Adult Endocrinologists Research Articles

Hypoprolactinemia, a neglected endocrine disorder.

This special issue of Reviews in Endocrine and Metabolic Disorders is dedicated to hypoprolactinemia. Prolactin is known for its actions on the mammary gland including development, preparation for postpartum lactation, as well as synthesis and maintenance of milk secretion. However, prolactin has many other physiological effects on reproduction, embryonic and fetal development, homeostasis, neuroprotection, behavior, and immunoregulation. In clinical practice, physiopathology and clinical consequences of increased prolactin secretion are generally well understood, and medical treatment to decrease prolactin levels is available and effective in most cases. Unlike prolactin excess, hypoprolactinemia has been a neglected endocrine disorder and nospecific replacement therapy is commercially available. Prolactin is the only anterior pituitary hormone not addressed by clinical hypopituitarism guidelines. In recent years, human studies have revealed that hypoprolactinemia is associated with metabolic, sexual and neuropsychologic alterations. Therefore, this special issue of Reviews in Endocrine and Metabolic Disorders is aimed to enhance our incomplete understanding of hypoprolactinemia. A total of 17 articles were authored by respected scientists and clinicians from a variety of disciplines including adult and pediatric endocrinology, pathology, gynecology, reproductive medicine, oncology, and neurosurgery.

Call the experts: identifying stakeholders in the long-term care of youth with hypospadias

Long-term follow-up for individuals with hypospadias remains a critical area of need, yet evidence-based guidelines for such follow-up are lacking, and the role of involvement of relevant experts is not yet established. Using our hypospadias-specific health-related quality of life conceptual framework and a subsequent qualitative study of prepubertal males and parents of males with hypospadias, we identified potential priorities for long-term follow-up of youth with hypospadias. Using thematic codes from our patient and parent interviews, we searched PubMed for relevant articles and identified the specialties represented by all the authors of these articles. Our search strategy revealed consistent expertise across HRQOL themes and subthemes, including pediatric and adult urology, health psychology, psychiatry, endocrinology, genetics, and social work. Communication experts, as well as patients and families, were also represented in our literature search. Using these findings, we compiled a comprehensive list of potential stakeholders to inform the development of holistic care guidelines for individuals with hypospadias. By engaging these stakeholders, we aim to develop consensus-based, long-term follow-up guidelines and tools to address the evolving physical and psychosocial needs of people with hypospadias over a lifetime. The use of qualitatively derived thematic codes to search for relevant literature is an accessible approach to identifying relevant stakeholders. These findings underscore the importance of involving diverse, multidisciplinary expertise to ensure comprehensive, patient-centered care in complex genitourinary conditions.

LGBTQ+ Supportive and Inclusive Care Practices: Survey Data From the T1D Exchange Quality Improvement Collaborative

OBJECTIVE Living with type 1 diabetes is challenging, but more barriers exist when one also identifies as LGBTQ+ (lesbian, gay, bisexual, transgender, queer, or other gender-expansive identities). Acknowledging the importance of identifying this population and providing personalized care, the Health Resources and Services Administration mandated institutions to document sexual orientation and gender identity (SOGI) data. To understand the current state of SOGI documentation in the T1D Exchange Quality Improvement Collaborative, a survey assessing LGBTQ+ supportive and inclusive care practices was given to affiliated sites. RESEARCH DESIGN AND METHODS Thirty-three pediatric and 21 adult care centers were surveyed via Qualtrics. The survey included questions about their electronic health record documentation of patient-identified gender, pronouns, sexual orientation, and sex assigned at birth (SAAB). Care centers also reported on the legality of gender-affirming care in their municipalities, as well as their willingness to change SAAB after patients meet requirements. Fisher’s exact tests were used to evaluate response frequencies. RESULTS All 33 of the pediatric centers and 81% (17 of 21) of the adult centers responded to the survey. Sixty-four percent of pediatric centers had established strategies to support SOGI documentation, whereas only 50% of adult centers had implemented strategies. Some adult centers could not confirm whether they documented SOGI. Differences were seen between the pediatric and adult endocrinology centers in their documentation of gender identity (P = 0.04) and pronouns (P = 0.02). CONCLUSION Although most endocrinology centers documented gender identity and pronouns, fewer documented sexual orientation. Further work is needed to improve SOGI documentation and assess its impact on LGBTQ+ patients with diabetes.

