Developmental Pathway Choices of Young People Presenting to a Gender Service with Gender Distress: A Prospective Follow-Up Study.

This prospective case-cohort study examines the developmental pathway choices of 79 young people (13.25-23.75 years old; 33 biological males and 46 biological females) referred to a tertiary care hospital's Department of Psychological Medicine (December 2013-November 2018, at ages 8.42-15.92 years) for diagnostic assessment for gender dysphoria (GD) and for potential gender-affirming medical interventions. All of the young people had attended a screening medical assessment (including puberty staging) by paediatricians. The Psychological Medicine assessment (individual and family) yielded a formal DSM-5 diagnosis of GD in 66 of the young people. Of the 13 not meeting DSM-5 criteria, two obtained a GD diagnosis at a later time. This yielded 68 young people (68/79; 86.1%) with formal diagnoses of GD who were potentially eligible for gender-affirming medical interventions and 11 young people (11/79; 13.9%) who were not. Follow-up took place between November 2022 and January 2023. Within the GD subgroup (n = 68) (with two lost to follow-up), six had desisted (desistance rate of 9.1%; 6/66), and 60 had persisted on a GD (transgender) pathway (persistence rate of 90.9%; 60/66). Within the cohort as a whole (with two lost to follow-up), the overall persistence rate was 77.9% (60/77), and overall desistance rate for gender-related distress was 22.1% (17/77). Ongoing mental health concerns were reported by 44/50 (88.0%), and educational/occupational outcomes varied widely. The study highlights the importance of careful screening, comprehensive biopsychosocial (including family) assessment, and holistic therapeutic support. Even in highly screened samples of children and adolescents seeking a GD diagnosis and gender-affirming medical care, outcome pathways follow a diverse range of possibilities.

COVID-19 Vaccination Telephone Outreach: A Primary Care Clinic Intervention Targeting Health Equity.

INTRODUCTION: Equitable COVID-19 vaccine access is essential to ending the COVID-19 pandemic. In many instances, COVID-19 vaccination notification and scheduling occurred through online patient portals, for which socially vulnerable populations have limited access. Our objective was to reduce disparities in COVID-19 vaccine access for the Black and socially vulnerable populations unintentionally excluded by our health system's patient portal-driven vaccine outreach through a telephone outreach initiative. METHODS: From February 1, 2021, through April 27, 2021, telephone outreach was directed towards patients aged 65 and older without patient portal access at a large urban academic general internal medicine clinic. Univariate and multivariate analyses between those who did and did not receive telephone outreach were completed to assess the odds of vaccination, accounting for outreach status, sex, age, race/ethnicity, payor status, social vulnerability index, and Elixhauser Comorbidity count. RESULTS: A total of 1466 patients aged 65 and older without active patient portals were eligible to receive the COVID-19 vaccine. Of these patients, 664 received outreach calls; 382 (57.5%) of them got vaccinated compared to 802 patients who did not receive outreach calls, of which 486 (60.6%) got vaccinated (P = 0.2341). Patients who received outreach calls versus those who did not were more likely to be female, younger, non-Hispanic Black, from high social vulnerability index census tracts, and have higher Elixhauser Comorbidity counts. Logistical analysis revealed an odds ratio (OR) with a nonstatistically significant trend favoring higher vaccination likelihood in the no outreach cohort with univariate analysis with no changes when adjustment was made for age, sex, race/ethnicity, payor, social vulnerability index, and Elixhauser Comorbidity count (univariate analysis: OR 0.88 [95% CI, 0.71-1.09]; model 1: OR 0.89 [95% CI, 0.72 - 1.10]; model 2 - 0.89 (0.72 - 1.11); model 3: OR 0.87 (95% CI, 0.70 -1.09)]. CONCLUSIONS: While our telephone outreach initiative was not successful in increasing vaccination rates, lessons learned can help clinicians and health systems as they work to improve health equity. Achieving health equity requires a multifaceted approach engaging not only health systems but also public health and community systems to directly address the pervasive effects of structural racism perpetuating health inequities.

