Turner syndrome transition clinic in the West of Scotland: a perspective.

Introduction: Turner Syndrome (TS) is the commonest chromosomal abnormality in females. Establishing and maintaining long-term follow-up after transition to adult endocrine services, to allow for essential lifelong surveillance of hypertension and cardiovascular disease, and optimal hormone replacement, remains a challenge. A TS transition clinic was established with the aim of supporting successful transfer and establishing long-term follow-up in adult endocrine services. Our objectives are to evaluate the success of our TS transition service primarily in achieving and maintaining follow-up after transfer to adult services and to assess the adequacy of health surveillance post-transition with a specific focus on cardiac monitoring and hormone replacement. Methods: A departmental database was used to identify young people whose care had transferred to adult endocrine services. An electronic case record was utilised to obtain clinic attendance and relevant clinical information on cardiovascular monitoring and hormone replacement therapy (HRT). Results: Forty-six (n=46) young people transferred to adult endocrine services during the observed 20-year period, 1998-2017. Thirty-six (n=36) had transferred prior to 2015, of whom sixteen (n=16, 44%) are lost to long-term follow-up at 5 years. Overall, 41 (89%) patients have had cardiac imaging surveillance since transferring, However, only 30 (73%) of these were carried out at the recommended frequencies. All 20 women in established follow-up have had cardiac imaging. Five out of the 46 (11%) patients do not have any documented cardiovascular monitoring. Forty (86.9%) women have had a documented BP measurement. Nineteen of the 20 women who are in 5- year established follow-up have a documented blood pressure. Five (11%) women are not on HRT, while two (4%) remain on oestrogen-only HRT. Thirty-seven (80.4%) women are on combined HRT, only eight (21.6%) are on the recommended form of oestradiol. Two (4%) are not on HRT due to normal ovarian function. Conclusion: A significant proportion of girls with TS are currently lost to adult endocrine services. Strategies to improve long-term endocrine follow-up are needed to ensure lifelong health needs and adequate hormone replacement are met. Whilst similar parameters are monitored in adult endocrine services a group of patients may be at risk of receiving inadequate HRT and developing cardiovascular complications.

Evaluating transition in Turner syndrome in the West of Scotland.

BACKGROUND: A Turner Syndrome (TS) Transition clinic, Royal Hospital for Children Glasgow (RHCG), with paediatric and adult endocrinology/gynaecology teams was established in 1998 with an aim of improving health outcomes in TS throughout the lifespan. OBJECTIVE: To evaluate the success of our TS transition service, focussing on evaluating established follow-up after transfer to adult services. METHODS: Girls attending the TS Transition clinic at Royal Hospital for Children Glasgow, 1998-2017, were identified. Attendance data were obtained from patient records and an electronic appointment system. We assessed good and late early attendance in our cohort of TS patients as well as established endocrine follow-up, defined as those still attending adult endocrine services 3 years after transfer. Success of TS transition was determined by the proportion of girls in established endocrine follow-up. RESULTS: Forty-six girls (median age 18.3 yrs) were identified. Thirty-six, 36/46 girls transferred prior to 2015 and 26 of those (72%) were in established follow-up at 3 years, 22/36 girls had met with an Adult specialist prior to transfer and 14/36 had not met with an adult specialist prior to transfer. Twenty-one (80.7%) were good early attenders (p = 0.10). In the early attenders' cohort, there was no significant difference between those that had and had not met an adult specialist prior to transfer. CONCLUSION: A significant proportion of girls with TS are currently lost to endocrine follow-up following transfer to adult clinics. Early attendance at an adult clinic appears to predict established long-term follow-up. Strategies to improve early attendance and long-term endocrine follow-up are needed to ensure lifelong health needs are addressed.

Relationship of body fat and its distribution with bone mineral density in Indian population.

