Volume 26, Issue 3-4

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The prevalence of childhood and adolescence obesity is increasing to alarming proportions worldwide and poses a major public health problem by significantly elevating the risks of chronic diseases. There is strong evidence that childhood overweight and obesity are risk factors for severe obesity over the whole life course. In fact, longitudinal studies have found that most overweight/obese children would become overweight and obese adults. There is a lack of coupling in the scientific literature between adipose tissue development and biology to obesity prevention and treatment strategies. This is of utmost importance, especially regarding childhood and adolescence, as the major scientific paradigm in studies of adiposity is that the major number of adipocytes is set for life at this early age. This review discusses the current adipose cell biology paradigms to pinpoint the critical factors and periods in childhood overweight and obesity and, consecutively, to develop relevant prevention strategies.

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Background: Premature adrenarche (PA) is often associated with bone age (BA) advanced by ≥2 years, which increases the concern for underlying pathology, but the frequency and clinical significance of this is unknown. Our objective was to identify the proportion of PA patients with very advanced BA and normal BA and compare the clinical characteristics of the two groups. Methods: Charts of 427 patients aged 5–9 years, referred for early puberty over a 2-year period, were reviewed for clinical diagnosis, growth, parental heights, hormone levels and BA. We divided the PA patients into three separate groups based on degree of BA advancement. Predicted adult heights (PAH) were calculated and compared to mid-parental target height (TH). Results: Of 427 patients, 266 (62%) had PA (82% female). Of the 121 with BA, 30.6% had very advanced BA (≥2 years) and this group was taller (Ht SD+1.72 vs. +0.72, p<0.00001) and had higher BMI (SD+1.70 vs. +0.99, p<0.001) than patients with BA advanced by <1 year, but hormone levels were quite similar. Mean PAH was slightly less than TH for patients with very advanced BA, but there were no girls with PAH <60 inches 152.4 cm or boys with PAH <65 inches 165.1 cm in height. Conclusions: Very advanced BA is common in PA, and patients were significantly taller and more overweight than their peers. The impact of advanced BA on PAH appears to be minor. We question the need for ordering a BA in patients with PA, and suggest that extensive testing is unnecessary simply because of advanced BA.

Aim: To compare pubertal development in age-matched healthy girls born with low birth weight (LBW) or appropriate birth weight for gestational age (AGA). Subjects and methods: Girls with breast in Tanner stage II and normal body mass index were followed for 3 years with a complete physical exam, bone age, pelvic ultrasound, and measurement of gonadal hormones using a leuprolide test. Results: Forty-one girls (AGA 25/LBW 16) were followed up for 3 years. By 3 years, they had similar bone age, adjusted height, and body composition. In LBW girls, breast Tanner stage advanced faster during the first 2 years of follow-up, which was associated with higher serum androgens. Hirsutism score, ovarian volume, and number of follicles between AGA and LBW were not different nor was age of menarche. By the third year, basal and poststimulated levels of gonadotropins and androgens anti-Müllerian hormone and inhibin B were similar in both groups and did not show differences related to birth weight or degree of catch-up growth. Conclusion: LBW recruits showed a slightly faster breast development but no differences in androgen excess signs, internal genitalia, and gonadal hormonal patterns.

Background: The Tanner-Whitehouse (TW) method is one of the well-known techniques in determining the bone age. Objective: According to the objectivity of TW3, the secular trend was investigated to discover whether the skeletal maturation of Taiwanese children between two generations was different. Subjects and methods: The large-scale database of Taiwan was collected. The first group, called mid-1960s, included 265 boys and 295 girls in the agricultural generation (between 1966 and 1967). The second group, called mid-2000s, includes 114 boys and 616 girls in the contemporary generation (after 2000s). The bone age was determined by three radiologists using the carpals-only system of the TW3 method and by two physicians using the Greulich and Pyle method. A comparison of the means (independent-samples t-test) was applied by examining the difference of the children’s skeletal maturation between the two generations in the same chronological age. The significant difference was considered while the p-value was 0.05 or less (95% confidence interval). Results: A significant difference of the mean bone age (by, on average, three radiologists using the TW3 method) between the mid-1960s and mid-2000s in the same gender and chronological age was presented by the independent-samples t-test (p<0.001 with 95% confidence interval), and the bone age, determined by the TW3 method, of the mid-2000s group was higher than that of the mid-1960s group. This scenario corresponded with the children’s bone age determined by pediatricians. Besides, it deserved to notice that the bone age of boys in the mid-2000s was larger than that of the girls in the mid-1960s. Furthermore, by comparing the environmental condition, we suspect that the difference of bone age of children between the two generations was attributed to the discrepancy in nutrition and socioeconomic variation during the four decades in Taiwan. Conclusion: The study presents that the secular trend of skeletal maturation of children in the mid-2000s is faster than that in the mid-1960s.

