ABSTRACT
No disponible
Subject(s)
Humans , Female , Pregnancy , Infant , Endocrinology/ethics , Endocrinology/methods , Breast Feeding , Prolactinoma/diagnosis , Prolactinoma/metabolism , Hyperthyroidism/diagnosis , Hyperthyroidism/metabolism , Diabetes Mellitus/diagnosis , Diabetes Mellitus/metabolism , Endocrinology/classification , Endocrinology/standards , Breast Feeding/methods , Prolactinoma/classification , Prolactinoma/complications , Hyperthyroidism/complications , Diabetes Mellitus/classificationSubject(s)
Breast Feeding , Endocrine System Diseases/drug therapy , Lactation , Breast Feeding/adverse effects , Bromocriptine/adverse effects , Bromocriptine/pharmacokinetics , Bromocriptine/therapeutic use , Contraindications , Diabetes Mellitus, Type 2/prevention & control , Diet, Diabetic , Dopamine Agonists/adverse effects , Dopamine Agonists/pharmacokinetics , Dopamine Agonists/therapeutic use , Endocrine System Diseases/physiopathology , Estrogens/blood , Female , Humans , Hyperprolactinemia/etiology , Hyperprolactinemia/physiopathology , Hypoglycemic Agents/adverse effects , Hypoglycemic Agents/classification , Hypoglycemic Agents/pharmacokinetics , Hypoglycemic Agents/therapeutic use , Hypopituitarism/drug therapy , Hypopituitarism/physiopathology , Infant , Infant, Newborn , Insulin/adverse effects , Insulin/pharmacokinetics , Insulin/therapeutic use , Lactation/physiology , Milk, Human/chemistry , Pituitary Neoplasms/complications , Pituitary Neoplasms/drug therapy , Pituitary Neoplasms/physiopathology , Pregnancy , Pregnancy Complications/drug therapy , Pregnancy in Diabetics/drug therapy , Pregnancy in Diabetics/physiopathology , Prolactin/deficiency , Prolactinoma/complications , Prolactinoma/drug therapy , Prolactinoma/physiopathology , Puerperal Disorders/drug therapy , Puerperal Disorders/physiopathology , Thyroid Diseases/drug therapy , Thyroid Diseases/physiopathologyABSTRACT
No disponible
Subject(s)
Humans , Female , Middle Aged , Carcinoid Tumor/diagnosis , Teratoma/diagnosis , Ovarian Neoplasms/diagnosis , Metanephrine/analysis , Normetanephrine/analysis , Hydroxyindoleacetic Acid/analysisSubject(s)
Carcinoid Tumor , Neoplasms, Multiple Primary , Ovarian Neoplasms , Teratoma , Carcinoid Tumor/diagnosis , Carcinoid Tumor/therapy , Female , Humans , Middle Aged , Neoplasms, Multiple Primary/diagnosis , Neoplasms, Multiple Primary/therapy , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/therapy , Teratoma/diagnosis , Teratoma/therapyABSTRACT
Tradicionalmente se ha pensado que las pruebas bioquímicas del metabolismo fosfocálcico permiten diferenciar el hiperparatiroidismo primario (HPT1) y la hipercalcemia hipocalciúrica familiar (HHF) pero hay casos de difícil diagnóstico incluso para clínicos experimentados. Nos planteamos como objetivo evaluar la validez de las pruebas diagnósticas de la HHF así como la correcta indicación del estudio genético. Pacientes y métodos Hemos realizado un estudio descriptivo de 2 familias con hipercalcemia y sospecha de HHF de características atípicas. En orina de 24h hemos valorado los índices de excreción urinaria de calcio (eliminación de calcio [CE], cociente calcio/creatinina [CR] y cociente aclaramiento de calcio/aclaramiento de creatinina [CCCR]), junto con las concentraciones séricas de PTH y 25 hidroxivitamina D. A los casos índices se les realizó el estudio genético. Resultados Una paciente presentó hipercalciuria franca y persistente con valores más concordantes con HPT1 que de HHF si consideramos, como proponen las guías, un CCCR inferior a 0,01 como indicativo de HHF y superior a 0,02 como HPT1. Al caso índice de la segunda familia se le extirpó un adenoma de paratiroides. En ambos casos índice, encontramos la misma mutación c. 164C>T (p.Pro55Leu) en el exón 2 en heterocigosis descrita como responsable de HHF. Conclusiones El diagnóstico definitivo de HHF en las guías clínicas actuales requiere confirmación genética, lo cual ha permitido en nuestro caso la detección de 2 familias con HHF y características clínicas atípicas. En nuestra opinión el uso racional de estas pruebas ante la sospecha de HFF puede evitar intervenciones quirúrgicas innecesarias y gastos excesivos en su monitorización (AU)
