Objective
Biochemical suspicion of familial hypocalciuric hypercalcemia (FHH) might provide with a negative (FHH-negative) or positive (FHH-positive) genetic result. Understanding the differences ...between both groups may refine the identification of those with a positive genetic evaluation, aid management decisions and prospective surveillance. We aimed to compare FHH-positive and FHH-negative patients, and to identify predictive variables for FHH-positive cases.
Design
Retrospective, national multi-centre study of patients with suspected FHH and genetic testing of the
CASR
,
AP2S1
and
GNA11
genes.
Methods
Clinical, biochemical, radiological and treatment data were collected. We established a prediction model for the identification of FHH-positive cases by logistic regression analysis and area under the ROC curve (AUROC) was estimated.
Results
We included 66 index cases, of which 30 (45.5%) had a pathogenic variant. FHH-positive cases were younger (
p
= 0.029), reported more frequently a positive family history (
p
< 0.001), presented higher magnesium (
p
< 0.001) and lower parathormone levels (
p
< 0.001) and were less often treated for hypercalcemia (
p
= 0.017) in comparison to FHH-negative cases. Magnesium levels showed the highest AUROC (0.825, 95%CI: 0.709–0.941). The multivariate analysis revealed that family history and magnesium levels were independent predictors of a positive genetic result. The predictive model showed an AUROC of 0.909 (95%CI: 0.826–0.991).
Conclusions
The combination of magnesium and a positive family history offered a good diagnostic accuracy to predict a positive genetic result. Therefore, the inclusion of magnesium measurement in the routine evaluation of patients with suspected FHH might provide insight into the identification of a positive genetic result of any of the CaSR-related genes.
11-deoxycorticosterone overproduction due to an adrenal tumor or hyperplasia is a very rare cause of mineralocorticoid-induced hypertension. The objective is to provide the most relevant clinical ...features that clinicians dealing with patients presenting with the hallmarks of hypertension due to 11-deoxycorticosterone-producing adrenal lesions should be aware of.
We report the case of a patient with an 11-deoxycorticosterone-producing adrenal lesion and provide a systematic review of all published cases (PubMed, Web of Science and EMBASE) between 1965 and 2021.
We identified 46 cases (including ours). Most cases (31, 67%) affected women with a mean age of 42.9 ± 15.2 years and presented with high blood pressure and hypokalemia (average of 2.68 ± 0.62 mmol/L). Median (interquartile range) time from onset of first suggestive symptoms to diagnosis was 24 (55) months. Aldosterone levels were low or in the reference range in 98% of the cases when available. 11-deoxycorticosterone levels were a median of 12.5 (18.9) times above the upper limit of the normal reference range reported in each article and overproduction of more than one hormone was seen in 31 (67%). Carcinoma was the most common histological type (21, 45.7%). Median tumor size was 61.5 (60) mm. Malignant lesions were larger, had higher 11-deoxycorticosterone levels and shorter time of evolution at diagnosis compared to benign lesions.
11-deoxycorticosterone-producing adrenal lesions are very rare, affecting mostly middle-aged women with a primary aldosteronism-like clinical presentation and carcinoma is the most frequent histological diagnosis. Measuring 11-deoxycorticosterone levels, when low aldosterone levels or in the lower limit of the reference range are present in hypertensive patients, is advisable.
Open Science Framework, 10.17605/OSF.IO/NR7UV.
Purpose
Gestational weight gain (GWG) is an important contributor to pregnancy outcomes in the general obstetric population and different subgroups. The corresponding information in women with ...thyroid conditions is limited. We aimed to evaluate the relationship between GWG according to institute of medicine (IOM) and pregnancy outcomes in women with thyroid disorders.
Methods
We performed a retrospective analysis of 620 pregnant women either treated with levothyroxine (
N
= 545) or attended because of hyperthyroidism during pregnancy (
N
= 75).
