQ test with 103. Schooled without curricular problems. Height progression: (2<span class="elsevierStyleSup">8/12</span> years) 81.6<span class="elsevierStyleHsp" style=""></span>cm (−3.7<span class="elsevierStyleHsp" style=""></span>SD), weight 11<span class="elsevierStyleHsp" style=""></span>kg (−2.1<span class="elsevierStyleHsp" style=""></span>SD), head circumference 47.5<span class="elsevierStyleHsp" style=""></span>cm. At age 8: 117<span class="elsevierStyleHsp" style=""></span>cm (−2.1<span class="elsevierStyleHsp" style=""></span>SD), weight 27.7<span class="elsevierStyleHsp" style=""></span>kg (−0.2<span class="elsevierStyleHsp" style=""></span>SD; BMI 2024<span class="elsevierStyleHsp" style=""></span>kg/m<span class="elsevierStyleSup">2</span><span class="elsevierStyleHsp" style=""></span>+<span class="elsevierStyleHsp" style=""></span>0.94<span class="elsevierStyleHsp" style=""></span>SD, p85). Phenotype: almond coloured eyes, crowded teeth, discreetly widened chest. Normal hand X-ray at 4 years of age (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A); metacarpals and metatarsals appear to be shortened (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>B and C). Karyotype 46 XX. No history of ectopic calcifications or kidney problems. Normal renal ultrasonography. Calcium 10.4<span class="elsevierStyleHsp" style=""></span>mg/dl, phosphorus 4.76<span class="elsevierStyleHsp" style=""></span>mg/dl, Mg 2.11<span class="elsevierStyleHsp" style=""></span>mg/dl, 3.21 TSH mIU/L, fT4 1.33<span class="elsevierStyleHsp" style=""></span>ng/dl, 284<span class="elsevierStyleHsp" style=""></span>ng IGF-I/dl, PTH 30.1<span class="elsevierStyleHsp" style=""></span>ng/dl, Vitamin D3: 37<span class="elsevierStyleHsp" style=""></span>ng/ml. At age 9, height 121.5<span class="elsevierStyleHsp" style=""></span>cm (−2.12<span class="elsevierStyleHsp" style=""></span>SD), weight 30<span class="elsevierStyleHsp" style=""></span>kg (−0,E), BMI 20.4<span class="elsevierStyleHsp" style=""></span>kg/m<span class="elsevierStyleSup">2</span> (+0.67<span class="elsevierStyleHsp" style=""></span>SD), bone age of 10.6 years. Pseudopseudohypoparathyroidism suspected</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Case 2</span>: 3 year-old boy<span class="elsevierStyleSup">3/12</span> consulting due to short stature. Mother and father healthy with 161<span class="elsevierStyleHsp" style=""></span>cm and 162<span class="elsevierStyleHsp" style=""></span>cm in height, respectively. Oligohydramnios pregnancy in third trimester. Birth at 38<span class="elsevierStyleHsp" style=""></span>weeks. Apgar 7/8, birth weight 2.170<span class="elsevierStyleHsp" style=""></span>g (−2.4<span class="elsevierStyleHsp" style=""></span>SD), length 43<span class="elsevierStyleHsp" style=""></span>cm (−3.8<span class="elsevierStyleHsp" style=""></span>SD), head circumference 33<span class="elsevierStyleHsp" style=""></span>cm (−1.4<span class="elsevierStyleHsp" style=""></span>SD). Good psychomotor development, although kinesiotherapy is needed due to decreased mobility of right upper limb. Diffuse subcutaneous (abdomen and foot at 3 months of life) and intra-articular (right shoulder) calcifications were observed, also a slow growth rate, osteopenia and unspecific bone abnormalities in the hands (middle phalanx hypoplasia of II and V finger in both hands) (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>D), with decreased thumb muscle function, more significant on the right side. At the first visit (3<span class="elsevierStyleSup">3/12</span> years of age), had a height of 81.5<span class="elsevierStyleHsp" style=""></span>cm (−4.7<span class="elsevierStyleHsp" style=""></span>SD), weight of 9100<span class="elsevierStyleHsp" style=""></span>kg (−2.9<span class="elsevierStyleHsp" style=""></span>SD), with a HC of 47.5<span class="elsevierStyleHsp" style=""></span>cm (−2.4<span class="elsevierStyleHsp" style=""></span>SD), active. At age 5<span class="elsevierStyleSup">4/12</span>, the child presented a height of 94.8<span class="elsevierStyleHsp" style=""></span>cm (−4.1<span class="elsevierStyleHsp" style=""></span>SD) 12.15<span class="elsevierStyleHsp" style=""></span>kg weight (−2.4<span class="elsevierStyleHsp" style=""></span>SD), BMI: 13.52<span class="elsevierStyleHsp" style=""></span>kg/m<span class="elsevierStyleSup">2</span> (−1.2<span class="elsevierStyleHsp" style=""></span>SD). No abdominal calcification progress was observed and foci of calcification were discovered in the heels. In the last visit, at age 6<span class="elsevierStyleSup">3/12</span>, his height was 99.1<span class="elsevierStyleHsp" style=""></span>cm (−3.9<span class="elsevierStyleHsp" style=""></span>SD), weight 13.4<span class="elsevierStyleHsp" style=""></span>kg (−2.4<span class="elsevierStyleHsp" style=""></span>SD), BMI: 13.64<span class="elsevierStyleHsp" style=""></span>kg/m<span class="elsevierStyleSup">2</span> (−1.2<span class="elsevierStyleHsp" style=""></span>SD). The study of calcium phosphate metabolism (calcium, phosphorus, alkaline phosphatases, paratohormone and 25-hydroxyvitamin D3) was normal, IGF-I, TSH and gonadotropins were also normal for his age. The karyotype was normal, 46 XY. In view of the lack of hormone resistance and the presence of heterotopic ossification, progressive osseous heteroplasia was established as diagnostic suspicion.