Pseudohypoparathyroidism: an endocrine orphan disease. case report

Introduction: Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterized by resistance to the parathyroid hormone. There are few reports on PHP in Colombia, so the publication of the present case contributes to increase the interest in its research in the clinical setting. Case presentation: An 18-year-old male with a history of hypothyroidism diagnosed at 4 months of age, stunted growth, delayed puberty, obesity, brachydactyly, pathologic fractures, femoral osteochondroma, insomnia, paresthesia, and chronic constipation was referred to the endocrinology service of a tertiary care center in Bogotá (Colombia) after being hospitalized following a seizure episode. On admission, laboratory tests revealed hypocalcemia, hyperphosphatemia, 25-hydroxy vitamin D in the range of insufficiency and elevated PTH. Imaging studies showed heterotopic ossifications and calcifications of the basal ganglia. A genetic study confirmed the diagnosis of PHP1A, so treatment was started with calcium, cholecalciferol and phosphorus chelators, leading to a satisfactory course. Both the patient and his first-degree relatives received genetic counseling and interdisciplinary assessment. Conclusion: Although PHP type 1A is an unrecognized complex genetic disorder, it has a critical clinical importance within the differential diagnoses of hypocalcemia. Without prompt diagnosis and treatment, patients may experience serious and potentially fatal metabolic consequences.

Introducción. El seudohipoparatiroidismo (SPT) es un trastorno genético poco frecuente que se caracteriza por la resistencia a la hormona paratiroidea (PTH). En Colombia existen pocos reportes sobre esta enfermedad, por lo que la publicación del presente caso contribuye a aumentar el interés en su búsqueda en el ámbito clínico. Presentación del caso. Hombre de 18 años con antecedente de hipotiroidismo (diagnosticado a los 4 meses de nacido), retraso del crecimiento, desarrollo puberal tardío, obesidad, braquidactilia, fracturas patológicas, osteocondroma femoral, insomnio, parestesias y estreñimiento crónico, quien asistió al servicio de endocrinología de un hospital de tercer nivel de Bogotá (Colombia) remitido luego de haber estado hospitalizado por un episodio convulsivo. En dicha hospitalización los laboratorios evidenciaron hipocalcemia, hiperfosfatemia y 25-OH vitamina D en rango de insuficiencia con niveles elevados de PTH, y los estudios imagenológicos demostraron osificaciones heterotópicas y calcificaciones de ganglios basales del cerebro. Al paciente se le realizó un estudio genético que confirmó el diagnóstico de SPT1A, por lo que se le inició manejo con suplencia de calcio, colecalciferol y quelantes de fósforo, con lo cual evolucionó satisfactoriamente. Tanto el paciente como sus familiares de primer grado recibieron asesoramiento y valoración interdisciplinaria. Conclusiones. El SPT1A es un trastorno genético complejo poco conocido pero de alta importancia clínica dentro de los diagnósticos diferenciales de hipocalcemia que debe considerarse ya que sin el diagnóstico y tratamiento oportunos, los pacientes pueden presentar consecuencias metabólicas graves y potencialmente fatales.

Deficiencia de vitamina D asociada a hiperfosfatemia en niños / Vitamin D deficiency associated with hyperphosphatemia in children

RESUMEN Los niños con deficiencia de vitamina D pueden tener fósforo normal o alto a pesar de tener una prueba de hormona paratiroidea (PTH) elevada. El pseudohipoparatiroidismo (PHP) se caracteriza por cursar con hiperfosfatemia. La similitud que puede ocurrir entre la deficiencia de vitamina D asociada a hiperfosfatemia y el PHP hace importante revisar reportes de casos de deficiencia de vitamina D asociada a hiperfosfatemia para entender por qué puede ocurrir esta asociación y cuál es la relevancia de estudiar el nivel de vitamina D en niños con sospecha de PHP. El objetivo de esta revisión fue identificar reportes de niños con deficiencia de vitamina D asociada a hiperfosfatemia y discutir los mecanismos de esta asociación. Se identificaron reportes de 7 casos en niños. La deficiencia de vitamina D reduciría la respuesta fosfatúrica ante una PTH elevada. Se concluye que es importante descartar deficiencia de vitamina D en todo niño con sospecha de PHP.