Objective: To study bone density in healthy Greek girls going through puberty and determine the influence of developmental and hormonal factors. Design: Sixty healthy female adolescents (average age of 13.88±2.53 years) were included. Bone mineral density (BMD) was measured at the hip by DXA (dual energy X-ray absorptiometry). Pubertal stage was determined by Tanner’s criteria. Creatinine, calcium, phosphorus, parathyroid hormone, calcitonin and 25-OH-vitamin D levels were measured in blood samples. The European physical fitness test battery (EUROFIT) was used to assess the parameters of physical fitness that are related to strength. Results: Adolescent girls had a mean (±SD) BMD value of 0.947±0.144 g/cm 2 at the total hip (total hip BMD). Tanner’s stage for pubic hair and body mass index (BMI) constituted significant, positive and independent predicting factors for bone density of total hip. Deficiency of 25OH-vitamin D was a negative predicting factor of bone density. Blood levels of calcium and phosphorus, the hours that adolescents devoted to sports, and handgrip strength, were independent predicting factors of bone density at the hip. Conclusions: Bone density and consequently bone health is determined by factors that can be modified in order to achieve optimal bone growth and reduce the risk of fractures and osteoporosis in later life.

Objective: To determine the predictors of growth response to growth hormone treatment in a group of isolated idiopathic growth hormone (GH). Patients and methods: 477 GH deficient (GHD) children with GH therapy were included in the study. Patients were followed up for a minimum of 1 year and up to 6 years. Multiple linear regressions were performed to identify predictors of growth response to rhGH in the first 4 years of treatment. Results: In the first year, three significant predictors of growth were identified: GH peak [ln (ug/L)], age of onset of therapy and target height-height SDS. In the second and third years of therapy, growth velocity (GV) was both significantly and positively correlated to the GV (cm/year) of the previous year. Conclusion: Prediction models offer a valuable tool for individualization and assuring adherence to rhGH and thus a cost effective treatment, which is the ultimate goal of GH therapy.

Objective: To study growth response to growth hormone (GH) treatment in growth hormone-deficient (GHD) patients. Patients and methods: In total, 477 GHD children were included in the study. Patients were followed up for a minimum of 1 year and up to 6 years, anthropometric assessment was performed every 3 months, while thyroid profile was followed every 6 months. Student’s t-test was used for analysis of two quantitative variables. Results: Patients with complete GHD and multiple pituitary hormone deficiency were significantly shorter as expressed in their height standard deviation score (SDS), target height – height (SDS) and a more bone age delay. Patients with complete GHD showed better growth response compared with those with partial GHD in the first 2 years of therapy. Conclusion: We conclude that anthropometric assessment is the cornerstone in GHD diagnosis and follow-up, where catch up growth occurs in the first 2 years of therapy followed by a plateau.