8076 Advancing Career Development of Physician-Scientists Engaged in Diabetes Research: Insights into the National K12 DiabDocs Program

Abstract Disclosure: K.D. Dasani: None. F.K. Bishop: None. S.H. Golden: None. L.M. Laffel: None. R.G. Mirmira: None. A.K. Steck: None. S.M. Willi: None. D.M. Maahs: None. L.A. DiMeglio: None. Background: In July 2022 the NIH established a multi-center National K12 “Diabetes-Docs: Physician-Scientist Career Development Program” (DiabDocs) to support mentored research experiences and tailored career development training for cohorts of physician scientists focused on diabetes research. DiabDocs scholars are board-certified or board-eligible physicians with training in pediatric or adult endocrinology or in another area tied to diabetes research and care. The program addresses the shortage of physicians engaged in diabetes research and is open to scholars at any eligible institution in the United States. Methods: The DiabDocs program was implemented by two multi-center Program Directors (MPD), in collaboration with an Executive Leadership Committee (ELC) comprised of experienced basic science and clinical/translational physician-scientists. Additional faculty from 19 different institutions have engaged in advisory and reviewer roles. The program solicits Letters of Intent (LOIs) annually from interested candidates followed by invitations for full applications; a program retreat features educational workshops and diversity training; and a Study Section selects Scholars. Currently, the program is in its third recruitment cycle for additional scholars to start Summer 2024. Additional career development programming is available through a series of interactive webinars. The program also has a strong commitment to diversity, equity, and inclusion, including a “DiabDiversity” program to support in-person engagement in DiabDocs experiences by under-represented in medicine trainees. Results: After two successful recruitment cycles in 2022-2023 that reviewed 24 LOIs, 11 scholars were selected. The funded scholars (6 Adult and 5 Pediatric Endocrinologists) include 3 individuals self-identifying as underrepresented in medicine and 7 females. For the 2023 application cycle, 24 LOIs were received (11 from Adult and 9 from Pediatric Endocrinology, 2 in combined Pediatric/Adult Endocrinology, and 2 from other specialties). Conclusions: The DiabDocs program aims to identify, recruit, and support outstanding early career physician scientists. The program provides a national network with resources for protected research time, career development programs, and national mentorship to develop cohorts of skilled professionals contributing to the advancement of diabetes research. Presentation: 6/2/2024

7984 A Challenging Case Of Hyperphosphatemic Familial Tumoral Calcinosis

Abstract Disclosure: T.G. de Souza: None. T.J. Weber: None. Introduction: Hyperphosphatemic Familial Tumoral Calcinosis (hFTC) is a rare, autosomal recessive metabolic disorder characterized by elevated serum phosphate levels and the accumulation of calcium phosphate deposits in soft tissues. There are fewer that 150 genetically confirmed cases in the literature. There are no consensus guidelines; therapeutic approaches are guided by case reports or series. This case serves to heighten awareness of therapeutic strategies including global health considerations for the disabled adult with a rare bone disorder. Case: A 32-year-old African-American woman presented to establish care for hFTC, for which she takes ibuprofen for disabling bilateral hip pain. hFTC was diagnosed in early childhood and managed at a large children’s hospital. Therapeutic modalities relied on operative resection of skin lesions on eruption. She describes cosanguinous parentage, consignment to foster care as a child and homelessness as an adult. She has not had adult endocrine care for her hFTC. Her medical comorbidities include major depressive disorder, PTSD and suicide attempt. She reports one uncle with hFTC noting that his phenotype was not significantly disabling and apparent recession of his lesions with age. Her parents did not have symptoms of hFTC. Radiographically, she had amorphous calcium deposits over both hips (her primary sites of severe pain), upper back (site of painless spontaneous eruptions), and left elbow without pain or skin penetration, as well as hyperostosis of the ilium bilaterally. She noticed waxing and waning of her eruptions with her menstrual cycle, such that lesions worsen in the luteal phase. Megestrol acetate also induced new eruptions. Examination shows brown staining to all teeth with several missing teeth. She had a marked lower extremity limb length discrepancy with severe restriction of hip abduction. Blood chemistries were grossly normal, including renal function, calcium, uric acid and PTH. Serum phosphorous was elevated at 5.2 (2.3 - 4.5 mg/dL). CT showed bilateral nephrocalcinosis. We instituted treatment with a low phosphorous diet, sevelamer to reduce intestinal phosphate absorption and acetazolamide to increase urinary phosphate excretion. For her pain and functional disability, we recommended continued NSAIDs, physical therapy and social work consultation to facilitate continued access to care. Conclusions: This case uniquely describes hFTC symptom fluctuation with the menstrual cycle, worsening with increased progesterone, suggesting a possible role of gonadal hormones on FGF-23 biology. It also highlights the socioeconomic burdens that can accompany rare bone disease, which become more pronounced as the patient achieves adulthood. Successful transition of care from pediatric to adult endocrinologist, in addition to engaging multi-disciplinary support, is essential in optimizing life-long care in hFTC. Presentation: 6/1/2024