ABSTRACT Children with vitamin D deficiency can have normal or high phosphorus despite having a high parathyroid hormone test (PTH). Pseudohypoparathyroidism (PHP) is characterized by hyperphosphatemia. The similarity that can occur between vitamin D deficiency associated with hyperphosphatemia and PHP makes it important to review case reports of vitamin D deficiency associated with hyperphosphatemia to understand why this association may occur and what is the relevance of studying the vitamin D level in children with suspected PHP. The aim of this review was to identify reports of children with vitamin D deficiency associated with hyperphosphatemia and to discuss the mechanisms of this association. Reports of 7 children cases were identified. Vitamin D deficiency could reduce the phosphaturic response to elevated PTH. It is concluded that it is important to rule out vitamin D deficiency in all children with suspected PHP.

Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case.

Ectopic calcification in soft tissue is associated with several disorders including pseudohypoparathyroidism (PHP), which is characterized by resistance or nonresponse to parathyroid hormone (PTH) function. Association between PHP and 22q11DS, also known as DiGeorge syndrome, is rare, especially in children. We describe a newborn girl diagnosed with 22q11DS, presenting ectopic calcifications in soft tissue and suspicion of PHP. PTH function showed values close to the upper limit of the reference value. Radiology showed bone callus in the right wrist. PHP can be a new clinical finding associated with 22q11DS. Parathyroid function investigation in individuals with 22q11DS, presenting bone dysmorphisms and/or calcium metabolism alterations, should be considered.

Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B.

CONTEXT: Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by inactivating mutations in the exons of GNAS that encode the alpha-subunit of the stimulatory G protein (Gsα). In some cases abnormal methylation of exon A/B of GNAS, a hallmark of PHP1B, has been reported. OBJECTIVE: To identify the underlying genetic basis for PHP1A/PPHP in patients in whom molecular defects were not detected by GNAS sequencing and microarray-based analysis of copy number variations. METHODS: Whole genome sequencing (WGS) and pyrosequencing of differentially methylated regions (DMRs) of GNAS using genomic deoxyribonucleic acid from affected patients. RESULTS: We identified 2 novel heterozygous GNAS deletions: a 6.4 kb deletion that includes exon 2 of GNAS in the first proband that was associated with normal methylation (57%) of exon A/B DMR, and a 1438 bp deletion in a second PHP1A patient that encompasses the promoter region and 5' untranslated region of Gsα transcripts, which was inherited from his mother with PPHP. This deletion was associated with reduced methylation (32%) of exon A/B DMR. CONCLUSIONS: WGS can detect exonic and intronic mutations, including deletions that are too small to be identified by microarray analysis, and therefore is more sensitive than other techniques for molecular analysis of PHP1A/PPHP. One of the deletions we identified led to reduced methylation of exon A/B DMR, further refining a region needed for normal imprinting of this DMR. We propose that deletion of this region can explain why some PHP1A patients have reduced of methylation of the exon A/B DMR.