Acute illness in children with secondary adrenal insufficiency.

OBJECTIVE AND BACKGROUND: Secondary adrenal insufficiency (SAI) is a rare condition in childhood which can be associated with high levels of morbidity in some patients. The causes of increased levels of illness are not well defined and warrant further investigation. METHODS: A retrospective cohort of patients with SAI was constructed by examining records of all attendances for acute illness by SAI patients at the emergency department of the two specialist paediatric hospitals in Sydney, Australia between 2004 and 2016. Demographic, clinical, and physiological characteristics together with pre-hospital illness management strategies were assessed. RESULTS: There were 168 presentations for an acute illness by 47 children with SAI. Comorbid diabetes insipidus (DI) was present in 46.8% (n = 22), 77.3% (n = 17) of whom were male (P < .05). Patients with comorbid DI were more likely to be admitted (86.7%, n = 65 vs 60.2%, n = 56 for non-DI, P < .01); had a longer hospital stay (6.5 (8.7) vs 2.5 (2.6) days, P < .001); and higher rates of IV HC administration (56.0%, n = 42 vs 35.5%, n = 33), P < .01). The medically-diagnosed adrenal crisis (AC) rate was 3.68 ACs/100PY. Stress dose use was reported by fewer DI patients (58.7%, n = 44) than non-DI patients (78.5%, n = 73, P < .01). Previous attendance at hospital was positively associated with stress dose use (OR = 1.08, 95% CI 1.00, 1.16). CONCLUSION: Secondary adrenal insufficiency can cause significant morbidity in children. Comorbid DI is associated with higher levels of hospitalisation, longer hospital stays and lower levels of pre-emergent stress dose use. Educational interventions in this subgroup of SAI patients may reduce the burden of morbidity.

Type 2 diabetes in children and adolescents across Australia and New Zealand: A 6-year audit from The Australasian Diabetes Data Network (ADDN).

OBJECTIVES: To assess the clinical and demographic characteristics of children and adolescents across Australia and New Zealand (NZ) with type 2 diabetes. METHODS: We performed a descriptive audit of data prospectively reported to the Australasian Diabetes Data Network (ADDN) registry. Data were collected from six tertiary pediatric diabetes centers across Australia (New South Wales, Queensland, South Australia, Western Australia, and Victoria) and NZ (Auckland). Children and adolescents diagnosed with type 2 diabetes aged ≤ 18 years with data reported to ADDN between 2012 and 2017 were included. Age, sex, ethnicity, HbA1c, blood pressure, BMI, waist circumference and lipid profile at first visit were assessed. RESULTS: There were 269 cases of type 2 diabetes in youth reported to ADDN between 2012 and 2017. The most common ethnicities were Indigenous Australian in 56/243 (23%) and NZ Maori or Pacifica in 47 (19%). Median age at diagnosis was 13.7 years and 94% of participants were overweight or obese. Indigenous Australian and Maori/Pacifica children were younger at diagnosis compared with nonindigenous children: median 13.3 years (indigenous Australian); 13.1 years (Maori/Pacifica); 14.1 years (nonindigenous), p = 0.005. HbA1c was higher in indigenous Australian (9.4%) and Maori/Pacifica youth (7.8%) compared with nonindigenous (6.7%) p < 0.001. BMI-SDS was higher in Maori/Pacifica youth (2.3) compared with indigenous Australian (2.1) and nonindigenous (2.2) p = 0.011. CONCLUSIONS: Indigenous Australian and Maori/Pacifica youth in ADDN were younger and had worse glycaemic control at diagnosis of type 2 diabetes. Our findings underscore the need to consider targeted and earlier screening in these "high-risk" populations.

Screening, assessment and management of type 2 diabetes mellitus in children and adolescents: Australasian Paediatric Endocrine Group guidelines.

