ABSTRACT
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.
Subject(s)
Humans , Male , Female , Adolescent , Young Adult , Pseudohypoparathyroidism/diagnostic imaging , Time Factors , Tomography, X-Ray ComputedABSTRACT
Introducción: La rama de genética de la Sociedad Chilena de Pediatría, en relación con el proyecto de ley que regula la despenalización de la interrupción voluntaria del embarazo en 3 causales, centrándose en la segunda causal que considera al «embrión o feto que padezca una alteración estructural congénita o genética incompatible con la vida extrauterina¼, se reunió para discutir conforme a la evidencia científica qué anomalías congénitas (AC) podrían ser incluidas en el proyecto de ley. Metodología: Los expertos en genética clínica se centraron en 10 AC. Se efectuó revisión bibliográfica y una reunión extraordinaria para discutirla. Resultados: Se acordó no emplear el término «incompatible con la vida extrauterina¼, pues existen excepciones de sobrevidas más prolongadas y cambiar por «anomalía congénita de mal pronóstico vital (ACMPV)¼. Se evaluaron 10 AC: defectos graves de cierre del tubo neural: anencefalia, iniencefalia y craneorraquisquisis, hipoplasia pulmonar, feto acardio, ectopia cordis, triploidía no mosaico, complejo limb body wall, anomalía body stalk, trisomía 13, trisomía 18 y agenesia renal bilateral. Se analizaron los hallazgos sobre prevalencia, historia natural, métodos diagnósticos prenatales, sobrevida, casos descritos de sobrevida prolongada. Para catalogarlas como ACMPV se consideraron: sobrevida posnatal, existencia de tratamientos y evolución posterior e historia natural sin intervenciones. Conclusión: Las ACMPV incluidas serían: anencefalia, hipoplasia pulmonar severa, feto acardio, ectopia cordis cervical, triploidía no mosaico, complejo limb body wall, anomalía body stalk, trisomía 13 no mosaico, trisomía 18 no mosaico y agenesia renal bilateral. Se requiere para el diagnóstico que toda mujer gestante tenga acceso a evaluaciones ecográficas de anatomía fetal, y en ocasiones a resonancia magnética y estudios citogenéticos y moleculares.
Introduction: The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law. Methodology: Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it. Results: It was agreed not to use the term "incompatible with life outside the womb", as there are exceptions and longer survivals, and change to "congenital anomaly of poor prognosis (CAPP)". Ten CA were evaluated: serious defects of neural tube closure: anencephaly, iniencephaly and craniorachischisis, pulmonary hypoplasia, acardiac foetus, ectopia cordis, non-mosaic triploidy, "limb body wall" complex, "body stalk" anomaly, trisomy 13, trisomy 18, and bilateral renal agenesis. Findings on the prevalence, natural history, prenatal diagnostic methods, survival, and reported cases of prolonged survival were analysed. Post-natal survival, existence of treatments, and outcomes, as well as natural history without intervention, were taken into account in classifying a CA as a CAPP. Conclusion: A CAPP would be: anencephaly, severe pulmonary hypoplasia, acardiac foetus, cervical ectopia cordis, non-mosaic triploidy, limb body wall complex, body stalk anomaly, non-mosaic trisomy 13, non-mosaic trisomy 18, and bilateral renal agenesis. For their diagnosis, it is required that all pregnant women have access to assessments by foetal anatomy ultrasound and occasionally MRI, and cytogenetic and molecular testing.
Subject(s)
Humans , Female , Pregnancy , Prenatal Diagnosis/methods , Congenital Abnormalities/diagnosis , Abortion, Eugenic/legislation & jurisprudence , Prognosis , Congenital Abnormalities/physiopathology , Chile , Abortion, Legal/legislation & jurisprudence , ConsensusABSTRACT
ANTECEDENTES: Las aneuploidías y malformaciones congénitas son causa importante de morbi-mortalidad perinatal e infantil en Chile. OBJETIVO: Evaluar la realidad local del diagnóstico genético antenatal para mejorar el resultado perinatal. MÉTODOS: Estudio retrospectivo y descriptivo. Se realizó amniocentesis a embarazadas con indicación de estudio genético prenatal por sospecha ecográfica de alteraciones cromo-sómicas, entre octubre de 2010 y marzo de 2015, en el Hospital Sótero del Río. RESULTADOS: Los hallazgos ecográficos más frecuentes fueron: cardiopatías congénitas, malformaciones del sistema nervioso central y restricción de crecimiento fetal precoz. 164 pacientes aceptaron el estudio invasivo antenatal, obteniéndose resultados de 154. El promedio de edad materna y edad gestacional del examen fueron 30 años y 27+3 semanas, respectivamente. En embarazos con trisomía 21 y 13, el 71% de las pacientes tenía sobre 35 años. Un 31% de las muestras presentaron cariotipo anormal, siendo la más frecuente la trisomía 21 (14%), trisomía 18 (9%), monosomía X (4,5%) y trisomía 13 (2,6%). CONCLUSIÓN: El diagnóstico genético prenatal permite un adecuado manejo perinatal, coordinación apropiada entre las unidades de Obstetricia y Neonatología, y la preparación de las pacientes y sus familias para un pronóstico perinatal adverso.