Physical activity may protect from the adverse effects of obesity. In obese children, an increased adherence and a decreased drop-out rate during exercise could be achieved with adaptated activities. We studied a recreational 12-week controlled training program for sedentary obese children, including interactive video games. We enrolled 22 obese subjects (13.23±1.76 years) in an exercise program, implemented twice a week for a 12-week period. The program consisted of a combination of circuit-based aerobics, strength and resistance exercises; specifically soccer, rugby, volleyball and basketball and interactive video game exercises. Outcome measurements included body composition, metabolic profile and cardiorespiratory fitness. During the 12-week training program there was a significant decrease in body mass index (BMI) (p=0.002), SDS-BMI (p=0.003), waist circumference (p=0.004), waist circumference/height ratio (p=0.001),% fat mass (p=0.001), blood glucose (p=0.001), homeostasis model assessment for insulin resistance (HOMA-IR) (p=0.04), triglycerides (p=0.03) and systolic pressure (p=0.04) before and after exercise. Improvement in estimated maximum oxygen consumption (VO 2max ) (p<0.001) correlated with a decrease in fat mass (p=0.01), triglycerides (p=0.04) and insulin resistance (p=0.02). Exercise improved metabolic and cardiorespiratory fitness in obese children. Exercise training does not necessarily need to be vigorous, recreational programs are also effective and may encourage children to participate in physical activity and limit initial drop-out.

Objective: This study aimed to investigate the possible role of uncoupling protein 2 ( UCP2 ) gene polymorphisms in childhood obesity and related metabolic disorders. Methods: Obese patients (n=100) and healthy controls (n=100) were analyzed for - 866G > A and insertion/deletion ( I/D ) polymorphisms of the UCP2 gene by polymerase chain raction and/or restriction fragment length polymorphism. Results: UCP2 I/D polymorphism showed an association with obesity. The insertion homozygous genotype ( II ) was higher in obese patients (p=0.0001), while the DD genotype was higher in controls (p=0.0034). Body mass index and relative weight were lower in patients carrying the A allele of the - 866G > A polymorphism (p=0.021 and p=0.047, respectively). There was an association between insulin resistance and – 866A allele carrier patients with consanguineous parents (p=0.005). Conclusion: Insertion homozygous genotype and the allele of I/D polymorphism were found to be risk factors for childhood obesity and related metabolic disorders. The - 866A allele was associated with susceptibility to central adiposity, hypercholesterolemia, hypertriglyceridemia and insulin resistance.

Objective: To investigate insulin resistance (IR) with OGTT in obese adolescents who have normal fasting insulin and homeostasis model assessment for insulin resistance (HOMA-IR). Subjects: A total of 97 obese adolescents who had values of HOMA-IR <3.16 and insulin levels <18 μU/mL (125 pmol/L) were included in the study. Methods: Oral glucose tolerance test (OGTT) was performed on all cases. Subjects were divided into two groups: subjects with and without IR using an insulin peak of ≥150 μU/mL (1041.8 pmol/L) and/or ≥75 μU/mL (520.9 pmol/L) 120 min after glucose charge and the sum of insulin levels >2083.5 pmol/L (300 μU/mL) in OGTT. IR risk factors were defined as family history of diabetes mellitus, acanthosis nigricans (AN), and hepatic steatosis. Results: IR was detected in 61 (62.9%) patients. The IR group had significantly more frequent AN (p=0.0001). As the number of risk factors increased, the frequency of IR also increased (p=0.01). Conclusion: We advise to perform OGTT in obese adolescents with normal HOMA-IR, if they have risk factors for IR.

Background and aim: Fasting is an important risk factor for hypoglycemia in children with malaria or pneumonia. Young children are more at risk because of impaired endogenous glucose production presumably due to smaller liver glycogen stores. The aim of this study was to measure the effect of a bolus of glucagon on glucose kinetics, as an indicator of glycogen content, in fasted children with malaria and pneumonia. Methods: After a 16-h controlled fast, plasma glucose concentration and endogenous glucose production were measured using [6,6- 2 H 2 ]glucose in six children with severe malaria and 12 children with severe pneumonia who were 1–5 years of age before and after a bolus glucagon. Results: Basal glucose concentration and endogenous glucose production were higher in children with malaria, p=0.034 and p=0.010, respectively. After glucagon, the increase in the plasma glucose concentration was higher in children with malaria (52±26% vs. 31±23%, p=0.029). Also, the increase in glucose production was higher in children with malaria (106±42% vs. 70±52%, p=0.023). There were no differences in the fasting duration or duration of illness. Conclusions: This is the first study to show infectious disease-related differences in the adaptation of glucose metabolism to fasting in young children. It was found that basal glucose concentration and endogenous glucose production were higher in children with malaria. The increase in plasma glucose concentration and endogenous glucose production in response to glucagon was higher in children with malaria, indicating smaller glycogen stores in children with pneumonia.