INTRODUCTION: The incidence of type 2 diabetes mellitus has increased in children and adolescents due largely to the obesity epidemic, particularly in high risk ethnic groups. ß-Cell function declines faster and diabetes complications develop earlier in paediatric type 2 diabetes compared with adult-onset type 2 diabetes. There are no consensus guidelines in Australasia for assessment and management of type 2 diabetes in paediatric populations and health professionals have had to refer to adult guidelines. Recent international paediatric guidelines did not address adaptations to care for patients from Indigenous backgrounds. MAIN RECOMMENDATIONS: This guideline provides advice on paediatric type 2 diabetes in relation to screening, diagnosis, diabetes education, monitoring including targets, multicomponent healthy lifestyle, pharmacotherapy, assessment and management of complications and comorbidities, and transition. There is also a dedicated section on considerations of care for children and adolescents from Indigenous background in Australia and New Zealand. CHANGES IN MANAGEMENT AS A RESULT OF THE GUIDELINES: Published international guidelines currently exist, but the challenges and specifics to care for children and adolescents with type 2 diabetes which should apply to Australasia have not been addressed to date. These include: recommendations regarding care of children and adolescents from Indigenous backgrounds in Australia and New Zealand including screening and management; tighter diabetes targets (glycated haemoglobin, ≤ 48 mmol/mol [≤ 6.5%]) for all children and adolescents; considering the use of newer medications approved for adults with type 2 diabetes under the guidance of a paediatric endocrinologist; and the need to transition adolescents with type 2 diabetes to a diabetes multidisciplinary care team including an adult endocrinologist for their ongoing care.

The effect of patient-managed stress dosing on electrolytes and blood pressure in acute illness in children with adrenal insufficiency.

BACKGROUND: Adrenal crises (AC) are acute episodes of adrenal insufficiency (AI). Manifestations include hypotension and electrolyte disturbances. Glucocorticoid stress dosing (SD) can prevent AC progression, but its effect on physiological parameters has not been assessed in a 'real world setting'. AIMS: To assess the effect of prior self-managed glucocorticoid dose escalation on physiological markers in children with congenital adrenal hyperplasia (CAH) presenting to hospital for an acute illness. METHODS: An audit of records of all children with CAH presenting to paediatric referral hospital between 2000 and 2015. Potassium, sodium and glucose levels, and hypotension were compared between children who had and had not used SD. RESULTS: There were 321 attendances by patients with CAH and an acute illness during the study period. Any form of SD was used by 64.2% (n = 206); intramuscular (IM) hydrocortisone was used by 22.1% (n = 71) and oral only by 41.7% (n = 134). Use of SD (oral and/or IM) was associated with a significantly lower mean potassium level (4.02 ± 0.71 vs. 4.27 ± 0.79 mmol/l, P < .05). Linear regression analysis showed that age (beta: -0.04 years (95% CI -0.06, -0.02)), diarrhoea (beta: -0.41 (95% CI -0.06, -0.02)) and any form of stress dosing (oral, IM or both) (beta: -0.29 (95% CI -0.55, -0.04)) were each independently and significantly associated with potassium levels. SD was not significantly associated with sodium or glucose concentrations or with estimates of hypotension. CONCLUSION: Patient-initiated SD resulted in a significant reduction in hyperkalaemia and lowered mean potassium levels in paediatric patients with CAH but did not alter significantly sodium and glucose concentrations or incidences of hypotension.

Attachment Patterns in Children and Adolescents With Gender Dysphoria.