International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.

Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours that arise not only in adulthood but also in childhood and adolescence. Up to 70-80% of childhood PPGL are hereditary, accounting for a higher incidence of metastatic and/or multifocal PPGL in paediatric patients than in adult patients. Key differences in the tumour biology and management, together with rare disease incidence and therapeutic challenges in paediatric compared with adult patients, mandate close expert cross-disciplinary teamwork. Teams should ideally include adult and paediatric endocrinologists, oncologists, cardiologists, surgeons, geneticists, pathologists, radiologists, clinical psychologists and nuclear medicine physicians. Provision of an international Consensus Statement should improve care and outcomes for children and adolescents with these tumours.

Resource use and costs of transitioning from paediatric to adult care for patients with chronic endocrine disease.

Structured transition of adolescents and young adults with a chronic endocrine disease from paediatric to adult care is important. Until now, no data on time and resources required for the necessary components of the transition process and the associated costs are available. In a prospective cohort study of 147 patients with chronic endocrinopathies, for the key elements of a structured transition pathway including (i) assessment of patients' disease-related knowledge and needs, (ii) required education and counselling sessions, (iii) compiling an epicrisis and a transfer appointment of the patient together with the current paediatric and the future adult endocrinologist resource consumption and costs were determined. One hundred and forty-three of 147 enroled patients (97.3%) completed the transition pathway and were transferred to adult care. The mean time from the decision to start the transition process to the final transfer consultation was 399 ± 159 days. Transfer consultations were performed in 143 patients, including 128 patients jointly with the future adult endocrinologist. Most consultations were performed by a multidisciplinary team consisting of a paediatric and adult endocrinologist, psychologist, nurse, and a social worker acting also as a case manager with a median of three team members and lasted 87.6 ± 23.7 min. The mean cumulative costs per patient of all key elements were 519 ± 206 Euros. In addition, costs for case management through the transition process were 104.8 ± 28.0 Euros. Using chronic endocrine diseases as an example, it shows how to calculate the time and cost of a structured transition pathway from paediatric to adult care, which can serve as a starting point for sustainable funding for other chronic rare diseases.

Adult endocrinologists' perspectives on transitioning adolescent patients with congenital adrenal hyperplasia.

The study aimed to evaluate adult endocrinologists' perspectives on caring for patients with congenital adrenal hyperplasia (CAH) and views on their transition from pediatric to adult care. An online survey was conducted among adult clinical endocrinologists at Harvard Medical School-affiliated hospitals from March to October 2022. Most participants (25/34, 73.5 %) treat patients with CAH and expressed moderate to high confidence (23/32, 71.9 %) in their care. Those that did not treat or accept referrals cited insufficient expertise, knowledge, and resources as reasons. Only half of respondents correctly answered at least 50 % ofstandard of care questions. The main transition of care barrieridentified was the absence of standardized policies (12/34, 35.3 %). Participants, though involved in care of patients with CAH, had varied responses to standard of care questions and transition of care barriers, emphasizing the need for standardized transition protocols and additional training to ensure up-to-date clinical knowledge.

