The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies.

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare syndrome presenting in early childhood associated with a high risk of mortality between 50 and 60%. It is characterised by rapid, early onset of obesity between 1.5-7 years, along with central hypoventilation and hypothalamic dysfunction, such as central hypothyroidism, hyperprolactinemia, disorders of sodium and water balance, growth hormone deficiency, adrenocortical insufficiency, or disorders of puberty and features of autonomic dysregulation.

Parental concerns about genital differences in children with congenital adrenal hyperplasia persist regardless of the selected intervention.

Background: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21HD) can affect the in utero development of the genital anatomy of people with the 46XX karyotype. Health professionals engage parents in decision-making regarding managing genitals with this difference, including genital surgery options and patient communication.

Aim: We sought to investigate parental communication with their daughters regarding clitoral size variation related to neonatal CAH.

National service evaluation of the quality of care for children and young people with congenital adrenal hyperplasia in the United Kingdom: survey responses from patients and clinicians.

Introduction: Quantifying differences in service provision for children and young people (CYP) living with Congenital Adrenal Hyperplasia (CAH) across the United Kingdom.

Methods: A national service evaluation using online questionnaires circulated to patients and clinicians from secondary and tertiary UK centres managing CYP with CAH, and via the "Living with CAH" support group mailing list.

Results: Total of 195 responses relating to patients aged 0-20 years attending 33 clinics (43 patients, 152 carers), as well as 34 clinicians from 18 trusts working across the 33 clinics.

Cortisol dynamics, quality of life and fatigue following traumatic brain injury in childhood.

Introduction: Traumatic brain injury (TBI) is a leading cause of acquired neurological morbidity. The prevalence of post-traumatic hypopituitarism (PTHP) and associated morbidity after childhood TBI is unclear. Our study investigated long term HPA (hypothalamus-pituitary-adrenal) axis function, in a prospective childhood TBI and control cohort, using measures of cortisol/cortisone secretion (physiological, stimulated), HPA axis feedback and exploring associations with fatigue, depression and Quality of Life (QoL) outcomes.

Quality of Life in Children and Young People With Congenital Adrenal Hyperplasia-UK Nationwide Multicenter Assessment.

Context: Quality of life (QoL) has been inconsistently reported in children and young people (CYP) with congenital adrenal hyperplasia (CAH).

Objective: Assess QoL in CYP with CAH in the UK alongside biometric and androgen profiles.

Design: To define the evidence base for health care delivery, we conducted a cross-sectional study in CYP with CAH in the UK.

Evaluating Eating Behaviour, Energy Homeostasis, and Obesity in Childhood-Onset Craniopharyngioma: A Feasibility Study.

Introduction: Craniopharyngiomas are rare brain tumours (incidence 1.1-1.7 cases/million/year).

Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome - neuro-endocrine tumours (ROHHAD-NET): case series and learning points.

Objectives: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome associated with high morbidity and mortality. Diagnosis is often challenging. We describe three cases of ROHHAD with heterogeneous presentations but some consistent clinical features, including hyperprolactinaemia at diagnosis.

Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study.

Objective: There is limited knowledge on the onset of comorbidities in congenital adrenal hyperplasia (CAH) during childhood. We aimed to establish the health status of children with CAH in the UK.

Design And Methods: This cross-sectional multicentre study involved 14 tertiary endocrine UK units, recruiting 101 patients aged 8-18 years with classic 21-hydroxylase deficiency and 83 controls.

Correlating measured radiotherapy dose with patterns of endocrinopathy: The importance of minimizing pituitary dose.

Background: Pituitary insufficiency is a common toxicity of cranial radiotherapy received in childhood for central nervous system, head and neck, and hematological malignancies. There is a recognized deficiency pattern and correlation with prescribed radiotherapy dose; however, correlation with measured pituitary dose (which can be minimized with modern radiotherapy techniques) has not previously been assessed.

Procedure: Retrospective analysis was carried out of measured pituitary dose and endocrine outcomes of patients receiving cranial, total body, or head and neck photon beam radiotherapy at a tertiary center from July 2008 to October 2019.

Why do parents recommend clitoral surgery? Parental perception of the necessity, benefit, and cost of early childhood clitoral surgery for congenital adrenal hyperplasia (CAH).

Historically, medical management of Congenital Adrenal Hyperplasia (CAH) in girls typically involved feminising surgery, which meant reducing the size and/or visibility of the enlarged clitoris. This practice may have become less routine but remains a common response to genital differences associated with CAH. Parents typically give permission for the child to undergo surgery in early childhood and recommend other parents facing a similar situation do the same.

Psychological Care of Children and Families with Variations or Differences in Sex Development.

The paediatric clinical psychology literature provides applicable evidence for use in specialist healthcare settings and services. The general approach of psychological care of children and families with paediatric conditions is recognizable as preventative and destigmatizing, aimed to maximize personal agency with shared responsibility for achieving best outcomes via multi-professional teamwork. Recent commentaries regarding healthcare for children with differences in sex development (DSD) have noted service-level pitfalls, including poor teamwork and underuse of early and integrated psychological intervention.

Obesity-Associated Mutations and the Melanocortin Pathway.