The current study examines patterns of attachment/self-protective strategies and rates of unresolved loss/trauma in children and adolescents presenting to a multidisciplinary gender service. Fifty-seven children and adolescents (8.42-15.92 years; 24 birth-assigned males and 33 birth-assigned females) presenting with gender dysphoria participated in structured attachment interviews coded using dynamic-maturational model (DMM) discourse analysis. The children with gender dysphoria were compared to age- and sex-matched children from the community (non-clinical group) and a group of school-age children with mixed psychiatric disorders (mixed psychiatric group). Information about adverse childhood experiences (ACEs), mental health diagnoses, and global level of functioning was also collected. In contrast to children in the non-clinical group, who were classified primarily into the normative attachment patterns (A1-2, B1-5, and C1-2) and who had low rates of unresolved loss/trauma, children with gender dysphoria were mostly classified into the high-risk attachment patterns (A3-4, A5-6, C3-4, C5-6, and A/C) (χ2 = 52.66; p < 0.001) and had a high rate of unresolved loss/trauma (χ2 = 18.64; p < 0.001). Comorbid psychiatric diagnoses (n = 50; 87.7%) and a history of self-harm, suicidal ideation, or symptoms of distress were also common. Global level of functioning was impaired (range 25-95/100; mean = 54.88; SD = 15.40; median = 55.00). There were no differences between children with gender dysphoria and children with mixed psychiatric disorders on attachment patterns (χ2 = 2.43; p = 0.30) and rates of unresolved loss and trauma (χ2 = 0.70; p = 0.40). Post hoc analyses showed that lower SES, family constellation (a non-traditional family unit), ACEs-including maltreatment (physical abuse, sexual abuse, emotional abuse, neglect, and exposure to domestic violence)-increased the likelihood of the child being classified into a high risk attachment pattern. Akin to children with other forms of psychological distress, children with gender dysphoria present in the context of multiple interacting risk factors that include at-risk attachment, unresolved loss/trauma, family conflict and loss of family cohesion, and exposure to multiple ACEs.

P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships.

CONTEXT: P450 oxidoreductase deficiency (PORD) is a rare genetic disorder that is associated with significant morbidity. However there has been limited analysis of reported PORD cases. OBJECTIVE: To determine, based on the cohort of reported PORD cases, genotype-phenotype relationships for skeletal malformations, maternal virilisation in pregnancy, adrenal insufficiency, and disorders of sexual development (DSD). DATA SOURCES: PubMed and Web of Science from January 2004 to February 2018. STUDY SELECTION: Published case reports/series of patients with PORD. Eligible patients were unique, had biallelic mutations, and their clinical features were reported. DATA EXTRACTION: Patient data were manually extracted from the text of case reports/series. A malformation score, representing the severity of skeletal malformations, was calculated for each patient. DATA SYNTHESIS: Of the 211 patients published in the literature, 90 were eligible for inclusion. More than 60 unique mutations were identified in this cohort. Four groups of mutations were identified, through regression modeling, as having significantly different skeletal malformation scores. Maternal virilization in pregnancy, reported for 21% of patients, was most common for R457H mutations. Adrenal insufficiency occurred for the majority of patients (78%) and was typically mild, with homozygous R457H mutations being the least deficient. DSD affected most patients (72%), but were less common for males (46XY) with homozygous R457H mutations. CONCLUSIONS: PORD is a complex disorder with many possible mutations affecting a large number of enzymes. By analyzing the cohort of reported PORD cases, this study identified clear relationships between genotype and several important phenotypic features.

Positive impacts of changes to a tertiary hospital after-hours endocrine and diabetes on-call service.

AIM: To examine the impact of changes to the endocrine/diabetes after-hours service model of care at a major tertiary children's hospital in Australia. The model aimed to enhance the independence of families and reduce dependency on after-hours calls to health professionals. METHODS: The after-hours activity was captured prospectively using an iPad with a customised FileMaker database. Data were collected for 9 months prior to and for 8 months after the implementation of a modified model of service. Questionnaires gathered information from endocrine junior medical officers (JMOs) and other hospital staff. Data on emergency department visits were analysed for presentations before and after the implementation of the service changes. RESULTS: Changes to the after-hours service resulted in a significant reduction in median calls from 9 (range 0-39) to 2 (range 0-7) per shift. The number of shifts with no calls increased from 2 to 24% and the number of shifts with <3 calls increased from 8 to 60%. Disturbed nights (calls between 10 pm and 6 am) decreased from 75 to 29%. Junior medical officer experience was positive and there was no perceivable increase in workload from in-hospital staff. The number of endocrine patients presenting to the emergency department did not change significantly following the implementation of the new after-hours service. CONCLUSION: This is the only Australian study to prospectively gather accurate on-call data in order to elucidate the impact of changing a hospital's after-hours endocrine/diabetes service to a model that enhanced family empowerment and independence. Historical 24-h on-call service models are not indispensable, and changes can improve sustainability without compromising patient care.