Diagnosis and management of children and adult craniopharyngiomas: a French Endocrine Society/French Society for Paediatric Endocrinology & Diabetes Consensus Statement

Craniopharyngiomas are rare hypothalamic-pituitary tumors found in young children, adolescents and adults, and their multidisciplinary management required, calls for consistent practices for practicioners, patients and families. The French Endocrine Society and French Society for Pediatric Endocrinology & Diabetes enlisted and coordinated adult and paediatric endocrinologists, neurosurgeons, pathologists, radiotherapists as well as psychologists, dieticians and a patient association, to draft a reference document on this severe disease.The management of craniopharyngiomas remains complex due to their aggressive nature, invasive behavior, and propensity for recurrence, requiring a sequential and measured therapeutic approach and follow-up in expert centers. Although patient survival rates are high, the consequences of both the tumor and its treatment can lead to serious comorbidities and impaired quality of life, particularly in those patients with lesional hypothalamic syndrome. Recent advances have allowed the two described tumor types - papillary and adamantinomatous - to be associated with distinct molecular signatures, specific pathophysiological mechanisms and ipso facto, distinct therapeutic approaches, including innovative medications for hyperphagia, that will continue to evolve. This consensus statement covers all stages in the management of patients with craniopharyngioma, from diagnosis to therapeutic strategies including the long-term follow-up.

Transgender health objectives of training for adult Endocrinology and Metabolism programs: Outcomes of a modified-Delphi study.

Transgender people encounter significant barriers when seeking timely, high-quality healthcare, resulting in unmet medical needs with increased rates of diabetes, asthma, chronic obstructive pulmonary disease, and HIV. The paucity of postgraduate medical education to invest in standardization of transgender health training sustains these barriers, leaving physicians feeling unprepared and averse to provide transgender health care. Closing this education gap and improving transgender healthcare necessitates the development of consensus-built transgender health objectives of training (THOOT), particularly in Adult Endocrinology and Metabolism Residency programs. We conducted a two-round modified-Delphi process involving a nationally representative panel of experts, including Adult Endocrinology and Metabolism program directors, physician content experts, residents, and transgender community members, to identify THOOT for inclusion in Canadian Endocrinology and Metabolism Residency programs. Participants used a 5-point Likert scale to assess THOOT importance for curricular inclusion, with opportunities for written feedback. Data was collected through Qualtrics and analyzed after each round. In the first Delphi round, panelists reviewed and rated 81 literature extracted THOOT, achieving consensus on all objectives. Following panelists' feedback, 5 THOOT were added, 9 removed, 34 consolidated into 12 objectives, and 47 were rephrased or retained. In the second Delphi round, panelists assessed 55 THOOT. Consensus was established for 8 THOOT. Program directors' post-Delphi feedback further consolidated objectives to arrive at 4 THOOT for curriculum inclusion. To our knowledge, this is the first time a consensus-based approach has been used to establish THOOT for any subspecialty postgraduate medicine program across Canada or the United States. Our results lay the foundation towards health equity and social justice in transgender health medical education, offering a blueprint for future innovations.

Factors Affecting the Publication Rate of Adult Endocrinology Theses in Turkey: A Comprehensive Bibliometric Analysis

Factors Affecting the Publication Rate of Adult Endocrinology Theses in Turkey: A Comprehensive Bibliometric Analysis

Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study.

Congenital adrenal hyperplasia (CAH) is a group of disorders that affect the production of steroids in the adrenal gland and are inherited in an autosomal recessive pattern. The clinical and biochemical manifestations of the disorder are diverse, ranging from varying degrees of anomalies of the external genitalia to life-threatening adrenal insufficiency. This multicenter study aimed to determine the demographics, biochemical, clinical, and genetic characteristics besides the current status of adult patients with CAH nationwide. The medical records of 223 patients with all forms of CAH were evaluated in the study, which included 19 adult endocrinology clinics. A form inquiring about demographical, etiological, and genetic (where available) data of all forms of CAH patients was filled out and returned by the centers. Among 223 cases 181 (81.16%) patients had 21-hydroxylase deficiency (21OHD), 27 (12.10%) had 11-beta-hydroxylase deficiency (110HD), 13 (5.82%) had 17-hydroxylase deficiency (17OHD) and 2 (0.89%) had 3-beta-hydroxysteroid-dehydrogenase deficiency. 21OHD was the most prevalent CAH form in our national series. There were 102 (56.4%) classical and 79 (43.6%) non-classical 210HD cases in our cohort. The age of the patients was 24.9 ± 6.1 (minimum-maximum: 17-44) for classical CAH patients and 30.2 ± 11.2 (minimum-maximum: 17-67). More patients in the nonclassical CAH group were married and had children. Reconstructive genital surgery was performed in 54 (78.3%) of classical CAH females and 42 (77.8%) of them had no children. Thirty-two (50.8%) NCAH cases had homogenous and 31 (49.2%) had heterogeneous CYP21A2 gene mutations. V281L pathological variation was the most prevalent mutation, it was detected in 35 (55.6%) of 21OHD NCAH patients. Our findings are compatible with the current literature except for the higher frequency of 110HD and 17OHD, which may be attributed to unidentified genetic causes. A new classification for CAH cases rather than classical and non-classical may be helpful as the disease exhibits a large clinical and biochemical continuum. Affected cases should be informed of the possible complications they may face. The study concludes that a better understanding of the clinical characteristics of patients with CAH can improve the management of the disorder in daily practice.