BACKGROUND: Malformations and aneuploidy are a major cause of perinatal morbidity and mortality in Chile. Invasive techniques are offered to determine the fetal karyotype, when there is an abnormal finding in the ultrasound. AIMS: To assess the local situation of prenatal genetic diagnosis to improve the management of this population. METHODS: This is a retrospective and descriptive study of patients from october 2010 to march 2015, who had an amniocentesis for genetic testing due suspected fetal malformations or aneu-ploidy. RESULTS: The sonographic findings most frequently found were: congenital heart disease, malformations of the central nervous system and early growth restrictions. 164 patients agree to perform invasive prenatal genetic, obtaining 154 results. The average maternal age was 30 years and the mean gestational age at amniocentesis was 27+3 weeks. In trisomy 21 pregnancies, 71% of patients were higher than 35 years. 31% of the samples had abnormal karyotype: trisomy 21 (14%), trisomy 18 (9%), Turner's syndrome (4.5%) and trisomy 13 (3%). CONCLUSIONS: Prenatal genetic diagnosis allows appropriate perinatal management and contributes to prepare the patient and their families for an adverse perinatal outcome.
Subject(s)
Humans , Female , Pregnancy , Adolescent , Adult , Young Adult , Prenatal Diagnosis/methods , Chromosome Disorders/diagnosis , Chromosome Disorders/genetics , Amniocentesis/methods , Aneuploidy , Trisomy/diagnosis , Trisomy/genetics , Pregnancy Outcome , Chile , Genetic Testing , Epidemiology, Descriptive , Retrospective Studies , Ultrasonography, Prenatal , Cordocentesis , Noninvasive Prenatal TestingABSTRACT
Background: With the epidemiological changes, the role of genetic factors as a cause of morbidity and mortality is increasing, changing disease patterns of patients admitted to pediatric hospitals. Aim: To describe the prevalence of genetic diseases (GD) in patients admitted to a tertiary-care hospital Pediatric Service. Material and Methods: The clinical records of consecutive admissions to a Pediatric Service of a clinical hospital in 2011 were reviewed. Two categories were assigned: with GD and without GD. Both groups were compared according to days of hospitalization, type of admission, readmissions and mortality. Results: We reviewed the 98.1% of the 1,781 total annual admissions (1,459 cases), 322 of them were readmissions (187 cases). The mean age at admission was 54.8 ± 54 months and 55% were male. The mean hospitalization length was 4.9 ± 10 days. Of total admissions and individual cases, 52.7% (938/1,781) and 48% (705/1,459) were cases with GD, respectively. Within this group, 85% (597/705) were sub-categorized as having a significant genetic base. The differences between gender, age average income and hospital mortality were not significant between the two categories. Readmissions were more common for GD than for patients without GD (Odds ratio (OR): 2.6, confidence intervals (CI): 1.9-3.6). Average hospital stay was 27% higher among GD patients (p < 0.01). Conclusions: Our findings confirm the high prevalence of GD in pediatric hospitals (52.7%), with a higher risk for readmission in cases with GD compared with those without GD.
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Genetic Diseases, Inborn/epidemiology , Hospitalization/statistics & numerical data , Patient Readmission , Tertiary Healthcare , Case-Control Studies , Chile/epidemiology , Prevalence , Risk Factors , Age Factors , Genetic Diseases, Inborn/therapy , Hospitals, PediatricABSTRACT
Background: Neurological disturbances are common problems in children with Down Syndrome (DS). Aim: To determine the prevalence of neurological disorders affecting children with Down Syndrome. Patients and Methods: Review of medical records of253 children aged from 1 day to 23 years affected with DS, attended at a public hospital and a University clinic. Results: The overall prevalence of neurological disorders was 38.7%. The most common problems were ocular motor disorders in 26% of cases and epilepsy in 12%. Conclusions: Neurological disorders are more common in children with DS than in the general population. Motor ocular disorders and epilepsy are the predominant disturbances detected.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Young Adult , Down Syndrome/epidemiology , Epilepsy/epidemiology , Nervous System Diseases/epidemiology , Ocular Motility Disorders/epidemiology , Nervous System Diseases/classification , Odds Ratio , Prevalence , Retrospective StudiesABSTRACT
An up to date discusion concerning the Turner's syndrome is done in the present article
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Infant , Child, Preschool , Adolescent , Turner Syndrome/diagnosis , Growth Hormone-Releasing Hormone/therapeutic use , Hospitals, Teaching/statistics & numerical data , Turner Syndrome/epidemiology , Turner Syndrome/genetics , Turner Syndrome/drug therapy , Signs and Symptoms , X ChromosomeABSTRACT
La reproducción humana es un proceso relativamente poco eficiente con una tasa de abortos espontáneosde alrededor de 15 por ciento en los embarazos clínicamente reconocidos. Las causa son múltiples, encontrándose una anomalía cromosómica en aproximadamente un 50 por ciento de los casos. Reportamos los resultados del estudio citogenético de 207 muestras de trofoblasto provenientes de abortos espontáneos que nos fueron enviadas durante el período comprendido entre noviembre de 1989 y abril de 1996. El cultivo fue exitoso en 134 casos; de estos, 60 fueron anormales (44,8 por ciento). Las anomalías más frecuentes fueron las trisomías autosómicas, seguidas por las poliploidías y las alteraciones estructurales. Consideramos que este tipo de estudio es altamente valioso en el diagnóstico etiológico del aborto espontáneo, permitiendo un adecuado asesoramiento de las parejas respecto a su futuro reproductivo