How physically active do Australian and New Zealander childhood cancer survivors perceive themselves? A report from the ANZCHOG survivorship study.

PURPOSE: Childhood cancer survivors are at risk of treatment late-effects. Physical activity represents a necessary complementary therapy and modifiable risk-factor across all ages for many cardio-metabolic late-effects. This study assessed perceived physical activity in Australian and New Zealander childhood cancer survivors. METHODS: We recruited parents of survivors aged <16 years, and adult survivors of childhood cancer aged ≥16 years, ≥5 years since diagnosis, with age-matched controls for comparison. We compared perceived moderate-vigorous physical activity between survivors and controls, using regression to identify associations with physical activity. RESULTS: We recruited 914 participants (570 childhood cancer survivors and 344 age-matched controls). Parents of survivors perceived more moderate-vigorous physical activity than child controls (248 ± 218, 95% Confidence Interval (CI) = 218-280 vs 185 ± 214 min/week, 95% CI = 144-225, p = 0.036), with no perceived difference between adult survivors and controls (125 ± 152, 95% CI = 108-140 vs 160 ± 201 min/week, 95% CI = 132-187, p = 0.477). Twenty-seven percent of child survivors (vs. 14.5% controls) and 30% of adult survivors (vs. 39.4% controls) met recommendations. Adult survivors who received radiotherapy (OR = 0.585, 95% CI = 0.343-0.995, p = 0.048) or not completed university (OR = 1.808, 95% CI = 1.071-3.053, p = 0.027) were less likely to meet recommendations. CONCLUSIONS: Over two-thirds of Australian and New Zealander childhood cancer survivors across all ages are perceived to not meet physical activity recommendations. Adult survivors who had radiotherapy or did not complete university appeared at-risk for low physical activity. PRACTICAL IMPLICATIONS: Physical activity is important for everyone, but critical among childhood cancer survivors due to increased late cardio-metabolic risks. Monitoring survivors' perceived but also objectively measured physical activity as complementary to routine care is warranted, to provide education and motivate survivors to take control of their health.

Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals.

OBJECTIVE: Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV hydrocortisone, admission and diagnosis of an AC. METHOD: An audit of acute illness presentations among children with CAH to paediatric hospitals in New South Wales, Australia, between 2000 and 2015. RESULTS: There were 321 acute presentations among 75 children with CAH. Two-thirds (66.7%, n = 214) of these resulted in admission and 49.2% (n = 158) of the patients received intravenous (IV) hydrocortisone. An AC was diagnosed in (9.0%). Prior to presentation, 64.2% (n = 206) had used oral stress dosing and 22.1% (n = 71) had been given intramuscular (IM) hydrocortisone. Vomiting was recorded in 61.1% (n = 196), 32.7% (n = 64) of whom had used IM hydrocortisone. Admission, AC diagnosis and use of stress dosing varied significantly between hospitals. IM use varied from 7.0% in one metropolitan hospital to 45.8% in the regional hospital. Children aged up to 12 months had the lowest levels of stress dosing and IV hydrocortisone administration. Higher numbers of prior hospital attendances for acute illness were associated with increased use of IM hydrocortisone. CONCLUSION: Prehospital and in-hospital management of children with CAH can vary between health services. Children under 12 months have lower levels of stress dosing prior to hospital than other age groups. Experience with acute episodes improves self-management of CAH in the context of acute illness in educated patient populations.

Salivary cortisol reveals overt and hidden anxiety in survivors of childhood cancer attending clinic.