Objectives: Biochemical tests related to calcium and phosphorus metabolism have traditionally been considered as a reliable tool to differentiate familial hypocalciuric hypercalcemia (FHH) from primary hyperparathyroidism (PHPT). However, diagnosis may sometimes be difficult even for experienced clinicians. Our objective was to assess the accuracy of diagnostic tests in FHH and the circumstances in which genetic studies are required. Patients and methods: A descriptive study was conducted of two families with hypercalcemia and suspected atypical FHH. Urinary calcium excretion was measured in 24-hour urine using different tests (calcium excretion (CE), urinary calcium/creatinine clearance ratio (UCCR)),and serum PTH and 25-hydroxyvitamin D levels were tested. Index cases underwent genetic study. Results: One patient from the first family showed overt, persistent hypercalciuria with values more consistent with PHPT than with FHH if we consider, as proposed by guidelines, a UCCR lower than 0.01 as diagnostic of FHH and a value higher than 0.02 as diagnostic of PHPT. The index case of the second family underwent surgery for a parathyroid adenoma. Both cases had a mutation c. 164C>T (Pro55Leu) in exon 2 in heterozygosis. Conclusions: According to current clinical guidelines, definitive diagnosis of FHH requires genetic confirmation, which allowed in our case for detection of two families with FHH and atypicalclinical presentations. We think that rational use of genetic tests may avoid unnecessary surgery and excess monitoring costs (AU)
Subject(s)
Humans , Hypercalcemia/genetics , Hypercalciuria/genetics , Epidemiology, Descriptive , Genetic Predisposition to Disease , Hyperparathyroidism, Primary/geneticsABSTRACT
OBJECTIVES: Biochemical tests related to calcium and phosphorus metabolism have traditionally been considered as a reliable tool to differentiate familial hypocalciuric hypercalcemia (FHH) from primary hyperparathyroidism (PHPT). However, diagnosis may sometimes be difficult even for experienced clinicians. Our objective was to assess the accuracy of diagnostic tests in FHH and the circumstances in which genetic studies are required. PATIENTS AND METHODS: A descriptive study was conducted of two families with hypercalcemia and suspected atypical FHH. Urinary calcium excretion was measured in 24-hour urine using different tests (calcium excretion (CE), urinary calcium/creatinine clearance ratio (UCCR)), and serum PTH and 25-hydroxyvitamin D levels were tested. Index cases underwent genetic study. RESULTS: One patient from the first family showed overt, persistent hypercalciuria with values more consistent with PHPT than with FHH if we consider, as proposed by guidelines, a UCCR lower than 0.01 as diagnostic of FHH and a value higher than 0.02 as diagnostic of PHPT. The index case of the second family underwent surgery for a parathyroid adenoma. Both cases had a mutation c. 164C>T (Pro55Leu) in exon 2 in heterozygosis. CONCLUSIONS: According to current clinical guidelines, definitive diagnosis of FHH requires genetic confirmation, which allowed in our case for detection of two families with FHH and atypical clinical presentations. We think that rational use of genetic tests may avoid unnecessary surgery and excess monitoring costs.