Obesity has been associated with increased bone mineral density (BMD). There is evidence of differential effect of regional fat on BMD. Hence, we undertook this study to evaluate the correlation between total body fat and its distribution with BMD in nonobese (mean body mass index: 25.0 ± 4.7 kg/m²) Indian adult volunteers. A total of 2347 participants (men: 39.4% and women: 60.6%) included in this cross-sectional study were divided according to sex and age. Fasting blood samples were drawn for biochemical parameters. Percent total body, truncal, and leg fat and BMD at lumbar spine, femur, and forearm were measured by dual-energy X-ray absorptiometry. The BMD at all sites (radius, femur, and spine) increased from lowest to highest quartiles of percent body fat. Percent truncal fat was positively correlated with BMD at all sites in both sexes, except for femoral neck in men, where it had negative correlation. Percent leg fat was positively related with BMD at all sites in premenopausal women, and spine and radius BMD in postmenopausal women. However, in men, it had negative correlation with femoral neck BMD. On multiple regression analysis, regional fat had positive association with BMD at all sites after adjusting for age, sex, lean mass index, 25-hydroxyvitamin D, and intact parathyroid hormone levels. Leg-to-total body fat ratio was negatively associated with BMD at all sites in men and pre- and postmenopausal women. Percent total body and regional fat have positive association with BMD at all sites in men and women.

Reference range of thyroid function (FT3, FT4 and TSH) among Indian adults.

OBJECTIVES: To generate thyroid hormone reference norms using electro-chemiluminescence technique. DESIGN AND METHODS: Cross sectional study on apparently normal 4349 Delhi adults (18-86 years). Predetermined exclusion criteria (goiter, hypoechogenicity or nodularity on ultrasound, elevated anti-thyroid peroxidase antibody, hypo or hyperthyroidism and family history of thyroid dysfunction) excluded 2433 subjects leaving 1916 (916 males and 1000 females) as the reference population. RESULTS: Mean age and BMI of the reference population were 41.2 ± 18.1 years and 24.5 ± 4.4 kg/m(2) respectively. Median urinary iodine excretion was 233.6 µg/L (79-458;3rd-97th centile). The population was categorized into various age groups (18-30, 31-40, 41-50, 51-60, 61-70 and ≥ 70 years). Overall FT3 and FT4 values in the reference population irrespective of age, ranged from 2.4-8.8 (mean 4.6 ± 0.9) pmol/L and 10.1-24.8 (mean 15.40 ± 2.0) pmol/L, respectively. Mean TSH value in the reference population was 2.2 ± 0.9 mIU/L which was significantly lower than that of total population (3.8 ± 6.1; p<0.001). CONCLUSION: FT3 values were observed to be significantly higher in men than women (p=0.001). The centiles (3rd, 5th, 10th, 25th, 50th, 75th, 90th, 95th and 97th) of FT3, FT4 and TSH were derived for reference purposes in Indian adults. This community based study in Indian adults has established mean reference intervals for FT3, FT4 and TSH for different age groups for both sexes separately using strict exclusion criteria. These can be used as reference norms for Indian adults.

Status of thyroid function in Indian adults: two decades after universal salt iodization.

OBJECTIVES: The aim was to find impact of two decades of universal salt iodization on the prevalence of goiter, thyroid autoimmunity and thyroid dysfunction in Indian adults. METHODS: This was a cross sectional study from Delhi, India. The subject population included 4409 adult members of resident welfare associations of 5 residential colonies, from 18-90 years of age, who participated in general health check-up camps. The subjects underwent a detailed evaluation including history, anthropometry, goiter grading, USG thyroid, thyroid auto-antibodies and thyroid function tests. All these subjects were regularly consuming iodized salt. RESULTS: Overall, 9.6% of subjects had clinical goiter (13.3% women and 3.3% in men). Prevalence of nodules on palpation was found to be in 1.6% which was lower in men. The nodule prevalence increased to 4.6% in men and 5.6% in women on ultrasonography. Thyroid hypoechogenicity was seen in 30.6% of subjects with severe hypoechogenicity higher in women (5.7% men and 15.5% women). TPO antibody was positive in 13.3% adults and it showed a positive correlation with age, female sex and hypothyroidism. Subclinical hypothyroidism was the commonest abnormality encountered and affected 19.3% subjects (15.9% men; 21.4% women). Thyroid dysfunction showed a rising trend with age in both genders. CONCLUSIONS: Normal UIE and low goiter prevalence, especially in males, suggest success of the universal salt iodization program in the region under review. High prevalence of subclinical hypothyroidism was not correlated with either thyroid autoimmunity or iodine intake, as reflected in urinary iodine excretion.

The evolution of thyroid function with puberty.