BACKGROUND: Symptoms of anxiety may arise from fear of cancer recurrence and memories of traumatic experiences during treatment. This study aimed to identify changes in mental health and cortisol, a biological marker of stress, associated with oncology surveillance clinic attendance. METHODS: Adolescent and young adult (AYA) survivors of childhood cancer (aged 12-30 years, N = 46) attending a survivorship clinic were recruited. The State-Trait Anxiety Inventory, an anxiety self-rating and open answer question, and salivary cortisol collections were completed two weeks before and one day before clinic, on clinic day and two weeks after. RESULTS: Trait anxiety scores were consistent with the normal population. State anxiety scores two weeks after clinic were significantly lower than baseline (p = 0.02). Cortisol diurnal slopes were flatter than baseline after clinic (p = 0.02). Evening cortisol levels were significantly higher than baseline two weeks post clinic (p = 0.02). LIMITATIONS: Combined results from biological and psychometric assessments can be difficult to interpret. Larger cohorts will further delineate cortisol pathway activity and distress in AYA cancer survivors. CONCLUSIONS: Psychometric evidence indicates that AYA survivors of childhood cancer perceive themselves to be less anxious after a survivorship clinic visit. Biological evidence, however, indicates a dysregulation of the hypothalamic-pituitary-adrenal axis which may be linked to clinic attendance. Weak correlations suggest that cortisol may not be a reliable indicator of self-perceived anxiety. This may be due to confounding lifestyle factors influencing the stress response or potential 'coping strategies' developed during past treatment experience which may, hypothetically, have masked self-perceived anxiety.

Attitudes and experiences of childhood cancer survivors transitioning from pediatric care to adult care.

PURPOSE: Survivors of pediatric cancer are prone to late effects which require ongoing medical care. Young adult survivors often transition from specialist pediatric care to adult-oriented or community-based healthcare. This study aims to describe the attitudes and experiences of survivors and their parents towards transition barriers and enablers. METHODS: Long-term survivors and parents (of survivors < 16 years) were recruited from 11 hospitals in Australia and New Zealand to participate in a semi-structured telephone interview regarding their transition experiences. Transcribed interviews were coded and content analysis was used to number participants within themes. RESULTS: Thirty-three participants were interviewed, of which 18 were survivors (mean age 26 years, SD = 6.3; mean time since treatment completion 13.3 years, SD = 6.1) and 15 were parents (mean survivor age 15 years, SD = 1.9; mean time since treatment completion 8.4 years, SD = 2.8). Participants described their transition attitudes as positive (55%), neutral (15%), or negative (30%). Key barriers to transition included dependence on pediatric healthcare providers, less confidence in primary care physicians (PCPs), inadequate communication, and cognitive difficulty. Enablers included confidence in and proximity to physicians, good communication, information, independence, and age. CONCLUSIONS: Many survivors face barriers to their transition out of pediatric care. Early introduction to transition, greater collaboration between healthcare professionals, and better information provision to survivors may improve the transition process. Future research of survivors' experience of barriers/enablers to transition is needed. Development of interventions, such as those that address self-management skills, is required to facilitate transition and encourage long-term engagement.

Menstrual management in developmentally delayed adolescent females.

BACKGROUND: Requests for assistance in menstrual management and menstrual suppression are a common, emotive and sometimes controversial aspect of adolescent disability care. AIMS: To review the uptake and outcomes of menstrual suppression among adolescent patients with developmental delay. METHODS: A retrospective review of the medical records of adolescent females with intellectual disability referred for menstrual management to the Paediatric and Adolescent Gynaecology Clinic, Children's Hospital at Westmead, Sydney, for the three-year period between January 1, 2010 and January 1, 2013. RESULTS: Eighty adolescent patients with developmental delay were identified. A third (n = 28) of the patients were pre-menarcheal at first review with parent/caregivers seeking anticipatory advice. Of the post-menarcheal patients, the median age of menarche was 12 years (range 10-15 years). First and second line interventions were documented as were reasons for change where applicable. The combined oral contraceptive pill (COCP) was the most frequently used therapy (67%), and 19 patients in total had a levonorgestrel releasing intrauterine system (LNG-IUS) inserted (31%). Our study population differs from similar previously published groups in the marked absence of the use of depot medroxyprogesterone acetate or the subdermal etonogestrel releasing device. CONCLUSION: As a paediatrician, it is important to address menstrual management issues and allay caregiver concerns with appropriate advice. Our study supports the use of the COCP as sound first line management in achieving menstrual suppression. The LNG-IUS appears to be a favourable second line option. Further investigation into longer-term outcomes and potential complications of device insertion is recommended.