Results
The associations between GWG according to IOM and pregnancy outcomes were present both in women treated with thyroid hormone and women followed by hyperthyroidism, most of them related to the fetal outcomes. In women treated with levothyroxine, insufficient GWG was associated with gestational diabetes mellitus (GDM) (odds ratio (OR) 2.32, 95% confidence interval (CI) 1.18, 4.54), preterm birth (OR 2.31, 95% CI 1.22, 4.36), small-for-gestational age newborns (OR 2.38, 95% CI 1.09, 5.22) and respiratory distress (OR 6.89, 95% CI 1.46, 32.52). Excessive GWG was associated with cesarean delivery (OR 1.66, 95% CI 1.10, 2.51) and macrosomia (OR 2.75, 95% CI 1.38, 5.49). Large-for-gestational age newborns were associated with both insufficient GWG (OR 0.25, 95% CI 0.11, 0.58) and excessive GWG (OR 1.80, 95% CI 1.11, 2.92). In women followed by hyperthyroidism, excessive GWG was associated with large-for-gestational age newborns (OR 5.56, 95% CI 1.03, 29.96).
Conclusion
GWG according to IOM is associated with pregnancy outcomes both in women treated with thyroid hormone and women followed by hyperthyroidism.
To investigate the impact of pituitary surgery on glucose metabolism and to identify predictors of remission of diabetes after pituitary surgery in patients with acromegaly.AIMTo investigate the ...impact of pituitary surgery on glucose metabolism and to identify predictors of remission of diabetes after pituitary surgery in patients with acromegaly.A national multicenter retrospective study of patients with acromegaly undergoing transsphenoidal surgery for the first time at 33 tertiary Spanish hospitals (ACRO-SPAIN study) was performed. Surgical remission of acromegaly was evaluated according to the 2000 and 2010 criteria.METHODSA national multicenter retrospective study of patients with acromegaly undergoing transsphenoidal surgery for the first time at 33 tertiary Spanish hospitals (ACRO-SPAIN study) was performed. Surgical remission of acromegaly was evaluated according to the 2000 and 2010 criteria.A total of 604 acromegaly patients were included in the study with a total median follow up of 91 months (interquartile range IQR 45-163). At the acromegaly diagnosis, 23.8% of the patients had diabetes mellitus (DM) with a median glycated hemoglobin (HbA1c) of 6.9% (IQR 6.4-7.9) 51.9 mmol/mol (IQR 46.4-62.8). In the multivariate analysis, older age (odds ratio OR 1.02, 95% CI 1.00-1.05), dyslipidemia (OR 5.25, 95% CI 2.81 to 9.79), arthropathy (OR 1.39, 95% CI 2.82 to 9.79), and higher IGF-I levels (OR 1.30, 95% CI 1.05 to 1.60) were associated with a greater prevalence of DM. At the last follow-up visit after surgery, 21.1% of the DM patients (56.7% of them with surgical remission of acromegaly) experienced diabetes remission. The cure rate of DM was more common in older patients (hazard ratio HR 1.77, 95% CI 1.31 to 2.43), when surgical cure was achieved (HR 2.10, 95% CI 1.01 to 4.37) and when anterior pituitary function was not affected after surgery (HR 3.38, 95% CI 1.17 to 9.75).RESULTSA total of 604 acromegaly patients were included in the study with a total median follow up of 91 months (interquartile range IQR 45-163). At the acromegaly diagnosis, 23.8% of the patients had diabetes mellitus (DM) with a median glycated hemoglobin (HbA1c) of 6.9% (IQR 6.4-7.9) 51.9 mmol/mol (IQR 46.4-62.8). In the multivariate analysis, older age (odds ratio OR 1.02, 95% CI 1.00-1.05), dyslipidemia (OR 5.25, 95% CI 2.81 to 9.79), arthropathy (OR 1.39, 95% CI 2.82 to 9.79), and higher IGF-I levels (OR 1.30, 95% CI 1.05 to 1.60) were associated with a greater prevalence of DM. At the last follow-up visit after surgery, 21.1% of the DM patients (56.7% of them with surgical remission of acromegaly) experienced diabetes remission. The cure rate of DM was more common in older patients (hazard ratio HR 1.77, 95% CI 1.31 to 2.43), when surgical cure was achieved (HR 2.10, 95% CI 1.01 to 4.37) and when anterior pituitary function was not affected after surgery (HR 3.38, 95% CI 1.17 to 9.75).Glucose metabolism improved in patients with acromegaly after surgery and 21% of the diabetic patients experienced diabetes remission; being more frequent in patients of older age, and those who experienced surgical cure and those with preserved anterior pituitary function after surgery.CONCLUSIONGlucose metabolism improved in patients with acromegaly after surgery and 21% of the diabetic patients experienced diabetes remission; being more frequent in patients of older age, and those who experienced surgical cure and those with preserved anterior pituitary function after surgery.
