Primary adrenal insufficiency (PAI) is characterized by the inability of the adrenal cortex to produce sufficient amounts of glucocorticoids and/or mineralocorticoids. Addison's disease (AD) and congenital adrenal hyperplasia (CAH) are the most frequent disorders in adults and children, respectively. Despite the diagnostic advances and the availability of glucocorticoid and mineralocorticoid replacements, adrenal crisis (AC) is still a potentially lethal condition contributing to the increased mortality, not only during the first year of life, but also throughout life. Failure in increasing glucocorticoid doses during acute stress, when greater amounts of glucocorticoids are required, can lead to AC and an increase morbimortality rate of PAI. Considering a mortality rate of 0.5 per 100 patient years, up to 1,500 deaths from AC are expected in Brazil in the coming decade, which represents an alarming situation. The major clinical features are hypotension and volume depletion. Nonspecific symptoms such as fatigue, lack of energy, anorexia, nausea, vomiting, and abdominal pain are common. The main precipitating factors are gastrointestinal diseases, other infectious disease, stressful events (e.g., major pain, surgery, strenuous physical activity, heat, and pregnancy), and withdrawal of glucocorticoid therapy. Suspected AC requires immediate therapeutic action with intravenous (iv) hydrocortisone, fluid infusion, monitoring support, and antibiotics if necessary. AC is best prevented through patient education, precocious identification and by adjusting the glucocorticoid dosage in stressor situations. The emergency card, warning about acute glucocorticoid replacement, has high value in reducing the morbidity and mortality of AC.

Introduction: Differences of sexual development (DSD) define congenital diseases in which there is an atypical development of chromosomal, gonadal or anatomical sex, and may present varying degrees to genital atypia. There has been a discussion about the ideal time for surgical approach of atypical genitalia. S, because some non-governmental entities argue that the surgical approach should be delayed until adulthood after the patient’s consent. Objective/methodology: To analyze the perspectives of adult DSD patients followed at a reference center in São Paulo on the surgical approach to correct atypical genitalia, through a semi-directed interview. Results: Thirty-seven adult patients with atypical genitalia were interviewed. Patients’ mean age was 36 years. 70% of them had atypical genitalia diagnosed at birth. The patients’ median age at the genitoplasty approach was 5 years (1 to 35 years). The median time interval between the beginning of the follow-up at the referral center and the surgical procedure was 1.9 years. When asked about the ideal period/age for genitoplasty, 72.2% considered the childhood, 16.7% cited when they’re teenagers, 8.3% in adulthood and 2.8% did n’t know. The discomfort reported by the patients related to atypical genitalia decreased after the surgical approach: from 3.8 to 2.9 p < 0.01 (on a scale of 1 “without discomfort’ to 4 “extreme discomfort”). Insecurity about the appearance of genitalia and functionality during sexual intercourse influences negatively affective relationships. Four (10.8%) patients presented gender dysphoria, all of them with 46,XY DSD, three with partial gonadal dysgenesis (all approached surgically before being admitted to our referral service) and one with 5-alpha-reductase 2 deficiency. Conclusion: Most 46,XY DSD patients considered childhood the ideal time to correct their atypical genitalia. An early follow-up in a reference center and an adequate evaluation by a multidisciplinary may influence the positive results associated to the surgical approach of the atypical genitalia in childhood and the low prevalence of gender dysphoria in adulthood.

Introduction: Differences of sexual development (DSD) define congenital diseases in which an atypical development of chromosomal, gonadal or anatomical sex occurs. The approach involves complex themes: gender designation, genitoplasty, hormonal treatment and fertility. Mothers’ understanding optimizes their children’s assistance. Objective/methods: To analyze the mothers’ understanding about the DSD condition, doubts, concerns, barriers to communication and repercussion in gender, sexual orientation and relationships in a cohort followed in reference centers in São Paulo (SP) and Ceará (CE), through an interview. Results: 112 mothers (72 from SP and 50 from CE) were interviewed. Mothers’ mean age was 35 y. The satisfaction related to the understanding about their children’s condition (on a scale from 1 to 5) was higher in the SP: medians of 4 (SP) and 3 (CE). Significant differences were evidenced between the numbers of mothers who knew the condition’s name, 56.3% (SP) and 38.6% (CE); who knew why the children had been affected by it, 38.5% (SP) and 16.7% (CE); and who knew the drugs’ function, 89.3% (SP) and 70.4% (CE). 70% to 83% of the mothers referred doubts, mainly related to the diagnosis and their feeling of guilt. Considering only children with atypical genitalia at birth (n:115), the difference was not diagnosed at hospital in 15% (4 from SP and 14 from CE). Pediatricians and obstetricians first communicated to mothers about the atypical genitalia in 73% of the reports. 70% (SP) and 41% (CE) of the mothers considered the first approach inappropriate. 89% of all mothers feel uncomfortable in talking to other people about the DSD condition and 68% experienced negative comments. Around 70% of mothers reported discomfort in exposing their children’s genitalia and 64% considered genitoplasty as an urgency. 47% referred that the DSD may influence the gender identity, 65.4% referred it may prejudice relationships and 33.3% believed it may influence on sexual orientation. The concern related to stigma was higher than related to fertility, genitalia appearance, relationships, treatments, gender identity and sexuality. Conclusion: Most of the mothers of DSD children, even in reference centers, showed unsatisfaction and lack of knowledge. The health team should be trained and the approach should consider the mothers’ perspectives and be appropriate to the cultural context. Educational actions may improve understanding and reduce the DSD stigma.