OBJECTIVE: This study was planned to describe thyroid functional status in different stages of puberty. STUDY DESIGN: We collected data from five schools across different geographical zones of Delhi. All children who consented were evaluated for anthropometry, pubertal stage, goitre status, serum free T3 (FT3), free T4 (FT4), TSH, anti-TPO (thyroid peroxidase) antibodies and thyroid ultrasound. From this sample, a disease- and risk-free or 'reference population' was obtained by excluding those with history of thyroid disease or use of thyroid medications, family history of thyroid disease, goitre, hypoechogenicity or nodularity on ultrasound or positive antithyroid antibodies. RESULTS: The 'total population' comprised 3722 children; the 'reference population' comprised 2134 subjects. The mean, median, 3rd and 97th percentiles of serum FT3, FT4 and TSH for each stage of puberty were obtained. In both boys and girls, FT3 increased with entry into puberty and either stayed constant or declined marginally after stage 3 of puberty. In contrast, in both genders, FT4 decreased with entry into puberty and stayed relatively constant after stage 3 of puberty. TSH levels declined through puberty in boys, but remained largely unchanged in girls. An increased conversion of T4 to T3 is the possible explanation for this finding. CONCLUSIONS: This large community-based study in school-age children using strict exclusion criteria provides data of thyroid function in the various stages of puberty. There is no evidence of 'thyroidarche' during or preceding puberty.

Establishment of age-specified bone mineral density reference range for Indian females using dual-energy X-ray absorptiometry.

We undertook this study to establish age-specified bone mineral density (BMD) reference range for Indian females using dual-energy X-ray absorptiometry. BMD at multiple skeletal sites was measured in 2034 healthy women aged 18--85yr. The effect of anthropometry and biochemical parameters on BMD was determined. Peak BMD was observed between 30 and 35yr at the hip, lumbar spine, and radius. Significant positive correlation of height and weight with BMD was observed at 33% radius, femur neck, and lumbar spine, whereas significant negative correlation was seen between serum alkaline phosphatase (ALP) and serum parathyroid hormone levels with BMD at aforementioned sites. On multivariate regression analysis, age, weight, and serum ALP were the most consistent contributors to variance in the BMD. Compared with age-matched US females, BMD of lumbar spine was significantly lower for our subjects in all age groups. Prevalence of osteoporosis among women aged older than 50yr was significantly higher based on Caucasian T-scores as opposed to using peak BMD/standard deviation values from the population under review at lumbar spine but not at femoral neck.

Thyroid status two decades after salt iodization: country-wide data in school children from India.

OBJECTIVE: Country-wide evaluation of thyroid disorders in school children following two decades of universal salt iodization (USI) has not been carried out till date. This study was planned with aim to assess thyroid status of school children two decades after the launch of USI programme. DESIGN: Population survey. PATIENTS: We collected data from 25 schools in 19 cities across five different geographical zones of India. Those children who were evaluated for anthropometry, and goitre status by palpation formed 'total population'. Children who consented to give blood samples were defined as 'study population'. MEASUREMENTS: Serum free T3, free T4, TSH, anti-TPO antibody and thyroid ultrasound. RESULTS: A total of 38,961 children aged 5-15 years formed total population. Goitre rate was 15.5% while thyroid hypoechogenicity was found in 4404 (11.3%) children. In the study population (13,790 children), 2258 (16.4%) had goitre, 505 (3.7%) had positive anti-TPO antibody titres, 1001 (7.3%) had hypothyroidism (TSH > 5.2 µIU/ml) and 41 (0.3%) had thyrotoxicosis (TSH < 0.1 µIU/ml). Among goitrous children, 203 (9.0%) had anti-TPO positivity, 365 (16.1%) had hypoechogenicity of thyroid and either of these were present in 488 (21.6%) children. CONCLUSIONS: Endemic goitre in school children persisted nationwide, despite more than two decades of USI programme. Thyroid autoimmunity only partially explains the increase in goitre prevalence.

Reference intervals of serum lipid profile in healthy Indian school children and adolescents.

OBJECTIVE: To develop age and sex specific reference intervals of serum lipid parameters in healthy Indian children in the age group of 6-17 years. PARTICIPANTS: Study subjects were selected from the schools of Delhi. Children with BMI either in overweight or obese category were excluded to generate reference intervals. The final analysis included 3076 children with BMI in normal range for age. RESULTS: The mean±SD, 3rd, 10th, 25th, 50th, 75th, 90th and 97th centile values of lipid parameters are presented. All these parameters were significantly higher in girls than in boys. About 89.2% subjects had total cholesterol in acceptable range while 9.1% had borderline elevated and 1.5% had elevated TC. Optimal serum triglyceride levels were seen in 45.1% subjects while optimal levels of HDL cholesterol were seen in 0.3% subjects only. CONCLUSIONS: Reference intervals of serum lipid parameters for healthy Indian children (6-17 years) are presented.