</p><p id="par0020" class="elsevierStylePara elsevierViewall">The genetic study of the <span class="elsevierStyleItalic">GNAS</span> gene identified the novel mutation c.733T> C (p.Ile244Thr) (exon 10) in case 1, which was predicted by both Polyphen as well as SIFT as pathological; and in case 2, the c.568_571del common deletion (p.Asp190Metfs*14) (exon 7), associated to PPHP,<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> PHP1A<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> and POH<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">6</span></a> (<a id="intr0010" class="elsevierStyleInterRef" href="http://www.lovd.nl/GNAS">http://www.LOVD.nl/GNAS</a>). In both cases, the familial study confirmed the <span class="elsevierStyleItalic">de novo</span> origin of the mutations. The allele specific PCR allowed to confirm in case1 that the mutation originated in the paternal allele. It could not be confirmed in the second case, as none of the studied polymorphisms was informative.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The AHO phenotype can occur both associated with resistance to PTH (PHP)<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> as well as in its absence (PPHP/POH).<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> Both the POH as well as the PPHP can be found in families with PHP-Ia and, occasionally, in isolation<a class="elsevierStyleCrossRefs" href="#bib0075"><span class="elsevierStyleSup">5,7,8</span></a> (as in these two cases), as both of them were caused by inactivating mutations in the <span class="elsevierStyleItalic">GNAS</span> gene. In the case of PHP-Ia, mutations are inherited maternally, while paternally in the case of PPHP/POH. Sometimes, mutations in the paternal allele produce a POH phenotype that is relatively different to PPHP, as it manifests by intramembranous heterotopic ossification, progressing into deeper tissues (skeletal muscle),<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> such as those presented in the second case, which had already been described in another case of POH with the same genetic alteration.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">6</span></a> Ossification monitoring and intervention is recommended only when preventing proper joint mobility due to a high recurrence rate.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> Regarding AHO's typical features, those that are most relevant for the correct identification of isolated forms are: (i) Short height, reason for consultation of both patients and main cause of referral to the endocrinology department<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">8</span></a>; (ii) brachydactyly involves the III, IV and V metacarpal and I distal phalanx, but this shortening might not be detected until six years of age,<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">9</span></a> as in case 1, manifested at the age of 8. Short height and brachydactyly are the result of premature epiphysis closure due to Gsα haploinsufficiency affecting PTH/PTHrP signalling in chondrocytes<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a> and (iii) The IUGR observed in both cases, has to do with the transcripts derived from the <span class="elsevierStyleItalic">GNAS</span> paternal allele, which are required for foetal growth and the placenta's development.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a></p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0030" class="elsevierStylePara elsevierViewall">This study was partially funded by the <span class="elsevierStyleGrantSponsor" id="gs1">Carlos III Institute</span> (grants <span class="elsevierStyleGrantNumber" refid="gs1">PI10/0148</span>, <span class="elsevierStyleGrantNumber" refid="gs1">PI13/00467</span> to GPdN). Arrate Pereda has a scholarship funded by the <span class="elsevierStyleGrantSponsor" id="gs2">Spanish Ministry of Health</span> (<span class="elsevierStyleGrantNumber" refid="gs2">FI11/00309</span>); and Dr. Guiomar Pérez de Nanclares received partial economic help from the I3SNS program of the Spanish Ministry of Health (<span class="elsevierStyleGrantNumber" refid="gs2">CP03/0064; SIVI 1395-1309</span>).</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Authorship</span><p id="par0035" class="elsevierStylePara elsevierViewall">Arrate Pereda and Eva González Oliva have equally collaborated in the development of this work.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Authorship" ] 2 => array:2 [ "identificador" => "xack212611" "titulo" => "Acknowledgements" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Pereda A, González Oliva E, Riaño-Galán I, Pérez de Nanclares G, Seudoseudohipoparatiroidismo frente a heteroplasia ósea progresiva en ausencia de historia familiar. Med Clin (Barc). 2015;145:e25–e27.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 2396 "Ancho" => 2998 "Tamanyo" => 710358 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) Left hand X-ray of patient 1, at four years of age, where no alteration is observed and (B) at eight years of age, showing shortening of the III, IV and V metacarpal and phalanx I. (C) Feet X-ray of patient 1, showing shortening of the IV and V metatarsals, particularly. (D) Hands X-ray of patient 2, at three years of age, where hypoplasia of the middle phalanges of II and V fingers in both hands and discordance in carpal/metacarpal bone maturation is observed.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0055" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Pseudohypoparathyroidsm: an example of “Seabright syndrome”" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "F. Albright" 1 => "C.H. Burnett" 2 => "P.H. Smith" 3 => "W. 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