Purpose: Pregnancy is associated with the activation of the hypothalamus-pituitary-adrenal axis, which can cause a misdiagnosis of Cushing's syndrome. The aim of this study is to evaluate the impact of pregnancy after pituitary surgery on the recurrence rate in Cushing's disease (CD) patients.Methods: This was a retrospective study in a tertiary center. Between 1990 and 2020, 355 CD patients underwent pituitary surgery. Of those included, 113 female patients who were ≤ 45 years old (median age of 32 years, 14-45), PS remission, a follow up of ≥ 6 months (median of 122 months, 6-402) and an available obstetric history. Recurrence was de ned as the diagnosis of Cushing's syndrome via at least two altered rst-line methods. The patients were divided into two subgroups according to pregnancy: no pregnancy or pregnancy prior to CD diagnosis (NP/PP) and pregnancy after CD pituitary surgery (PA).Results: Overall, recurrence occurred in 43 out of 113 patients (38%). A higher recurrence rate was seen in the PA subgroup (11/22, 50%), but there was no signi cant difference between the NP/PP subgroup (32/91, 35%). No difference in survival-free recurrence (SFR) was found between NP/PP and PA subgroups. The lower SFR was related to a higher PS plasma ACTH and normal pituitary at pathological analyses.Conclusions: There was no difference in the recurrence rate in patients according to pregnancy history.Other studies with higher numbers of patients are needed to con rm these data.

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Introduction: The approach to Differences of Sexual Development (DSD) patients is complex. It involves discussion on karyotype, gonads, genital phenotypes, hormonal treatment, genitoplasty, sexual activity and fertility. A satisfactory understanding by the patients optimize the follow up and the acceptance of the condition. Objective/Methods: To analyze the understanding of DSD patients about their condition, the doubts and concerns, the barriers to communication and repercussion in gender, sexual orientation and relationships in a cohort of patients followed at a reference center, through a semi directed interview. Results: 57 patients were interviewed. The mean ages were 36.5y. Around 90% of all patients concluded at least the high school. Only 50% of all patients knew the condition’s name and how they were affected by it. Still 92% knew the treatment. 63% of the patients presented doubts, mainly related to diagnosis. The median level of satisfaction about the condition understanding (on a scale from 1 to 5) was 4. Most of the patients were first informed by doctors (65%) or mothers (27%). The mean age of diagnostic disclosure was 13 y among patients with atypical genitalia. However, 67% of them preferred be first informed in childhood. Around communication, 60% of them reported no dialogue at home about the condition, 82% feel uncomfortable in talking to other people and 57% experienced negative comments related to DSD. Only four 46,XY DSD presented gender dysphoria: 3 with partial gonadal dysgenesis (who were admitted at the reference service after genitoplasty) and one 5-α-reductase 2 deficiency. About affective relationships, 42% of the patients were single and 70% had already experienced sexual activity. The mean age at first sexual activity was 22y. 72% considered that condition influences negatively on relationships because the stigma, the genitalia appearance, the insecurity in sexual intercourse and fertility. The concern related to stigma was higher among patients with atypical genitalia. The patients’ self-evaluation (scale from 0 to 10) about their condition understanding improved after the interview: 6 to 8.9 (p<0.01). Conclusion: There is lack of knowledge about DSD among patients even treated in a referral center. The atypical genitalia arouses curiosity and stigma. Educational acts for patients, health team and community are needed to make DSD conditions popular, to improve the understanding and communication and to decrease the stigma.

Purpose: Pregnancy is associated with the activation of the hypothalamus-pituitary-adrenal axis, which can cause a misdiagnosis of Cushing’s syndrome. The aim of this study is to evaluate the impact of pregnancy after pituitary surgery on the recurrence rate in Cushing’s disease (CD) patients. Methods: This was a retrospective study in a tertiary center. Between 1990 and 2020, 355 CD patients underwent pituitary surgery. Of those included, 113 female patients who were ≤ 45 years old (median age of 32 years, 14-45), PS remission, a follow up of ≥ 6 months (median of 122 months, 6–402) and an available obstetric history. Recurrence was defined as the diagnosis of Cushing’s syndrome via at least two altered first-line methods. The patients were divided into two subgroups according to pregnancy: no pregnancy or pregnancy prior to CD diagnosis (NP/PP) and pregnancy after CD pituitary surgery (PA).Results: Overall, recurrence occurred in 43 out of 113 patients (38%). A higher recurrence rate was seen in the PA subgroup (11/22, 50%), but there was no significant difference between the NP/PP subgroup (32/91, 35%). No difference in survival-free recurrence (SFR) was found between NP/PP and PA subgroups. The lower SFR was related to a higher PS plasma ACTH and normal pituitary at pathological analyses. Conclusions: There was no difference in the recurrence rate in patients according to pregnancy history. Other studies with higher numbers of patients are needed to confirm these data.