Seudohipoparatiroidismo 1b / Pseudohypoparathyroidism 1b

RESUMEN El seudohipoparatiroidismo 1b se caracteriza por resistencia aislada a la parathormona, en ausencia de las manifestaciones típicas de la osteodisfrofia hereditaria de Albright; debido a alteraciones epigenéticas del locus GNAS. Puede presentarse de forma esporádica, o heredado de manera autosómico dominante por vía materna. Se presenta paciente masculino de 31 años, con antecedentes de tumores óseos y calcificaciones cerebrales diagnosticados a los 14 años; que se consulta por presentar mareo intenso, rigidez del cuello y la boca, dificultad para hablar y tragar, desorientación y trastornos de percepción; con fenotipo y somatometría normales, y signos de tetania latente (Chvostek y Trouseau positivos). Los estudios realizados mostraron: hipocalcemia, hiperfosfatemia, aumento de niveles de parathormona y múltiples calcificaciones en cerebro y cerebelo. Con tales hallazgos se emite el diagnóstico de seudohipoparatiroidismo 1b, el cual se confirma mediante pruebas moleculares con alteración en el patrón de metilación en el locus GNAS. No presentó alteraciones en el estudio de secuenciación de los 13 exones codificantes del GNAS. Se concluyó como un caso esporádico ante la ausencia de historia familiar de hipocalcemia, combinado con amplia pérdida de metilación del gen GNAS y la no evidencia de deleciones. Se presenta el primer reporte de esta enfermedad en Cuba con estudio molecular(AU)

ABSTRACT Pseudohypoparathyroidism 1b is characterized by isolated resistance to parathormone, in the absence of the typical manifestations of hereditary Albright osteodysphrophy; due to epigenetic alterations of the GNAS locus. It can occur sporadically, or inherited in an autosomal dominant way through the mother. We report the case of a 31-year-old male patient, with history of bone tumors and cerebral calcifications diagnosed at age 14. She came to consultation due to severe dizziness, stiff neck and mouth, difficulty speaking and swallowing, disorientation and perception disorders; he showed normal phenotype and somatometry, and signs of latent tetany (positive Chvostek and Trouseau). Studies have shown hypocalcaemia, hyperphosphatemia, increased levels of parathormone and multiple calcifications in the brain and cerebellum. These findings, pseudohypoparathyroidism 1b is diagnosed confirmed by molecular tests showing alteration in the methylation pattern in the GNAS locus. There were no alterations in the sequencing study of the 13 exons coding for GNAS. It was concluded as a sporadic case in the absence of a family history of hypocalcemia, combined with extensive loss of GNAS gene methylation and no evidence of deletions. This is the first report this disease with molecular study in Cuba(AU)

Late diagnosis of pseudohypoparathyroidism in adulthood. Case series / Pseudohipoparatiroidismo diagnosticado tardíamente en la adultez, una serie de casos

Abstract Introduction: Pseudohypoparathyroidism (PHP) is a rare hereditary disease, characterized by hypocalcemia/hyperphosphatemia secondary to peripheral resistance to parathyroid hormone (PTH). PHP diagnosis is usually precluded since hypocalcemia is considered as the primary diagnosis, thus delaying further diagnostic studies and preventing an adequate management of this clinical condition. Materials and methods: Retrospective review of the databases of the Endocrinology departments of two tertiary care centers of Medellin, Colombia from January 2012 to December 2016. Patients diagnosed with PHP based on clinical presentation and confirmatory laboratory values were included. Results: Four patients met the inclusion criteria. All PHP cases were diagnosed in adulthood despite strong early clinical and laboratory evidence of the disease. Three patients were diagnosed with Fahr's syndrome and two with Albright's hereditary osteodystrophy. The mean values obtained were PTH of 376.8 pg/mL, calcium of 6.17 mg/dL and phosphorus of 6.55 mg/dL. Conclusions: PHP is a rare disorder. This paper describes four PHP cases diagnosed during adulthood. Emphasis should be placed on the judicious approach to the patient with hypocalcemia and hyperphosphatemia with increased PTH and normal renal function, since these symptoms strongly suggest a diagnosis of PHP.