Background: encodes the Gα (stimulatory G-protein alpha subunit) protein, which mediates G protein-coupled receptor (GPCR) signaling. mutations cause developmental delay, short stature, and skeletal abnormalities in a syndrome called Albright's hereditary osteodystrophy. Because of imprinting, mutations on the maternal allele also cause obesity and hormone resistance (pseudohypoparathyroidism).

Exploring eating behavior and psychological mechanisms associated with obesity in patients with craniopharyngioma: a scoping review protocol.

Objective: The objective of the review is to explore the evidence on the behavioral and psychological mechanisms underlying the development of obesity in patients with craniopharyngioma. The review will map the available evidence, identify gaps in the literature, and find avenues of future intervention.

Introduction: Craniopharyngiomas are low-grade intracranial tumors of the supersellar region.

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Context: Although primary adrenal insufficiency (PAI) in children and young people is often due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur. The relative prevalence of these conditions is poorly understood.

Objective: We investigated genetic causes of PAI in children and young people over a 25 year period.

Combined resistance and aerobic exercise intervention improves fitness, insulin resistance and quality of life in survivors of childhood haemopoietic stem cell transplantation with total body irradiation.

Purpose: To investigate the effects of a supervised combined resistance and aerobic training programme on cardiorespiratory fitness, body composition, insulin resistance and quality of life (QoL) in survivors of childhood haematopoietic stem cell transplantation (HSCT) with total body irradiation (TBI).

Participants: HSCT/TBI survivors (n = 20; 8 females). Mean (range) for age at study and time since HSCT/TBI was 16.

Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase Deficiency.

Background: Monitoring of hormonal control represents a key part of the management of congenital adrenal hyperplasia (CAH). Monitoring strategies remain suboptimal because they rely on frequent blood tests and are not specific for adrenal-derived hormones. Recent evidence suggests the crucial role of adrenal-specific 11-oxygenated-C19 androgens in the pathogenesis of CAH.

The impact of childhood cancer and its treatment on puberty and subsequent hypothalamic pituitary and gonadal function, in both boys and girls.

Childhood cancer survivors (CCS) are at an increased risk of endocrine disorders. Disorders of the hypothalamic-pituitary-gonadal (HPG) axis are a particular concern because of their impact on pubertal development and future fertility and may be of central (hypothalamic or pituitary damage) or primary (gonadal) origin. Hypogonadism may present as pubertal disorders during adolescence and subsequent infertility in adulthood but should be anticipated to ensure appropriate surveillance is in place to address these issues at an appropriate age.

Growth hormone secretion, fatigue and quality of life after childhood traumatic brain injury.

Context: Traumatic brain injury (TBI) is a recognised cause of hypopituitarism in adults but the prevalence after childhood TBI remains controversial.

Objective: To investigate long-term endocrine outcomes and quality of life (PedsQL and QoL-AGHDA (Quality of Life in Adult Growth Hormone Deficiency Assessment)) following childhood TBI.

Design: Prospective study.

Predicted Benign and Synonymous Variants in Cause Primary Adrenal Insufficiency Through Missplicing.

Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children and young adults with PAI of unknown etiology from around the world and identified a heterozygous missense variant (rs6161, c.940G>A, p.

Interval Outcomes of a Lifestyle Weight-Loss Intervention in Early Adolescence.

We undertook a feasibility study to reassess metabolic outcomes in young people with early onset obesity who attended a hospital-based lifestyle weight-loss intervention during adolescence. Comparisons of metabolic assessments, including body mass index standard deviation scores (BMI⁻SDSs), blood pressure (BP), oral glucose tolerance tests (OGTTs), lipid profile, and alanine transaminase (ALT), before and after treatment were made. Twenty-five subjects (10 males) with median ages (interquartile range, IQR) of 14.

The hypothalamic-pituitary-adrenal axis in childhood cancer survivors.

Endocrine abnormalities are common among childhood cancer survivors. Abnormalities of the hypothalamic-pituitary-adrenal axis (HPAA) are relatively less common, but the consequences are severe if missed. Patients with tumours located and/or had surgery performed near the hypothalamic-pituitary region and those treated with an accumulative cranial radiotherapy dose of over 30 Gy are most at risk of adrenocorticotrophic hormone (ACTH) deficiency.

Bone Mineral Density Corrected for Size in Childhood Leukaemia Survivors Treated with Haematopoietic Stem Cell Transplantation and Total Body Irradiation.

Background: Childhood leukaemia survivors treated with haematopoietic stem cell transplantation and total body irradiation (HSCT-TBI) have multiple risk factors for reduced bone mineral density (BMD) and growth failure; hence, BMD assessment must take body size into consideration. This study aimed to evaluate size-corrected BMD in leukaemia survivors treated with and without HSCT-TBI.

Methods: Childhood leukaemia survivors treated with HSCT-TBI (n = 35), aged 17.

Cognitive behavioural therapy stabilises glycaemic control in adolescents with type 1 diabetes-Outcomes from a randomised control trial.

Background: To compare the impact of cognitive behavioural therapy (CBT) with non-directive supportive counselling (NDC) on glycaemic control and psychological well-being in adolescents with type 1 diabetes mellitus (T1DM).

Materials And Methods: Participants aged 11 to 16 years with T1DM (duration ≥1 year) from 4 UK-based paediatric diabetes centres were randomised to receive either 6 weekly sessions of 1-to-1 CBT (n = 43) or NDC (n = 42), with 2 further sessions at 6 and 12 months. Follow-up continued for 12 months postintervention.