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants. Its management can be extremely complicated, and may involve medical therapy and surgery. The mainstay of the treatment is to maintain normoglycemia, since hypoglycemia during infancy can have severe neurological consequences. Objective: To assess the cognitive and developmental levels and the adaptive skills achieved by children with CHI who were treated medically over the past decade. Subjects and methods: Fourteen children with CHI, under the age of 10 years, who received medical treatment only, underwent a physical and neurological examination and standardized assessments that included the Bayley Scale of Infant and Toddler Development, 3rd Edition, or Kaufman Assessment Battery for Children, the Vineland Adaptive Behavior Scales and the Achenbach Child Behavior Checklist (CBCL) parent questionnaire form. Results: Twelve children (86%) achieved normal range scores in the cognitive and development assessments (Bayley Scale of Infant and Toddler Development or Kaufman Assessment Battery for Children). Only two showed cognitive achievements below the normal range. The Vineland questionnaire, which was based on parental report, showed below normal adaptive skills in eight patients (57%). Conclusions: In contrast to previous studies showing a high prevalence of neurodevelopmental difficulties in children with congenital hyperinsulinism, our study showed normal cognitive achievements in most children. This may be attributed to the earlier recognition and better management of the disease in the past decade.

Objective: Advanced glycation end-products (AGEs) via their receptor, RAGE, are involved in diabetic angiopathy. Soluble RAGE, an inhibitor of this axis, is formed by enzymatic catalysis (sRAGE) or alternative splicing (esRAGE). Malondialdehyde (MDA) is an oxidative stress marker, and ferric reducing ability of plasma (FRAP) is an anti-oxidant capacity marker. Methods: In isolated mononuclear blood cells from 110 DM1-patients (P) and 124 controls (C) (4–29 years) RAGE mRNA (g) and protein expression (pe) were measured by RT-PCR and Western immunoblotting, respectively. Plasma levels of CML (AGEs) and sRAGE were measured by ELISA, MDA by flurometry and FRAP according to ‘Benzie and Strain’. Results: P showed: (i) higher g of RAGE, especially in p>13 years of age and >5 years DM1, (ii) increased pe of esRAGE in DM1>5 years and (iii) increased FRAP and MDA. Conclusions: The increased esRAGE and FRAP with increased levels of CML and MDA possibly reflects a protective response against the formation of diabetic complications in these young diabetic patients.

Data on glucose metabolism in Asian adolescents with polycystic ovary syndrome (PCOS) are limited. Glucose metabolism assessment using an oral glucose tolerance test (OGTT) in obese and lean Thai adolescents with PCOS, and a comparison between the two groups were done. Thirty-one patients (19 obese, 12 lean) were enrolled. Their median (range) age was 14.9 (11.0–21.0) years. Eighteen patients had abnormal glucose metabolism (13 hyperinsulinemia, 4 impaired glucose tolerance, and 1 diabetes). Compared between obese [median (range) BMI Z-score, 1.6 (1.2–2.6)] and lean [median (range) BMI Z-score, 0.1 (–1.4 to 0.6)] patients, the frequencies of each abnormal OGTT category, areas under the curves of glucose and insulin levels, and insulinogenic index were not different; however, insulin resistance was greater in the obese group. In conclusion, a high proportion of our adolescents with PCOS had abnormal glucose metabolism. Therefore, OGTT should be performed in adolescents with PCOS for the early detection of abnormal glucose metabolism.

