Summary Hypoparathyroidism is characterized by low or inappropriately normal parathormone production, hypocalcemia and hyperphosphatemia. Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-sensing receptor (CASR) gene. Current treatments for ADH type 1 include supplementation with calcium and active vitamin D. We report a case of hypoparathyroidism in an adolescent affected by syncope without prodrome. The genetic testing revealed a variant in the CASR gene. Due to standard therapy ineffectiveness, the patient was treated with recombinant human parathyroid hormone (1–34), magnesium aspartate and calcitriol. He remained asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to achieve clinical stability. Learning points Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-sensing receptor (CASR) gene. The variant c.368T>C (p.Leu123Ser) in heterozygosity in the CASR gene is likely pathogenic and suggests the diagnosis of ADH type 1. Teriparatide (recombinant human parathyroid hormone 1–34) may be a valid treatment option to achieve clinical stability for those individuals whose condition is poorly controlled by current standard therapy.

Introduction: Adrenocortical carcinoma (AAC) is a rare and aggressive disease, associated with a poor prognosis. Surgery with complete resection (R0) remains the only curative treatment. However, even after complete resection, most patients present with distant metastatic disease. The aim of this study is to determine clinical and pathological features of metastatic disease in AAC. Materials and methods: Retrospective cohort study in 34 patients with AAC followed in our centre since 1991 until 2019. Selected patients with metastatic disease (n=21) and without metastatic disease (=13). Descriptive and comparative data analyses. Statistics: SPSS®v.23, with the variables: age, sex, clinical signs and symptoms, hormonal activity, imaging and pathological characteristics, surgical procedure, postoperative adjuvant treatments and overall survival. Results: 27 (79%) female and 7 (21%) male patients were included in our study, with a median age of 50 ± 13 years at the time of diagnosis. 21 patients (61,2%) presented with metastatic disease (38% of witch at the time of diagnosis) representing the metastatic disease group. 13 (38,8%) patients had no metastases until the collected data (group without metastatic disease). In the comparative analyses between the two groups, patients with metastatic disease had significantly more laparotomy procedures (71,2% n=15 vs 15,4% n=2; p<0,05), bigger tumours (≥ 12cm) (52,4% n=11 vs 23% n=3; p<0,05) and higher Ki67 (34,18% vs 1%, p<0,05). Postoperatively, the metastatic group had higher LDH (LDH at 6 months) (582 ± 502 vs 181 ± 47; p<0,05) and lower overall survival (months) (22,9 ± 4,69 vs 237,16 ± 44,42; p<0,05). Patients with metastatic disease had more constitutional symptoms (weight loss and asthenia) (33,3% n = 7 vs 15,4% n = 2; p = 0.092) and incomplete surgical recessions (R1/R2) (42,8% n = 9 vs 15,4% n = 2; p=0.18), however, without statistical significance. There were no differences regarding: age, sex, hormonal activity, imaging characteristics and post-surgical medical treatment. Conclusion: In this study, the adrenocortical carcinoma metastasis rate was 61,2% with an overall survival of 23 months in the metastatic group. Laparotomy surgeries, tumour size ≥12cm and higher KI67 are features significantly associated with metastatic disease in adrenocortical carcinoma. Constitutional symptoms and incomplete surgical recessions are more common in metastatic patients, however without statistical significance, in this cohort. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. Abstracts presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.

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Background: Thyroid dysfunction is the most common endocrine disorder in women of childbearing age, and is associated with menstrual irregularities, anovulation and infertility. Whether it is thyroid function, thyroid autoimmunity (AI) or both that affects functional ovarian reserve remains to be clarified. The aim of this study was to evaluate the association between functional ovarian reserve and thyroid AI in women with infertility in euthyroidism.Methods: retrospective study of women with infertility, in euthyroidism, followed in a Human Reproduction Department, between May 2016 and January 2020. TSH, anti-thyroid peroxidase (TPO) antibodies, anti-thyroglobulin (TG) antibodies were measured. Functional ovarian reserve was assessed by anti-Müllerian hormone (AMH) levels with antral follicle count (AFC) performed by endovaginal ultrasound. Women with at least one of the following criteria were excluded: prior thyroidectomy, radioactive iodine treatment, cervical surgery/radiotherapy, oophorectomy, malignant/autoimmune pathology, chronic kidney disease, liver disease, polycystic ovary syndrome, current pregnancy and current medication with levothyroxine, methimazole or propylthiouracil. Results with p<0.05 were considered statistically significant.Results: 730 women were evaluated, with mean age of 34.9±3.9 years, with positive thyroid AI (≥ 1 positive antibody) present in 14.8% of cases. Anti-TPO antibodies were positive in 11.0% of patients and anti-TG antibodies in 7.0%. Mean TSH level was 1.6±0.7 µIU/mL (NR: 0.4-4.0). Median body mass index (BMI) was 22.8 kg/m2 (IQR 5.1). Median AMH was 1.7ng/mL (IQR 2.1), and mean AFC was 10.2±6.3. Patients with positive and negative thyroid AI did not differ significantly with age (p=0.133), BMI (p=0.784], AFC (p=0.508) and AMH (p=0.825). TSH levels were significantly higher in the positive AI group (2.0±0.8 vs 1.5±0.7µIU/mL; p<0.001).In the univariate and multivariate analysis, only patient's age and AFC were predictive of AMH levels (p<0.001; p<0.001, respectively). TSH levels, BMI and thyroid AI were not predictive of AMH levels.In regard to AFC, in the univariate analysis, only age was predictive (p<0.001). TSH levels, BMI and thyroid AI were not predictive of AFC.Conclusions: In this study we found that thyroid autoimmunity, in women with infertility and TSH levels in the normal range, apparently, do not have a predictive role for functional ovarian reserve.

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