Resumen Introducción. El pseudohipoparatiroidismo (PHP) es una condición rara caracterizada por hipocalcemia e hiperfosfatemia secundarias a resistencia periférica a la hormona paratiroidea (PTH). Es frecuente que la hipocalcemia sea establecida de forma equivocada como diagnóstico primario y que el diagnóstico definitivo de PHP sea tardío, difiriendo los estudios y el manejo específico que exigen estos pacientes. Materiales y métodos. Se revisaron de forma retrospectiva las bases de datos de endocrinología de dos centros terciarios de Medellín, Colombia, desde enero de 2012 a diciembre de 2016. Se incluyeron pacientes con diagnóstico de PHP por presentación clínica y valores confirmatorios de laboratorio. Resultados. Cuatro pacientes cumplieron los criterios de inclusión. Todos los casos fueron diagnosticados en la adultez a pesar de tener evidencia temprana, clínica y bioquímica de la enfermedad. Tres pacientes tenían síndrome de Fahr y dos tenían osteodistrofia hereditaria de Albright. Los valores medios registrados fueron PTH de 376.8 pg/mL, calcio de 6.17 mg/dL y fósforo de 6.55 mg/dL. Conclusiones. El PHP es un trastorno raro; se describen cuatro casos diagnosticados de forma tardía en la adultez. Se enfatiza en el enfoque juicioso del paciente con hipocalcemia, la cual, en presencia de hiperfosfatemia con PTH elevada y función renal normal, debe hacer sospechar el diagnóstico de PHP.

Pseudohipoparatiroidismo neonatal transitorio / Transient neonatal pseudohypoparathyroidism

Se presenta el caso de un neonato pretérmino de 36 semanas de edad gestacional, que nace vía cesárea por preeclamsia severa y macrosomía fetal, manejado en terapia intensiva neonatal por taquipnea transitoria complicada con hipertensión pulmonar, con soporte ventilatorio, sedación, relajación e inótropicos. Al sexto día de vida presenta convulsiones tónicas generalizadas que ceden con el uso de anticonvulsivantes, pero se detectan alteraciones electrolíticas severas (hipocalcemia, hipomagnesemia e hiperfosforemia). Se logra mejoría de los electrolitos pero al suspender las correcciones reaparecen los trastornos electrolíticos a pesar de mantener aportes adecuados de los mismos con niveles elevados de paratohormona (PTH), confirmando diagnóstico de pseudohipoparatiroidismo neonatal transitorio, secundario al uso de medicamentos.

We present the case of a preterm neonate of 36 weeks of gestational age, who was born via cesarean section due to severe preeclampsia and fetal macrosomy, managed in neonatal intensive therapy by transient tachypnea complicated with pulmonary hypertension, with ventilatory, sedation, relaxation and inotropic support, with. On the sixth day of life he presents generalized tonic seizures that subside with the use of anticonvulsants, but severe electrolyte alterations are detected (hypocalcemia, hypomagnesemia and hyperphosphoremia ). Electrolyte improvement is achieved but when corrections are stopped reappear electrolyte disorders despite maintaining adecuate contributions with high levels of paratohormone (PTH), confirming the diagnosis of transient neonatal pseudohypoparathyroidism, secondary to the use of medications.

Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary?

The prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal imaging and biochemical results in 19 patients with pseudohypoparathyroidism with 49 imaging assessments. No cases of nephrocalcinosis were identified. Routine screening for nephrocalcinosis in pseudohypoparathyroidism may not be necessary.

Albright hereditary osteodystrophy: dental management case report / Osteodistrofia hereditária de albright: relato de caso de manejo odontológico

ABSTRACT Albright hereditary osteodystrophy is a disorder comprising phenotypic characteristics of genetic origin, such as short stature, obesity, and brachydactyly. It is a rare disorder and is related to pseudohypoparathyroidism. Within dentistry, it may be associated with enamel hypoplasia and late eruption. Furthermore, due to neurological problems, these patients may impose behavioural difficulties during dental appointments. The present study aims to describe the case of a patient with a possible diagnosis of Albright hereditary osteodystrophy, presenting symptoms and limitations to dental management.