Hypovitaminosis d and hypocalcemic seizures in infancy.

BACKGROUND: Hypocalcemia accounts for a majority of seizures in infants reporting to the emergency ward of our hospital. OBJECTIVE: To evaluate the role of Vitamin D deficiency in the etiology of hypocalcemic seizures in infancy. DESIGN AND SETTING: Cross sectional hospital based study, from April 2006-March 2007. SUBJECTS: 60 infants with hypocalcemic seizures and their mothers (study group) and 60 healthy breastfed infants with their lactating mothers (control group). MEASUREMENTS: Vitamin D [25(OH) D] and intact para-thormone levels. RESULTS: High prevalence of hypovitaminosis D [25(OH)D levels <10 ng/mL] was observed in study mothers (85%), control mothers (50%), study infants (90%), and control infants (41.7%). Mean serum 25(OH) D values in study mothers and their infants (6.54 +/- 5.32 ng/mL and 4.92 +/- 4.62 ng/mL) were significantly lower than those of mother-infant pairs (9.06 +/- 4.78 ng/mL and 9.03 +/- 4.63 ng/mL) in the control group (P<0.001). A strong positive correlation of 25(OH) D levels between mothers and their infants was seen in both the study and control populations (P<0.001). Of the 54 study infants who had 25(OH)D levels <10 ng/mL, 48 (89%) were born to mothers who also had 25(OH) D levels <10 ng/mL. CONCLUSIONS: Vitamin D deficiency is a major cause of hypocalcemic seizures in infants. Infants born to vitamin D deficient mothers are at a significantly higher risk to develop hypocalcemic seizures.

Reference range of thyroid hormones in healthy school-age children: country-wide data from India.

OBJECTIVE: This study was planned to obtain normative data of thyroid functions in school-age children from different regions of India. DESIGN AND METHODS: Students from 36 schools involving 13 states across four geographical zones of India were evaluated for goiter. Subjects who consented, underwent evaluation for serum FT3, FT4, TSH, anti-TPO antibodies and thyroid ultrasound. From this, a "reference population" was obtained by excluding those with personal or family history of thyroid disease, use of thyroid medications, goiter, hypoechogenicity or nodularity on ultrasound or positive anti-thyroid antibodies. RESULTS: Of 24,685 students clinically evaluated, 8665 formed part of the study. The reference population comprised 5343 subjects. The mean, median, 3rd and 97th percentiles of FT3, FT4 and TSH for each year (6-17 years) were obtained. CONCLUSIONS: This community based study in Indian school-age children provides reference intervals for thyroid hormones and evidence against narrowing the TSH reference range.

Reference range of thyroid hormones in normal Indian school-age children.

OBJECTIVE: There is an ongoing debate on narrowing the TSH reference range in adults. In view of the scarce data on normal values of thyroid function tests in children from India, we planned to establish a reference range for thyroid hormones in school-age children. DESIGN AND SUBJECTS: All children (N = 9527; 6-19 years) from six schools representing various zones of Delhi were evaluated for clinical evidence of goitre, thyroid ultrasound, serum free T3 (FT3), free T4 (FT4) and TSH and anti-thyroid peroxidase (anti-TPO) antibodies. From this sample, a reference population (N = 5122) was obtained by excluding those with a personal or family history of thyroid disease, use of thyroid medications, goitre, hypoechogenicity/nodularity on ultrasound or serum anti-TPO antibodies. MEASUREMENTS: Thyroid hormone (FT3, FT4 and TSH) reference ranges were established for each year of life for the total and reference populations. RESULTS: In the reference population, mean serum FT3 was in the range 4.19-4.84 pm/l for boys and 4.03-4.47 pm/l for girls, mean serum FT4 14.69-17.36 pm/l for boys and 14.32-15.88 pm/l for girls, and mean serum TSH 2.57-3.6 mIU/l for boys and 1.83-3.58 mIU/l for girls. For TSH, the 97th percentile was in the range 6.01-8.4 mIU/l for boys and 5.28-8.04 mIU/l for girls, suggesting that at least in children there may not be a need to reduce the upper limit of normal for serum TSH. CONCLUSIONS: This study provides mean reference intervals for FT3, FT4 and TSH for each year of life for both the sexes separately using strict exclusion criteria.