Primary Gonadal Insufficiency in Male and Female Childhood Cancer Survivors in a Long-Term Follow-Up Clinic.

PURPOSE: Childhood cancer survivors (CCS) are at increased risk of primary gonadal insufficiency (PGI). This study evaluated the prevalence and clinical characteristics of PGI in CCS. METHODS: In this single-center, retrospective, observational, longitudinal study, we characterized CCS with PGI attending the oncology Long-Term Follow-Up (LTFU) Clinic at an Australian university hospital (January 2012-August 2014). From a cohort of 276 CCS, 54 (32 males) met criteria for PGI: elevated gonadotropins plus low estradiol/amenorrhoea (females) or low testosterone/small testicles for age (males). RESULTS: Median age at primary diagnosis was 4.8 years (inter-quartile range [IQR] 3.0-9.7 years) and at LTFU, it was 22.3 years (IQR 18.2-25.7 years). Fifty-three participants (98.1%) were treated with known highly gonadotoxic therapies: alkylating chemotherapy (96.3%), radiotherapy (70.3%), total body irradiation (29.6%), bone marrow transplantation (51.9%), or multimodal protocols (68.5%). At primary diagnosis, 86.7% participants were Tanner stage I and at LTFU, 89.1% participants were Tanner stage V. More females (95.5%; n = 21) than males (40.6%; n = 13) were treated with hormone development therapy (HDT) (p < 0.01). Of these, more than half (n = 18; 7 males) required pubertal induction. There was no significant difference in serum luteinizing hormone/follicle stimulating hormone (LH/FSH), testosterone/estradiol between those untreated and those treated with HDT. Among those on HDT, 60.7% had persistently elevated FSH±LH and 33.3% had low testosterone or estradiol. Six males had semen analysis (five azoospermic, one oligospermic). Psychological assessment was documented in 61.1% of participants, and two-thirds reported fertility concerns. CONCLUSION: PGI is an evolving phenotype that is common in CCS. Suboptimal treatment and non-adherence occur frequently. Ongoing assessment is essential to ensure prompt diagnosis, adequate intervention and to promote HDT adherence.

Utility of salivary enzyme immunoassays for measuring estradiol and testosterone in adolescents: a pilot study.

AIM: We investigated the utility of enzyme immunoassay kits for measuring low levels of salivary estradiol and testosterone in adolescents and objectively assessed prevalence of blood contamination. METHODS: Endocrine patients provided plasma and saliva for estradiol (females) or testosterone (males) assay. Saliva samples were also tested with a blood contamination kit. RESULTS: Picomolar levels of salivary estradiol in females failed to show any significant correlation with plasma values (r=0.20, p=0.37). The nanomolar levels of salivary testosterone in males showed a strong correlation (r=0.78, p<0.001). A significant number of saliva samples had blood contamination. After exclusion, correlations remained non-significant for estradiol, but strengthened for testosterone (r=0.88, p<0.001). CONCLUSION: The salivary estradiol enzyme immunoassay is not clinically informative at low levels. Users should interpret clinical saliva with caution due to potential blood contamination. Our data supports the utility of the salivary testosterone enzyme immunoassay for monitoring adolescent boys on hormone developmental therapy.

Hospital Admission Patterns in Children with CAH: Admission Rates and Adrenal Crises Decline with Age.

Objective. To examine patterns of hospitalisation for acute medical conditions in children with congenital adrenal hyperplasia (CAH). Design. A retrospective study of hospitalisation using administrative data. Setting. All hospitals in NSW, Australia. Patients. All patients admitted with CAH and a random sample of admissions in patients aged 0 to 18 years without adrenal insufficiency (AI). Main Outcome Measures. Admissions and comorbidities by age and sex. Results. Of 573 admissions for medical problems in CAH children, 286 (49.9%) were in males, and 236 (41.2%) had a principal diagnosis of CAH or had an adrenal crisis (AC). 37 (6.5%) ACs were recorded. An infection was found in 43.5% (n = 249) of the CAH patient admissions and 51.7% (n = 1613) of the non-AI group, p < 0.001. Children aged up to one year had the highest number of admissions (n = 149) and six ACs (four in males). There were 21 ACs recorded for children aged 1-5 years. Older CAH children had fewer admissions and fewer ACs. No in-hospital deaths were recorded. Conclusions. Admission for medical problems in CAH children declines with age. An AC was recorded in 6.5% of the admissions, with the majority of ACs occurring in the 1 to 5 years age group and there were no deaths.