Paediatric Cushing's disease: long-term outcome and predictors of recurrence.

Paediatric Cushing's disease (CD) is characterized by excess ACTH secretion from a pituitary adenoma, leading to hypercortisolism. It has approximately 5% of the incidence of adult CD and is a rare disorder in the paediatric age range. The four most specific presenting features of hypercortisolism are: change in facial appearance, weight gain, decreased linear growth and virilisation shown by advanced pubic hair for the stage of breast development or testicular volume. The main diagnostic priority is the demonstration of hypercortisolism followed by distinction between its ACTH-dependent and ACTH-independent origin, thus leading to identification of aetiology. All treatment options aim to resolve or control hypercortisolism. Consensus favours transsphenoidal (TSS) pituitary surgery with selective removal of the corticotroph adenoma. TSS in children with CD is now well established and induces remission in 70-100% of cases. External pituitary radiotherapy and bilateral adrenalectomy are second-line therapeutic approaches in subjects not responding to TSS. Long-term medical treatment is less frequently adopted. Recurrence in paediatric CD cases is low with factors predicting relapse being higher post-TSS cortisol and ACTH levels and rapid recovery of the hypothalamic-pituitary-adrenal axis after TSS. In summary, complete excision of the microadenoma with histological and biochemical evidence for this, predicts a low rate of recurrence of CD. Due to the need for rapid diagnosis and management to avoid the burden of prolonged exposure to hypercortisolism, tertiary university centres comprising both paediatric and adult endocrinology specialists together with experienced pituitary surgery and, eventually, radiotherapy units are recommended for referral of these patients.

P-18 Dent's Disease as a rare cause of rickets

Abstract Introduction Dent's disease is a rare recessive X-linked disorder characterized by hypophosphatemia, hematuria, proteinuria, hypercalciuria, nephrocalcinosis, and progressive renal failure. The majority of cases are caused by mutations in the CLCN5 or OCRL genes. The primary mechanisms of rickets in Dent's disease are a deficiency in phosphate absorption in the proximal tubules of the kidney and an increase in urinary calcium excretion. In order to draw attention to this rare disease, we present a patient diagnosed with Dent's disease while being evaluated for hypophosphatemic rickets. Clinical Case A 23-year-old male patient with Dent's disease was referred to an adult endocrinology clinic for follow-up after a CLCN5 mutation was identified during an examination for hypophosphatemic rickets and proteinuria at the age of three. Since the age of 18, he has been diagnosed with chronic kidney disease. At the age of 19, he has a history of hospitalization for osteomyelitis. No history of fracture. In his family history, both of his parents were cousins, that have short stature and Dent's disease mutation was found to be heterozygous. Both cousins had hypophosphatemic rickets diagnosis. On physical examination, he was mobile, 155 cm tall, weighed 55 kilograms, had bilateral genu valgum, and other system examinations revealed no pathology. The patient was taking 500 mg of phosphate three times per day in addition to 0.5 microgram of calcitriol. In laboratory evaluation, creatinine was 3.11 mg/ dL, GFR was 26 ml/min, PTH was 118 pg/mL, ALP was 82 IU/ml, phosphorus was 3.44 mg/ dL, and calcium was 10 mg/dL. 24-hour urine calcium: 195 mg/day; osteocalcin: 188 ng/mL; beta-crosslaps: 2 ng/mL. It was determined to be high-turnover chronic kidney disease-bone disorder. Urinary ultrasonography showed bilateral kidney diameters decreased and parenchymal thickness thinned, bilateral kidney echoes increased, and bilateral medullary nephrocalcinosis with high echogenicity and calcifications. Cataract and basal ganglia calcification were not detected. Dual Energy X-Ray Absorbsiometry evaluation revealed that the L1-L4 BMD: 0.915 gr/cm2 Z score: -1.1 and the femoral neck BMD: 0.614 gr/cm2 Z score: -3.1 were lower than anticipated for age. The patient's calcitriol dosage was reduced to three times per week after PTH suppression. Since the serum ALP concentration was normal, the oral phosphorus dose was not altered. A limited sodium diet was suggested for the patient. The patient with bilateral nephrocalcinosis was referred to the nephrology clinic for further evaluation. Conclusion Patients diagnosed with rickets should also be mindful of Dent's disease, which must be closely monitored alongside nephrology.Figure 1.Bilateral knee radiograph of the patient