RESUMO A Osteodistrofia Hereditária de Albrighth é uma alteração que compreende características fenotípicas de origem genética, tais como baixa estatura, obesidade e braquidactília. É uma desordem rara e está relacionada com o pseudo-hipoparatireoidismo. No âmbito da Odontologia pode estar associada à hipoplasia de esmalte e erupção tardia dos dentes. Além disto em função de problemas neurológicos estes pacientes podem impor dificuldades de comportamento no momento do atendimento. O presente estudo objetivou descrever um caso clínico de uma paciente, com o possível diagnóstico de Osteodistrofia Hereditária de Albright, apresentando sintomas e limitações ao tratamento odontológico.

Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos / Pseudohypoparathyroidism: report of two cases of late presentation

Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype: short stature, round facies, short neck, obesity, brachydactyly and subcutaneous calcifications, called Albrigth's Hereditary Osteodystrophy (AHO). This spectrum of disorders are caused by several alterations in the gene coding for the alpha subunit of the G protein (GNAS): an ubiquitous signaling protein that mediates the action of numerous hormones such as PTH, TSH, gonadotropins, and ACTH, among others. According to their inheritance with maternal or paternal imprinting, they may manifest in a diversity of clinical forms. Although most commonly diagnosed during childhood, PHP may manifest clinically during adolescence or early adulthood. We report two late presenting cases of pseudohypoparathyroidism. A 21-year-old female with biochemical abnormalities characteristic of pseudohypoparathyroidism who was misdiagnosed as epilepsy and a 13-year-old boy with the classic AHO phenotype but without alterations in phospho-calcium metabolism, compatible with pseudopseudohypoparathyrodism.

Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications

ABSTRACT Objectives To identify a clinical profile and laboratory findings of a cohort of hypoparathyroidism patients and determine the prevalence and predictors for renal abnormalities. Materials and methods Data from medical records of five different visits were obtained, focusing on therapeutic doses of calcium and vitamin D, on laboratory tests and renal ultrasonography (USG). Results Fifty-five patients were identified, 42 females and 13 males; mean age of 44.5 and average time of the disease of 11.2 years. The most frequent etiology was post-surgical. Levels of serum calcium and creatinine increased between the first and last visits (p < 0.001 and p < 0.05, respectively); and serum levels of phosphate decreased during the same period (p < 0.001). Out of the 55 patients, 40 had USG, and 10 (25%) presented with kidney calcifications. There was no significant difference in the amount of calcium and vitamin D doses among patients with kidney calcifications and others. No correlation between serum and urinary levels of calcium and the presence of calcification was found. Urinary calcium excretion in 24h was significantly higher in patients with kidney calcification (3.3 mg/kg/d) than in those without calcification (1.8 mg/kg/d) (p < 0.05). Conclusions The reduction of hypocalcemia and hyperphosphatemia suggest an effectiveness of the treatment, and the increase in serum creatinine demonstrates an impairment of renal function during follow-up. Kidney calcifications were prevalent in this cohort, and higher urinary calcium excretion, even if still within the normal range, was associated with development of calcification. These findings suggest that lower rates of urinary calcium excretion should be aimed for in the management of hypoparathyroidism.

Resistencia a la parathormona como causa infrecuente de hipocalcemia de inicio tardío en pacientes pediátricos: Reporte de un caso / Parathyroid hormone resistance as a rare cause of late-onset hypocalcemia in pediatric patients: Case report

