11beta-Hydroxylase deficiency is a common form of congenital adrenal hyperplasia causing virilization of the female fetus and hypertension. DNA analysis of the gene (CYP11B1) encoding 11beta-hydroxylase has been reported previously to be effective in the prenatal diagnosis of one affected female fetus. In that case, prenatal treatment with dexamethasone resulted in normal female genitalia. We now report five new pregnancies that underwent prenatal diagnosis for 11beta-hydroxylase deficiency. In the first family, the proband is homozygous for a T318M mutation and all fetuses from four subsequent pregnancies are carriers. In a second family, the mother is homozygous for a A331V mutation and was started on dexamethasone, but identification of a homozygous normal fetus led to the discontinuation of treatment. In another family, the fetus was a male homozygous for R384Q and treatment was discontinued. Lastly, a novel G444D mutation in exon 8 was identified and proven to reduce 11beta-hydroxylase activity.

SummaryChromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age.Learning points:It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery.A new diagnosis of a hereditary disease has familial implications and needs genetic counselling.It is also important to discard other syndrome’s comorbidities.

Objective: Global thyroid cancer (TC) incidence is growing worldwide, but great heterogenicity exists among published studies and thus, population-specific epidemiological studies are needed to adequate health resources and evaluate impact of overdiagnosis. Methods: We conducted a Public Health System database retrospective review of TC incident cases from 2000 to 2020 in the Balearic Islands region and evaluated age-standardized incidence (ASIR), age at diagnosis, gender distribution, tumor size and histological subtype, mortality rate (MR) and cause of death. Estimated annual percent changes (EAPCs) were also evaluated and data from the 2000-2009 period was compared to the 2010-2020, when neck ultrasound (US) was routinely performed by clinicians at Endocrinology Departments. Results: A total of 1,387 incident cases of TC were detected. Overall, ASIR (x105) was 5.01 with a 7.82% increment in EAPC. A significant increase in the 2010-2020 period was seen for ASIR (6.99 vs. 2.82, p<0.001) and age at diagnosis (52.11 vs. 47.32, p<0.001) compared to the 2000-2009 period. A reduction in tumor size (2.00 vs 2.78 cm, p<0,001) and a 6.31% increase in Micropapillary TC (p<0.05) were also seen. Disease-specific MR remained stable at 0.21 (x105). Mean age at diagnosis for all mortality groups was older than survivors (p<0.001). Conclusion: Incidence of TC has grown in the 2000-2020 period in the Balearic Islands, but mortality rate has not changed. Beyond other factors, a significant contribution of overdiagnosis to this increased incidence is likely, due to changes in the routine management of thyroid nodular disease and increased availability of neck US.

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