Improving transition of care from pediatric to adult endocrinology for adolescents with diabetes

IntroductionAdolescence is a challenging time in a child’s life and can be even more stressful for those with a chronic medical condition such as diabetes mellitus. Adolescents and young adults with type 1 and type 2 diabetes experience worsening glycemic levels as they enter adulthood. Data suggest that a formalized health care transition process and beginning transition preparation in early adolescence leads to better transition outcomes. MethodsThe aim of this study was to create a transition of care program for youth with diabetes in a standalone children’s hospital by following the Got Transition Six Core Elements of Health Care Transition. First, we implemented a transition of care policy and formalized how we discussed transition of care with patients and families in early adolescence. Further improvements have included assessing readiness to transition, designing a curriculum centered around adolescent-specific issues and how they relate to diabetes management, and forming connections with adult endocrinologists in the area to establish a seamless transition process. ResultsAfter implementing our program, 90 % (28/31) of our patients indicated they were very or somewhat ready to transition to adult care. DiscussionWe outline our process for developing a transition of care program and provide a practical tool for other pediatric diabetes providers who are interested in implementing a similar program.

A Novel Receivership Model for Transition of Young Adults With Diabetes: Experience From a Single-center Academic Transition Program

ObjectiveThe transition from pediatric to adult care for young adults with diabetes represents an important but often challenging time characterized by a shift from a family-centered care model of pediatrics to a patient-centered care model of adult medicine. We developed a structured transition program based on an adult receivership model at a large academic medical center to improve care coordination and patient satisfaction with the transition process. MethodsFrom 2016 to 2020, we implemented a series of quality improvement efforts for young adults aged 18 to 23 years with diabetes by incorporating best practices from the American Diabetes Association guidelines on care for emerging adults. We measured transition orientation attendance, patient satisfaction, hemoglobin A1c (HbA1c) pre- and post-transfer, and care gaps to determine the impact of the program. ResultsIn this study, 307 individuals with type 1 diabetes and 16 individuals with type 2 diabetes were taken care of by the adult endocrinology department at the University of Michigan between January 1, 2016 and October 31, 2020. We observed high attendance rates (86% among internal transfers) and favorable patient satisfaction scores for the transition orientation session. Despite the glycemic challenges posed during the transition, HbA1c modestly yet significantly improved 1-year after transfer (−0.4%, P < .01). ConclusionWe successfully established and maintained a young adult diabetes transition program using a quality improvement approach. Future work will focus on reducing care gaps at the time of transfer, assessing long-term retention rates, and enhancing care coordination for patients referred from outside the health network.

The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network

ContextDiagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step in the management of severe conditions such as rare endocrine diseases. Little is known of how diagnosis is communicated to patients and families. The FIRENDO network was created by the third French Plan for Rare Diseases, to promote autonomy, care and research on rare endocrine diseases. ObjectivesThe aim of this study was to characterize, for the first time, the experience and needs of patients and/or their parents around the announcement of diagnosis to ensure optimal quality of care. MethodsA quantitative self-administered survey on diagnosis announcement procedures in rare endocrine diseases was launched in April 2017 by the ad hoc FIRENDO thematic working group in collaboration with its 11 partnering patient associations and support groups. The questionnaire was designed and revised by patient support group representatives, adult and pediatric endocrinologists, psychologists and biologists, all expert in rare endocrine diseases. It was made available on the FIRENDO network website and distributed mainly by email with electronic links on their respective websites to members of all affiliated patient support groups. ResultsQuestionnaires were filled out by 391 patients and 223 parents (median age of patients: 39 years). The following conditions were associated with at least 30 answers: Addison's disease, classical forms of congenital adrenal hyperplasia (CAH), Russell-Silver syndrome, Cushing's syndrome, acromegaly and craniopharyngioma. Overall, some announcement modalities were judged favorably by patients: physician's empathy, availability and use of clear terms, and presence of family at the time of announcement. However, a lack of psychological care and information documents was reported, as well as some inadequate procedures such as postal mail announcements. ConclusionThis work suggests that better knowledge of the patient's experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.