Objetivo: Presentar caso de niño con resistencia a la parathormona (PTH) como causa infrecuente de hipocalcemia. Caso Clínico: Preescolar masculino de 5 años de edad, cuya madre refiere inicio de sintomatología desde los tres años, caracterizada por calambres musculares en miembros superiores e inferiores frecuentes que ceden espontáneamente. Desde hace dos días refiere aumento de intensidad de síntomas, acompañados de flexión bilateral de los cuatro miembros, con dificultad para la marcha, por lo que se ingresa. Tuvo diagnóstico de hipotiroidismo subclínico a los 3 años, recibe Levotiroxina 25 μg diariamente. No antecedentes de fracturas. Examen físico: fenotipo normal, peso: 25 kg (pc>97) talla: 112 cm (pc 50-75) IMC: 20 kg/m² (pc>97): FC: 90 lpm, FR: 20 rpm. Buenas condiciones generales. Como dato positivo presenta miembros con contracción carpo-pedal y flexión de miembros inferiores, Chvostek y Trosseau +, neurológico consiente, hipertónico. Paraclínicos: calcio: 7 mg/dL, fósforo 7,2 mmol/L, PTH: 1085 pg/mL (VN: 10-67 pg/mL), albumina: 4,5 g/dL, creatinina: 0,37 mg/dL, fosfatasa alcalina: 370 mg/dL, T4L: 1,4 ng/dL, TSH: 1,22 mU/L. Se realiza el diagnóstico de Pseudohipoparatiroidismo. Se inicia tratamiento con gluconato de calcio endovenoso hasta corrección de síntomas, luego calcio y calcitriol oral con mejoría. A los 14 años de edad (nueve años posterior al diagnóstico) es revalorado: fenotipo, peso y talla normales, Chvostek y Trousseau negativos, masa ósea conservada y ultrasonido de tiroides y paratiroides sin alteraciones. Conclusión: La resistencia a la PTH representa una causa infrecuente de hipocalcemia en la edad pediátrica. El diagnóstico es clínico y paraclínico, manifestado por hipocalcemia e hiperfosfatemia con PTH elevada; el tratamiento consiste en la administración de calcio y vitamina D, para mantener los niveles de calcio y fósforo sérico en la normalidad y disminuir los niveles de PTH sérico.

Objective: To present clinical case of a boy with resistance to parathyroid hormone (PTH) as a rare cause of hypocalcemia. Case Study: Preschool 5 years old, whose mother refers onset of symptoms from the three years old characterized by frequent muscle cramps in upper and lower limbs that resolve spontaneously. Two days earlier presented accentuation of the symptoms, accompanied by bilateral flexion of the four members, with difficulty walking, so he is admitted. Diagnosis of subclinical hypothyroidism was done at 3 years old, in treatment with levothyroxine 25 μg daily. No history of fractures. Physical examination: normal phenotype, weight: 25 kg (pc> 97) height: 112 cm (pc50-75), BMI 20 kg/m² (pc> 97): FC: 90 lpm, FR: 20 rpm. Good general conditions. As positive findings shows members with carpal-pedal contraction, and bending of the lower limbs, Trousseau and Chvostek+, neurological conscious, hypertonic. Paraclinical: calcium: 7 mg/dL, phosphorus 7.2 mmol/L, PTH: 1085 pg/mL (NV: 10-67 pg/mL), albumin: 4.5 g/dL, creatinine: 0.37 mg/dL, alkaline phosphatase: 370 mg/dL, FT4: 1.4 ng/dL, TSH: 1.22 mU/L. Pseudohypoparathyroidism diagnosing is performed. Treatment with intravenous calcium gluconate to correct symptoms was initiated followed with oral calcium and calcitriol, improvement is observed. At 14 years of age (nine years after diagnosis) is reassessed: phenotype, weight and height are normal, Chvostek and Trousseau negative, bone mass preserved and thyroid and parathyroid ultrasound unchanged. Conclusion: The resistance to PTH represents a rare cause of hypocalcemia in children. The diagnosis is clinical and paraclinical demonstrating hypocalcemia and hyperphosphatemia with elevated PTH. Treatment is calcium and vitamin D to maintain normal levels of serum calcium and phosphorus and decrease serum PTH levels.

Coexistence of glucocorticoid resistance and pseudohypoparathyroidism / Coexistencia de la resistencia a glucocorticoides y el pseudohipoparatiroidismo

We report for the first time the case of a young man who developed both glucocorticoid resistance and resistance to parathyroid hormone. Treatment with high doses of dexamethasone together with administration of calcium and calcitriol resulted in a significant improvement in the patient's condition. In this paper, we discuss in detail diagnostic and treatment strategies used on the patient and the impact on the course and outcome of both disorders. We associate the development of both these disorders with a possible inherited defect in the signal pathways common to glucocorticoid and parathyroid hormone receptors.

