Health-care problems of Turner syndrome in the adult woman: a cross sectional study of a Victorian cohort and a case for transition.

The aim of this study was to assess current care and to survey comorbidity in a cohort of 39 adult women with Turner syndrome in Victoria. Patients with Turner syndrome (TS) drift away from medical care as they achieve adulthood, despite the need for regular surveillance and management of associated conditions, which would reduce morbidity and prevent complications. Clinical assessment was undertaken for 39 women with TS, mean age 30.1 (+/-11.7) years and information was gathered through personal communication regarding past growth hormone use, oestrogen treatment, hearing loss and health problems. Twenty-four (63.2%) had regular follow-up, but only 17 (43.6%) had adequate recommended surveillance for comorbidities. Forty-three percent had two or more cardiovascular risk factors. Thirty-four (87.2%) were identified with one or more associated disorders. Uterine size was of normal adult dimensions in patients who had received oestrogen before age of 15 years. Adult care for adults with TS is suboptimal and assessment of comorbidities remains sporadic. Adequate transition guidelines and patient education are needed for long-term management of women with TS, to impact on quality of life and longevity.

Age-related pituitary volumes in prepubertal children with normal endocrine function: volumetric magnetic resonance data.

BACKGROUND: Evaluation of the size of the pituitary gland on magnetic resonance imaging (MRI) may be difficult, considering the wide variation in normal gland morphology. Given the paucity of age-related biometric data, our purpose was to obtain standard normal reference values for pituitary volumes in prepubertal children using three-dimensional MRI data. METHODS: Children under the age of 10 yr undergoing brain MRI for seizures or idiopathic developmental delay and who had no endocrine abnormality were recruited prospectively over 2 yr. All MRI studies included a three-dimensional sequence. Only subjects with normal studies were included. One hundred thirty-nine children were eligible (mean age, 5.2 yr). Direct pituitary volumes were measured from contiguous 1-mm thick reconstructed coronal and sagittal images. Estimated pituitary volumes were calculated using pituitary height, width, and length. RESULTS: Volumes obtained from reconstructions in either plane were essentially identical. There was a linear increase in log-transformed pituitary volume with age, but relatively weak correlations with height or body mass index. There was no gender difference and only weak correlations between pituitary height and pituitary volume and between estimated pituitary volume calculation and measured pituitary volume. We provide age-related reference ranges for pituitary volumes in graphical and tabular forms.

Fasting ghrelin levels are not elevated in children with hypothalamic obesity.

Morbid obesity is a common problem after damage to the hypothalamus. Hypothalamic dysfunction is also thought to underlie the obesity that is typical of Prader-Willi syndrome. Elevated fasting levels of the appetite-stimulating hormone ghrelin have been reported in Prader-Willi syndrome. The aim of this study was to determine whether fasting ghrelin levels are increased in children with hypothalamic obesity. Fasting total ghrelin levels were compared in three groups: normal-weight controls (n = 16), obese controls (n = 16), and patients with hypothalamic obesity (n = 16). Obese children had lower fasting total ghrelin levels than normal controls, but there was no difference between the fasting total ghrelin level in obese controls and children with hypothalamic obesity (P = 0.88). These data suggest that it is unlikely that an elevation in fasting total ghrelin is responsible for the obesity that occurs after hypothalamic damage. Therapeutic interventions aimed at reducing fasting total ghrelin may prove ineffective in controlling weight gain in this group.

24-hour ambulatory blood pressure profile in patients with congenital adrenal hyperplasia--a preliminary report.

BACKGROUND: Blood pressure (BP) is maintained within normal limits by the interplay of various mechanisms including the action of cortisol and aldosterone. However, these hormones when exogenously administered are not under the regulatory feedback mechanisms that maintain BP homeostasis. Treatment of congenital adrenal hyperplasia (CAH) requires glucocorticoid replacement (with or without additional mineralocorticoid) at supra-physiological doses to normalize the pituitary adrenocortical axis. HYPOTHESIS: Long-term use of glucocorticoids at supra-physiological doses may result in high BP. OBJECTIVE: To document any changes in BP in patients with CAH following long-term conventional glucocorticoid replacement therapy. PATIENTS AND METHODS: 24-hour ambulatory BP (AmBP) monitoring was performed in 11 patients with CAH, all of whom were on glucocorticoid replacement at supra-physiological doses. In addition, a single random BP measurement was taken in each patient at enrolment. Mean systolic and diastolic pressure during awake and sleep periods, systolic and diastolic BP loads, and systolic and diastolic BP dips were calculated from the 24-hour AmBP profile of each patient, which was correlated with demographic and treatment details. AmBP readings were compared to Task Force references for casual BP and also to recently available AmBP specific reference values. RESULTS: None of the patients had significant BP loads at the 95th percentile (hypertensive BP range) using references for casual BP readings. However, in the subgroup of patients who had significant BP load at the 90' percentile (high normal BP range), higher mean systolic and diastolic pressures were noticed during the awake period. Seven patients did not have a systolic dip with or without a diastolic dip. There was no significant correlation between various BP parameters and demographic or treatment details in our sample. However, one patient had daytime systolic hypertension and six had nocturnal hypertension using AmBP specific reference values. CONCLUSIONS: In this preliminary study, longterm glucocorticoid replacement therapy at supra-physiological doses does not seem to be associated with hypertension in young people with CAH when using casual BP references. However, higher mean BP was noticed in the subgroup of patients with significant systolic or diastolic BP load at high normal BP range, and evidence of daytime and nocturnal hypertension was uncovered using AmBP specific reference values. Further large trials using appropriate BP references are necessary to clarify the significance of these findings.