SIOG2023-5-P-394 - Bone Health Assessments in Geriatric Oncology: The Senior Adult Oncology Service & Endocrinology

SIOG2023-5-P-394 - Bone Health Assessments in Geriatric Oncology: The Senior Adult Oncology Service & Endocrinology

Multivariable Model to Predict an ACTH Stimulation Test to Diagnose Adrenal Insufficiency Using Previous Test Results.

The adrenocorticotropin hormone stimulation test (AST) is used to diagnose adrenal insufficiency, and is often repeated in patients when monitoring recovery of the hypothalamo-pituitary-adrenal axis. To develop and validate a prediction model that uses previous AST results with new baseline cortisol to predict the result of a new AST. This was a retrospective, longitudinal cohort study in patients who had undergone at least 2 ASTs, using polynomial regression with backwards variable selection, at a Tertiary UK adult endocrinology center. Model was developed from 258 paired ASTs over 5 years in 175 adults (mean age 52.4 years, SD 16.4), then validated on data from 111 patients over 1 year (51.8, 17.5) from the same center, data collected after model development. Candidate prediction variables included previous test baseline adrenocorticotropin hormone (ACTH), previous test baseline and 30-minute cortisol, days between tests, and new baseline ACTH and cortisol used with calculated cortisol/ACTH ratios to assess 8 candidate predictors. The main outcome measure was a new test cortisol measured 30 minutes after Synacthen administration. Using 258 sequential ASTs from 175 patients for model development and 111 patient tests for model validation, previous baseline cortisol, previous 30-minute cortisol and new baseline cortisol were superior at predicting new 30-minute cortisol (R2 = 0.71 [0.49-0.93], area under the curve [AUC] = 0.97 [0.94-1.0]) than new baseline cortisol alone (R2 = 0.53 [0.22-0.84], AUC = 0.88 [0.81-0.95]). Results of a previous AST can be objectively combined with new early-morning cortisol to predict the results of a new AST better than new early-morning cortisol alone. An online calculator is available at https://endocrinology.shinyapps.io/sheffield_sst_calculator/ for external validation.

FRI594 Results Of A New Transition Of Care Process From Pediatric To Adult Diabetes Services

Abstract Disclosure: F.I. Cooper: None. N. Vyas: None. J. Pierce: None. A. Kulasingham: None. Adolescence is a challenging time in a child’s life and can be even more stressful for those living with diabetes. It has been shown that glycemic levels worsen in young adulthood due to factors such as increasing insulin resistance and gaps in care during the transitioning from pediatric to adult diabetes care. Data suggest that beginning transition preparation in early adolescence is associated with better outcomes. Our aim was to create a transition of care program for youth in our diabetes clinic following the Got Transition Core Elements and assess its effectiveness. First, we established a clinic transition policy and corresponding informational letter, which we distributed to youth ages 12-16. Then, we adopted a Diabetes Summary Form to track and monitor transition progress. Next, we implemented transition readiness screening to youth ages 14-16 using the Readiness Assessment of Emerging Adults with Diabetes Diagnosed in Youth (READDY) tool. Last, we distributed GotTransition.org surveys to youth and their caregivers to assess satisfaction with our clinic’s transition process and perceived readiness to move to an adult provider. The transition letter distribution rate had a mean of 56% and the READDY completion rate had a mean of 40%. Although we did not achieve our distribution target goal of 80%, 90% of those who did complete the READDY indicated they were somewhat or very ready to transition to adult care. The satisfaction survey revealed that many youths still need assistance with insurance (32%) and finding an adult provider (45%). Overall, our initial efforts to establish a healthcare transition program were successful. We will continue our work on 1) improving letter distribution and readiness screening rates, 2) designing a curriculum centered around adolescent-specific issues, including insurance needs and 3) increasing our connections with adult endocrinologists to facilitate seamless transitions. We hope other pediatric diabetes clinics can learn from our experience, as well expanding to other subspecialty clinics in our children’s hospital. Presentation: Friday, June 16, 2023