responsible for figures and legends; A Lomas conducted the article review; R P Quilez and F Botella conducted the literature review, and A Grossman was responsible for manuscript construction and advice. References Spanish Society of Endocrinology
I Huguet, C Lamas, R Vera, A Lomas, R P Quilez, A Grossman, and F Botella
Gemma Xifra, Silvia Mauri, Jordi Gironès, José Ignacio Rodríguez Hermosa, Josep Oriola, Wifredo Ricart, and José Manuel Fernández-Real
initiation in mice . PNAS . 108 : 1615 – 1620 .( doi:10.1073/pnas.1015557108 ) † J M Fernández-Real is now at Unit of Diabetes, Endocrinology and Nutrition, Hospital de Girona ‘Dr Josep Trueta’, Carretera de França s/n, 17007 Girona, Spain
María Clemente, Alejandro Vargas, Gema Ariceta, Rosa Martínez, Ariadna Campos, and Diego Yeste
.00029 ) 2 Carrascosa Lezcano A Fernández García JM Fernández Ramos C Ferrández Longás A López-Siguero JP Sánchez González E Sobradillo Ruiz B Yeste Fernández D 2008 Grupo Colaborador Español. Spanish cross-sectional growth
Anna Casteràs, Jürgen Kratzsch, Ángel Ferrández, Carles Zafón, Antonio Carrascosa, and Jordi Mesa
. IGHD type IA (IGHDIA) is characterized by a complete lack of GH production and exhibits the most severe phenotype. The syndrome was first described in 1970 in a group of six patients including a Spanish boy who is the main subject of the case report
E Mogas, A Campos-Martorell, M Clemente, L Castaño, A Moreno-Galdó, D Yeste, and A Carrascosa
. Case 1 presentation A 13-year-old male from Senegal underwent a medical examination at his arrival in Spain. There was no personal or familial history of pathology related to hypercalcemia. Physical examination showed weight at 26 kg (−2.7 SDS
Mauro Boronat, Rosa M Sánchez-Hernández, Julia Rodríguez-Cordero, Angelines Jiménez-Ortega, and Francisco J Nóvoa
Treatment with continuous s.c. insulin infusion (CSII) provides better glycemic control and lower risk of hypoglycemia than conventional therapy with multiple daily insulin injections. These benefits have been related to a more reliable absorption and an improved pharmacokinetic profile of insulin delivered through CSII therapy. However, even for patients treated with CSII, exaggerated postmeal hyperglycemic excursions and late postabsorptive hypoglycemia can still constitute a therapeutic challenge. Two female patients with type 1 diabetes who began treatment with CSII required to increase their previous breakfast insulin-to-carbohydrate ratio in order to achieve postprandial glycemic goals. However, they simultaneously presented recurrent episodes of late hypoglycemia several hours after breakfast bolus. Advancing the timing of the bolus was ineffective and bothersome for patients. In both cases, the best therapeutic option was to set a basal insulin rate of zero units per hour during 6 h after breakfast. Even so, they need to routinely take a midmorning snack with 10–20 g of carbohydrates to avoid late postabsorptive hypoglycemia. They have been using this insulin schedule for about 3 years without complications. The action of prandial insulin delivered through insulin pumps can be inappropriately delayed for the requirements of some patients. Although suspension of basal rate can be an acceptable therapeutic alternative for them, these cases demonstrate that new strategies to improve the bioavailability of prandial insulin infused through CSII are still needed.
- CSII remains the most physiologically suitable system of insulin delivery available today.
- Additionally, the duration of action of prandial insulin delivered through insulin pumps can be excessively prolonged in some patients with type 1 diabetes.
- These patients can present recurrent late episodes of hypoglycemia several hours after the administration of insulin boluses.
- The routine suspension of basal insulin for several hours, leaving meal bolus to cover both prandial and basal insulin requirements, can be a therapeutic option for these subjects.
Fernando Gomez-Peralta, Pablo Velasco-Martínez, Cristina Abreu, María Cepeda, and Marta Fernández-Puente
Methimazole (MMI) and propylthiouracil (PTU) are widely used antithyroid drugs (ATD) that have been approved for the treatment of hyperthyroidism. Hepatotoxicity may be induced by these drugs, though they exert dissimilar incidence rates of hepatotoxicity and, possibly, with different underlying pathogenic mechanisms. We report the case of a 55-year-old woman with no relevant medical history diagnosed with hyperthyroidism due to Graves’ disease, who developed two episodes of acute hepatitis concurrent with the consecutive administration of two different ATDs, first MMI and then PTU. Given the impossibility of administering ATDs, it was decided to perform a total thyroidectomy because the patient was found to be euthyroid at that point. Pathological anatomy showed diffuse hyperplasia and a papillary thyroid microcarcinoma of 2 mm in diameter. Subsequent clinical check-ups were normal. This case suggests the importance of regular monitoring of liver function for hyperthyroid patients. Due to the potential severity of this side effect, it is recommended to determine baseline liver function prior to initiation of treatment.