Ovarian lesions in children and adolescents--an 11-year review.

OBJECTIVE: To describe the spectrum of pediatric ovarian pathology, identifying the clinical features and ultrasound characteristics that help in decisions about patient management, and to correlate these with ovarian pathology. PATIENTS AND METHODS: Retrospective analysis of 134 records of patients admitted with ovarian lesions to Royal Children's Hospital, Melbourne over an 11-year period (1989-99 inclusive). RESULTS: The age of presentation varied widely from 2 days to 19 years with 63.4% being over 12 years of age. Eighty-one patients (60.4%) had physiological or functional ovarian cysts, 52 of which required surgical intervention. Forty-four patients (32.8%) had neoplastic lesions and a palpable abdominal mass was felt in 53.7% of them. Mature cystic teratoma or dermoid cyst, seen in 27 patients, was the commonest neoplasm, and 77.8% of these children were under 12 years. Six children had malignant ovarian neoplasms, of which five were germ cell in origin. Five patients had epithelial or stromal neoplastic lesions. Endocrine manifestations were seen in seven patients and included early or precocious puberty and virilization. Plain trans-abdominal ultrasonography was useful in identifying ovarian lesions in 94 (81.7%) of the 115 patients in whom it was performed, but was not helpful in determining the nature of the lesion. Neoplastic ovarian lesions were commonly greater than 10 cm in diameter CONCLUSIONS: Physiological or functional ovarian cysts are the most common ovarian lesions seen in the pediatric age group and malignant neoplasms are rare. A palpable abdominal mass or ovarian lesion >10 cm was significantly associated with the lesion being neoplastic. Lesions <5 cm in post-pubertal girls were significantly more likely to be non-neoplastic. Ultrasonography is useful in localizing ovarian lesions but is not helpful in determining their pathological nature. Endocrine manifestations sometimes occur with either benign or malignant lesions of the ovary.

Genital abnormalities mimicking congenital adrenal hyperplasia in premature infants.

Unusual genital appearances in premature infants can be easily mistaken for true ambiguous genitalia, with alarming consequences. The results of blood and urine tests carried out for premature infants can be misleading due to persistence of the foetal zone of the adrenal cortex. More importantly, misdiagnosis is devastating for the parents and adds significantly to their distress. Here, we describe two patients with transient genital abnormalities and abnormal biochemical tests.

Evolving hypopituitarism following cranial irradiation.

Increasing survival after treatment for childhood cancer in recent years has left many patients with long-term sequelae. Following cranial irradiation, changes in hypothalamic-pituitary function evolve over several years and multiple hormone deficiencies are frequently found. In the present study we describe a boy whose initial presentation with a cerebral tumour included central precocious puberty. He was followed for more than 15 years and sequentially developed deficiencies of growth hormone, thyroid-stimulating hormone, gonadotrophins and adrenocorticotropic hormone after high-dose cranial irradiation. Long-term endocrine follow up of such children is essential for the early diagnosis and optimal management of hormone deficiencies.

Pamidronate treatment improves bone mineral density in children with Menkes disease.

Menkes disease is a severe multisystem disorder due to defective bioavailability and transport of copper at the cellular level. Deficient activity of lysyl oxidase, a copper-dependent enzyme, causes defective collagen cross-linking leading to osteoporosis and pathological fractures in these children. The objective of the study was to evaluate the changes in bone mineral density following pamidronate treatment in children with Menkes disease. The study design was an open observational study of three children with Menkes disease and significant osteoporosis with or without pathological fractures, all of whom received pamidronate treatment for 1 year. There were 34-55% and 16-36% increases in lumbar spine bone mineral content and areal bone mineral density, respectively, following 1 year of treatment with pamidronate. There were no further fractures in two of the three children treated. No adverse effects of pamidronate treatment were noted. Pamidronate treatment was associated with an increase in bone mineral density and may be an effective treatment modality for the management of osteoporosis in children with Menkes disease.