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.

Serum 25-hydroxyvitamin D levels throughout pregnancy: a longitudinal study in healthy and preeclamptic pregnant women.

BACKGROUND: Worldwide there is a high prevalence of 25-hydroxyvitamin D (25OHD) deficiency and has been associated with adverse outcomes during pregnancy. OBJECTIVE: This is a nested, case-control study in a longitudinal cohort to compare the serum 25OHD levels and other biomarkers throughout pregnancy in a group of 20 preeclamptic women and 61 healthy pregnant women. An additional group of 29 healthy non-pregnant women were also studied during the two phases of the menstrual cycle. RESULTS: Mean 25OHD levels in non-pregnant women were 31.9 ng/mL and 34.9 ng/mL during follicular and luteal phase, respectively (P < 0.01). Mean serum 25OHD levels in healthy pregnant women were 26.5, 30.1 and 31.9 ng/mL, at first, second and third trimester, respectively (P < 0.001). The first trimester levels of 25OHD were lower than those of healthy non-pregnant women (P < 0.001), showing a significant recovery at third trimester. In the group of healthy pregnant women, the 25OHD levels were 25.7 ng/mL and 27.2 ng/mL at 3 and 6 months postpartum, respectively; both values were lower than those observed in the non-pregnant women (P < 0.001). In preeclamptic women, 25OHD serum levels were similar to those of healthy pregnant women; nevertheless, they remained almost unchanged throughout pregnancy. CONCLUSION: There were no significant differences between healthy and preeclamptic pregnant women in terms of 25OHD levels throughout the pregnancy. Serum 25OHD levels in non-pregnant women were higher during luteal phase compared with follicular phase. The 25OHD levels of non-pregnant women tended to be higher than those of pregnant women.

Serum Galanin Levels in Young Healthy Lean and Obese Non-Diabetic Men during an Oral Glucose Tolerance Test.

Galanin (GAL) is a neuropeptide involved in the homeostasis of energy metabolism. The objective of this study was to investigate the serum levels of GAL during an oral glucose tolerance test (OGTT) in lean and obese young men. This cross-sectional study included 30 obese non-diabetic young men (median 22 years; mean BMI 37 kg/m(2)) and 30 healthy lean men (median 23 years; mean BMI 22 kg/m(2)). Serum GAL was determined during OGTT. The results of this study include that serum GAL levels showed a reduction during OGTT compared with basal levels in the lean subjects group. Conversely, serum GAL levels increased significantly during OGTT in obese subjects. Serum GAL levels were also higher in obese non-diabetic men compared with lean subjects during fasting and in every period of the OGTT (p < 0.001). Serum GAL levels were positively correlated with BMI, total fat, visceral fat, HOMA-IR, total cholesterol, triglycerides and Leptin. A multiple regression analysis revealed that serum insulin levels at 30, 60 and 120 minutes during the OGTT is the most predictive variable for serum GAL levels (p < 0.001). In conclusion, serum GAL levels are significantly higher in the obese group compared with lean subjects during an OGTT.

Case studies of two families with MIDD and MELAS: heteroplasmy level in m. 3243A>G mutation and the first report on m.3271T>C mutation in Colombia / Dos familias con midd y melas: nivel de heteroplasmia de la mutación m. 3243a>g y primer reporte de la mutación m.3271t>c en colombia

MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) and MIDD syndrome (maternally inherited diabetes and deafness) are mitochondrial diseases caused in most cases by the same mutation m.3243A> G, which affects the gene MT-TL1. The cases of two families with MELAS are presented here. In the first case, the m.3243A>G mutation was detected and the heteroplasmy level in blood, urine and oral mucosa were determined, finding a great phenotypic variability: the patient had higher heteroplasmy in the three tissues compared against oligosymptomatic relatives, and the mother had high blood sugar levels and hearing loss, suggesting a phenotype near to MIDD. In the second family, the m.3271T>C mutation was detected, which constitutes the first case reported in Colombia. These findings suggest that MIDD and MELAS, often described as distinct entities, are part of the same entity with variable expressivity partially depending on heteroplasmy.

El síndrome MELAS (encefalomiopatía mitocondrial, acidosis láctica y episodios similares a isquemia cerebral) y el síndrome MIDD (diabetes y sordera de herencia materna) son enfermedades mitocondriales producidas en la mayor parte de los casos por una misma mutación: la m.3243A>G que afecta al gen MT-TL1. Se presentan los casos de dos familias con MELAS. En la primera se detecta la mutación m.3243A>G y se determina el nivel de heteroplasmia en sangre, orina y mucosa oral, con lo que se evidencia una gran variabilidad fenotípica: la paciente tenía una mayor heteroplasmia en los tres tejidos en comparación con sus familiares oligosintomáticos y la madre tenía una glicemia elevada e hipoacusia, sugiriendo un fenotipo cercano al MIDD. En la segunda familia se detecta la mutación m.3271T>C, siendo el primer caso reportado en Colombia. Estos hallazgos sugieren que el MIDD y el MELAS, descritos frecuentemente como entidades distintas, hacen parte de una misma entidad con expresividad variable dependiendo en parte de la heteroplasmia.