- We present a rare case of two acute hepatitis episodes concurrent with two different consecutive ATD therapies.
- Our results highlight the relevance of a liver function monitoring during the treatment with MMI or PTU.
- A baseline assessment of the liver function before starting an ATD treatment should be recommendable.
Ismael Capel, Elisabet Tasa-Vinyals, Albert Cano-Palomares, Irene Bergés-Raso, Lara Albert, Mercedes Rigla, and Assumpta Caixàs
Takotsubo cardiomyopathy (TC) is an atypical, severe but reversible form of acute heart insufficiency. It typically presents with left ventricular failure, transient apical and mid-segments hypokinesis, absence of significant coronary stenosis and new electrographic abnormalities and/or elevation in serum cardiac enzymes. Although TC (‘broken heart syndrome’) has classically been associated with emotional trauma, evidence suggests that other precipitants might exist, including iatrogenic and thyroid-mediated forms. Thyroid disease is a relatively common comorbidity in TC patients. We report a case of TC in a postmenopausal female with no history of emotional trauma or other potential precipitant factors who was diagnosed with amiodarone-induced hyperthyroidism during her hospital stay. Though some case reports of thyroid-related TC exist, we are not aware of any other reported case of TC precipitated by amiodarone-induced hyperthyroidism.
- TC is a relatively new, rare, transient, severe, but reversible cardiovascular condition that is characterized by an acute left ventricular cardiac failure, which can clinically, analytically and electrocardiographically mimic an acute myocardial infarction.
- Many precipitant factors have been described in TC, being the most classical and emotional trauma. However, thyroid dysfunction is also a significant condition frequently found in patients with TC.
- A hypercatecholaminergic state leading to cardiomyocyte damage has been established as the main fact of TC physiopathology. Hyperthyroidism induces an upregulation of β-adrenergic receptors.
- Both hyperthyroidism and hypothyroidism have been related with TC development. Most reported cases of TC involving thyroid dysfunction correspond to hyperthyroidism due to Graves–Basedow disease, but there are also descriptions with severe hypothyroidism, radioiodine treatment or thyroid surgery.
- Amiodarone is a class III antiarrhythmic agent widely used, and it is a well-known cause of thyroid dysfunction, which can present either with hypothyroidism or hyperthyroidism, as approximately 40 percent of the amiodarone molecule is composed of iodine.
- In this case, a type II amiodarone-induced hyperthyroidism was the precipitant factor of a TC in a patient with a pre-existing atrial fibrillation. Given the high prevalence of atrial fibrillation and the wide use of amiodarone, the risk of this iatrogenic effect should be taken into account.
Marta Araujo Castro, Ainhoa Abad López, Luz Martín Fragueiro, and Nuria Palacios García
The 85% of cases of primary hyperparathyroidism (PHPT) are due to parathyroid adenomas (PA) and less than 1% to parathyroid carcinomas (PC). The PA usually measure <2 cm, weigh <1 g and generate a mild PHPT, whereas the PC usually exceeds these dimensions and are associated with a severe PHPT. However, giant PA (GPA), which is defined as those larger than 3 g, has been documented. Those may be associated with very high levels of PTH and calcium. In these cases, their differentiation before and after surgery with PC is very difficult. We present a case of severe PHPT associated with a large parathyroid lesion, and we discuss the differential aspects between the GPA and PC.
- In parathyroid lesions larger than 2 cm, the differential diagnosis between GPA and PC should be considered.
- Pre and postsurgical differentiation between GPA and PC is difficult; however, there are clinical, analytical and radiographic characteristics that may be useful.
- The depth/width ratio larger or smaller than 1 seems to be the most discriminatory ultrasound parameter for the differential diagnosis.
- Loss of staining for parafibromin has a specificity of 99% for the diagnosis of PC.
- The simultaneous presence of several histological characteristics, according to the classification of Schantz and Castleman, is frequent in PC and rare in GPA.
Alejandro García-Castaño, Leire Madariaga, Sharona Azriel, Gustavo Pérez de Nanclares, Idoia Martínez de LaPiscina, Rosa Martínez, Inés Urrutia, Aníbal Aguayo, Sonia Gaztambide, and Luis Castaño
Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion and inappropriately normal or mildly elevated parathyroid hormone (PTH) concentrations. We performed a clinical and genetic characterization of one patient suspected of familial hypocalciuric hypercalcemia type I. Patient presented persistent hypercalcemia with normal PTH and 25-hydroxyvitamin D levels. The CASR was screened for mutations by PCR followed by direct Sanger sequencing and, in order to detect large deletions or duplications, multiplex ligation-dependent probe amplification (MLPA) was used. One large deletion of 973 nucleotides in heterozygous state (c.1733-255_2450del) was detected. This is the first large deletion detected by the MLPA technique in the CASR gene.
- Molecular studies are important to confirm the differential diagnosis of FHH from primary hyperparathyroidism.
- Large deletions or duplications in the CASR gene can be detected by the MLPA technique.
- Understanding the functional impact of the mutations is critical for leading pharmacological research and could facilitate the therapy of patients.