Metabolic Health in Childhood Cancer Survivors: A Longitudinal Study in a Long-Term Follow-Up Clinic.

PURPOSE: Childhood cancer survivors (CCS) are at increased risk of metabolic dysfunction as a late effect of cancer treatment. However, pediatric metabolic syndrome (MetS) lacks a unified definition, limiting the diagnosis of MetS in CCS. This study evaluated individual metabolic health risk factors and potential areas for intervention in this at-risk population. METHODS: This single center, retrospective observational longitudinal study evaluated the metabolic health of all CCS attending an oncology long-term follow-up clinic at a university hospital in Sydney, Australia (January 2012-August 2014). Participants were 276 CCS (52.2% male; mean age 18.0 years; range 6.8-37.9 years), at least 5 years disease free with a broad spectrum of oncological diagnoses. Primary metabolic health risk factors included raised body mass index, hypertension, and hypertransaminasemia. Participants treated with cranial radiotherapy (n = 47; 17.0% of cohort) had additional biochemical variables analyzed: fasting glucose/insulin, HDL/LDL cholesterol, and triglycerides. RESULTS: Hypertension was common (19.0%), with male sex (p < 0.01) and being aged 18 years or above (p < 0.01) identified as risk factors. Cranial irradiation was a risk factor for overweight/obesity (47.8% in cranial radiotherapy-treated participants vs. 30.4%; p = 0.02). Hypertransaminasemia was more prevalent among participants treated with radiotherapy (15.6% vs. 7.3%; p = 0.03), and overweight/obese participants (17.6% vs. 8.2%; p = 0.04). CONCLUSION: Metabolic health risk factors comprising MetS are common in CCS, placing this population at risk of premature adverse cardiovascular consequences. Proactive surveillance and targeted interventions are required to minimize these metabolic complications, and a unified definition for pediatric MetS would improve identification and monitoring.

Desmopressin administration in children with central diabetes insipidus: a retrospective review.

BACKGROUND: Central diabetes insipidus (DI) is a rare disorder in children caused by a deficiency of antidiuretic hormone arginine (vasopressin). Desmopressin is the first line agent in management of central DI. However, one of the side effects of desmopressin is water intoxication and hyponatraemia. This study reviews the patterns of desmopressin use and side effects in our institution. METHODS: Retrospective chart review of all patients with central DI followed up in one tertiary centre between 1 January 2008 and 31 December 2010. RESULTS: Forty-one patients (22 males and 19 females) were included. Twelve patients (29.3%) had congenital and 29 patients (70.7%) had acquired DI, mostly as a result of intracranial tumours. Thirty-six (87.8%) patients were on oral desmopressin and the remaining on nasal formulation. The median oral dose was 9.5 (4.2-17.0) µg/kg/day with median frequency of 2.5 (2-3). The median nasal dose was 0.7 (0.4-1.4) µg/kg/day with median frequency of 2.0 (2-3.5). Fourteen patients (34.1%) were switched from nasal to oral desmopressin with the median dose conversion factor of 20.1 (10.7-31.8). Forty percent of patients on nasal desmopressin experienced hypo/hypernatraemia compared to 18.1% on oral, however, there were no significance difference between standardized hypo/hypernatraemia episodes per treatment year. CONCLUSIONS: Oral desmopressin is used in the majority of our patients including infants and toddlers. There is wide inter-individual variation in dose requirement and dosing intervals. Management of central diabetes insipidus remains a challenge in adipsic patients and in young children during intercurrent illness regardless of the desmopressin formulation.