Syndrome of inappropriate secretion of anti-diuretic hormone due to hypothalamic hamartoma: use of tolvaptan.

OBJECTIVES: Hypothalamic hamartoma (HH) typically presents with gonadotrophin-dependent precocious puberty and/or seizures. Other endocrine disturbances are rare. We describe an infant with syndrome of inappropriate secretion of anti-diuretic hormone (SIADH) and a HH. CASE PRESENTATION: A 6-week-old infant presented with seizures and life-threatening hyponatremia. A HH was identified on magnetic resonance imaging. Clinical examination and biochemistry were consistent with SIADH, and serum copeptin was high during hyponatremia, further supporting this diagnosis. Tolvaptan was effective in normalizing plasma sodium and enabling liberalization of fluids to ensure sufficient nutritional intake and weight gain and manage hunger. CONCLUSIONS: Hyponatremia due to SIADH is novel at presentation of a HH, and can be challenging to diagnose and manage. Successful management of hyponatremia in this case was achieved using tolvaptan.

Confidence, consent and chaperones for pubertal staging examinations: a national survey.

OBJECTIVE: General Medical Council (GMC) guidance describes an intimate examination as one that may be embarrassing for the patient, for example, breast or genitalia examination. Documentation of consent and use of a trained impartial observer (chaperone) is recommended. Pubertal staging is often necessitated for assessment of growth and puberty. We assessed current practice of pubertal staging by paediatricians and paediatric endocrinology nurse specialists (PENS) in the UK. METHODS: An electronic survey was distributed to paediatricians (consultants and trainees) and PENS across the UK. The survey enquired about training received, confidence in and typical practice for pubertal staging examinations. RESULTS: 235 responses were received. Low confidence in pubertal staging was commonly reported by trainees and consultants without an endocrinology interest.Most respondents consider pubertal staging to be an intimate examination for male (94.9%) and female (93.1%) patients. Consent to examination is always documented by 38.2% of respondents. 62.0% and 54.8% report always using a chaperone for male and female pubertal staging, respectively. However, many respondents use a parent as the chaperone. Few document the name of the chaperone used. Patient objections and availability of chaperones were commonly perceived barriers to chaperone use. CONCLUSION: Most clinicians consider pubertal staging an intimate examination, but documentation of consent and use of formal chaperones is not standard practice. The use of a parent as a chaperone was common but is not recommended by the GMC. Local chaperone policies should address these issues to protect patients and clinicians.

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.