Por primera vez se reporta el caso de un joven que desarrolló resistencia a glucocorticoides y resistencia a la hormona paratiroidea. El tratamiento con altas dosis de dexametasona, junto con la administración de calcio y calcitriol, trajo como resultado una mejoría significativa de la condición del paciente. En este papel, se analiza en detalle el diagnóstico así como las estrategias de tratamiento del paciente, y su impacto en el curso y resultado de ambos trastornos. Se concluye que el desarrollo de ambos trastornos se halla asociado a un posible defecto hereditario en las vías de transducción de señales comunes a los receptores de las hormonas glucocorticoides y las hormonas paratiroideas.

Hipocalcemia asociada a hiperfosfemia y PTH elevada: caso clínico / Hypocalcemia, vitamin D deficiency and elevated PTH levels in a patient with celiac disease: report of one case

We report a 56 years old woman that presented a severe hypocalcemia, with a serum calcium of 4.7 mg/dl, after the intake of bisphosphonates. Laboratory examination showed elevated PTH levels (167 pg/ml), hyperphosphatemia, hypomagnesemia and normal phosphate tubular reabsorption. Therefore, the diagnosis of pseudohypoparathyroidism was considered (PHP). However, further studies showed low levels of 25 OH Vitamin D (13.6 ng /ml), osteoporosis, positive anti endomysium antibodies and an endoscopic biopsy, that confirmed the presence of a celiac disease.

Pseudohipoparatiroidismo en niños, Manifestaciones clínicas e implicancias del tratamiento / Pseudohypoparathyroidism in childhood. Clinical manifestations and implications of treatment

El pseudohipoparatiroidismo es una enfermedad hereditaria caracterizada por presentar resistencia a la hormona paratiroidea que se manifiesta por hipocalcemia, hiperfosfatemia y niveles elevados de PTH. Los pacientes pueden presentar características fenotípicas de osteodistrofia hereditaria de Albright y tener asociadas otras resistencias hormonales. En este trabajo se analizan las características clínicas y bioquímicas de 13 niños afectados de la enfermedad, como así también la implicancia del tratamiento. El diagnóstico temprano, la detección oportuna de resistencias hormonales asociadas y el control periódico de los pacientes, son de relevancia para promover el crecimiento y disminuir las secuelas de la hipocalcemia (AU)

Pseudohypoparathyroidism is an hereditary disease characterized by hypocalcemia, hyperphosphatemia due to parathyroid hormone resistance. Patients may have the association of other endocrine resistances and physical characteristics termed Albright's hereditary osteodystrophy. We present here 13 patients with PHP, their clinic and biological signs, and the implication of the treatment. Early diagnosis, the study of other hormone resistances, and periodic control of the patients, are mandatory to promote a correct growth and decrease the consequences of hypocalcemia in these patients (AU)

Você conhece esta síndrome? / Do you know this syndrome?

A osteodistrofia hereditária de Albright é caracterizada por calcificações cutâneas, obesidade, baixa estatura, braquidactilia associada ao pseudo-hipoparatireoidismo do tipo IA entre outras alterações hormonais como hipotireoidismo e hipogonadismo. O diagnóstico é baseado no quadro clínico associado aos achados de hipocalcemia e níveis elevados de hormônio da paratireóide. Os autores relatam caso em que a avaliação dermatológica foi de grande contribuição para o diagnóstico.

Albright hereditary osteodystrophy is characterized by subcutaneous calcification, obesity, short stature, brachydactyly and pseudohypoparathyroidism type IA. Hypothyroidism and hypogonadism may be present. The diagnosis is based on clinical characteristics associated with hypocalcemia and high levels of parathyroid hormone. The authors report a case in which the dermatological evaluation contributed to diagnosis.