Growth reference charts for children with hypochondroplasia.

Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population. Anthropometric data were collected to generate height, weight, and head circumference (HC) growth reference charts for children with a diagnosis of HCH. Mixed longitudinal anthropometric data and genetic analysis results were collected from 14 European specialized skeletal dysplasia centers. Growth charts were generated using Generalized Additive Models for Location, Scale, and Shape. Measurements for height (983), weight (896), and HC (389) were collected from 188 (79 female) children with a diagnosis of HCH aged 0-18 years. Of the 84 children who underwent genetic testing, a pathogenic variant in FGFR3 was identified in 92% (77). The data were used to generate growth references for height, weight, and HC, plotted as charts with seven centiles from 2nd to 98th, for ages 0-4 and 0-16 years. HCH-specific growth charts are important in the clinical care of these children. They help to identify if other comorbidities are present that affect growth and development and serve as an important benchmark for any prospective interventional research studies and trials.

Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance.

Adrenal insufficiency (AI) is characterised by lack of cortisol production from the adrenal glands. This can be a primary adrenal disorder or secondary to adrenocorticotropic hormone deficiency or suppression from exogenous glucocorticoids. Symptoms of AI in children may initially be non-specific and include growth faltering, lethargy, poor feeding, weight loss, abdominal pain, vomiting and lingering illnesses. AI is treated with replacement doses of hydrocortisone. At times of physiological stress such as illness, trauma or surgery, there is an increased requirement for exogenous glucocorticoids, which if untreated can lead to an adrenal crisis and death. There are no unified guidelines for those <18 years old in the UK, leading to substantial variation in the management of AI. This paper sets out guidance for intercurrent illness, medical, dental and surgical procedures to allow timely and appropriate recognition and treatment of AI and adrenal crisis for children and young people.

An atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome.

OBJECTIVES: To report an atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome (PJS). CASE PRESENTATION: Two siblings presented with prepubertal gynaecomastia and bilateral macro-orchidism, without mucocutaneous pigmentation or gastrointestinal symptoms. There was no family history of PJS. Sibling 1 had unilateral gynaecomastia. Sibling 2 had bilateral gynaecomastia, advanced bone age and bilateral testicular microlithiasis, not indicative of a large-cell calcifying Sertoli cell tumour. Genetics revealed a paternally inherited heterozygous pathogenic STK11 variant (910C>T) in both siblings. The diagnosis was confirmed following the identification of multiple intestinal polyps in their father. CONCLUSIONS: Prepubertal gynaecomastia and prepubertal macro-orchidism (testicular enlargement without virilisation), always warrant endocrinological investigation, with PJS being an important differential diagnosis. Children may not fulfil the clinical criteria for a diagnosis of PJS at presentation. Genetic testing and gastroenterological investigation of parents may aid diagnosis.

Pituitary function at long-term follow-up of childhood traumatic brain injury.

Pituitary dysfunction is a recognized sequela of traumatic brain injury (TBI), occurring in 10-83% of adult patients, but there are few data on the prevalence or natural history in childhood. Our objective was to determine pituitary function in children and young adults at least 4 years after TBI requiring pediatric intensive care unit (PICU) admission. The effects of TBI and hypopituitarism on height, adiposity, and quality of life (QOL) were also evaluated. Unselected patients discharged from the regional PICU with TBI (age < 18 years at injury) from 1999-2004 were recruited. Blood and urine samples were collected for baseline pituitary function testing. Height and weight were measured. Adiposity was assessed by mid-upper arm and waist circumferences, and body fat percentage estimation using four-site skinfold thickness and bioelectrical impedance. Auxology and adiposity data were compared to local age- and sex-matched healthy control data. QOL questionnaires (PedsQL 4.0 and QOL-AGHDA) were completed. Twenty subjects (median age 16.7 years, range 9.2-23.3 years, 13 male) of 127 who were eligible agreed to participate at a median of 6.8 years (range 4.2-10.3 years) since TBI. Markers of injury were higher in those recruited than those who were not. Biochemical evidence of hypopituitarism was identified in only one case, possibly related to comorbid pre-existing attention deficit-hyperactivity disorder. Height, weight, and adiposity were similar to healthy controls. Poor QOL was seen in patients with chronic functional deficits or comorbidities. Overall, pituitary dysfunction was less prevalent than in previous studies in adults and children. The results of this study do not support the use of routine endocrine evaluation of children following TBI.