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a congenital autonomic sensory neuropathy. In southern Israel, there are many patients with this disease. We here tried to characterize the different infections acquired by children with CIPA. Methods: We collected all the available data about CIPA patients in southern Israel in the year 1991–2005, including the lesion types, area in the body where the infection occurs, and the treatment given. Results: The current study included 30 children with CIPA, out of 44 known CIPA patients in southern Israel (68.2%). A total of 382 different episodes of infections, fever, orthopedic lesions, and jaw and mouth lesions led our patients to our outpatient clinic or resulted in hospitalization. Conclusion: We found that children with CIPA mainly have infections of the skin and skeleton, and that the most frequent pathogen is Staphylococcus aureus . We also found that a fair amount of these pathogens are resistant to conventional treatment regimens.

Objectives: Reference ranges of blood plasma amino acids are required for the diagnosis and management of inherited metabolic disorders affecting one or more amino acids and can significantly impact the clinical decision-making and the quality of patient care. Our objective was to establish the reference values for plasma amino acids in a Spanish population measured by gas chromatography-mass spectrometry (GC-MS). Methods: Amino acids were extracted, derivatized to N(O)-tert-butyldimethylsilyl, and analyzed by GC-MS. Results: Significant differences in the concentrations of several amino acids have been determined between age groups. Such differences might be due to a combination of several factors, including age, genetic factors, nutritional status, and dietary habits. Conclusions: The amino acid values are not evidently affected by sex, but they do vary with age. Such data help to provide a basis for diagnosing metabolic abnormalities. To our knowledge, this is the first published article showing the age-related reference ranges for plasma amino acids analyzed by GC-MS.

Recently, a case of newborn infant with transient hyperinsulinism has been reported. This infant was reported to be free from typical perinatal risk factors of hyperinsulinism except for the fact that the mother of the baby was receiving the antidepressant bupropion during her pregnancy. However, the mother did not experience hyperinsulinism and, so far, there are no reports about the pharmacological mechanism of bupropion causing hyperinsulinemia. In this study, bupropion was shown to inhibit K ATP channel activity in pancreatic β-cell membranes and induce insulin secretion in relatively high concentration. This study shows, for the first time, that bupropion has a direct electrophysiological action on pancreatic β-cells and can cause insulin secretion and also highlights the risk of using bupropion during pregnancy.

Objectives: The aim was to evaluate the treatment with acetyl-L-carnitine (50 mg/kg/day) and nicotinamide (25 mg/kg/day) in children at risk of type 1 diabetes. This treatment was effective and harmless in experimental type 1 diabetes in mice. Patients: Nine out of seventy healthy participants of the type 1 diabetes risk study were treated. They were typified for diabetes with HLA-DQB1 and positive autoantibodies. Children with a first peak of insulin response ≤48 µU were randomly distributed in control and treated patients. Children evolution was followed with an intravenous glucose tolerance test. Control children were treated when was another risk parameter was added. During their evolution all children were treated. Results: Treatment periods differ (range: 120–16 months) because children began treatment at different times. During the treatment 4 patients recovered their parameters and the medication was suspended; 2 patients continued the treatment with favorable evolution. Two children evolved slowly with normal growth and development. One girl became diabetic because she was treated late. Conclusions: In children at risk, this treatment delays the development or remits the evolution of type 1 diabetes

Non-physiologic prepubertal gynecomastia with an identifiable cause is an uncommon condition. Hyperprolactinemia due to hypothyroidism is known to result in gynecomastia in adults, but this observation has not been reported in children. We discuss here a boy who developed gynecomastia after the first year of age and was later diagnosed with congenital hypothyroidism.

Growth hormone deficiency (GHD) and central precocious puberty (CPP) have each, individually, been described in patients with Klinefelter syndrome. However, the combination of GHD, CPP, and Klinefelter syndrome has never been reported. We described a Klinefelter syndrome patient who developed GHD at age 2 10/12 years and CPP at 8 6/12 years. Despite CPP, GnRH agonist therapy was not initiated because of his excellent predicted adult height. At 11 8/12 years, his height was 164.6 cm, close to his mid-parental target height of 165 cm. We report an additional nine patients with Klinefelter syndrome and GHD from the Pfizer International Growth Study (KIGS) database, none of whom had CPP. We conclude that the combination of GHD and CPP is very rare in Klinefelter syndrome and that CPP is unlikely to compromise final adult height.

Background: Parathyroid hormone (PTH)-independent hypercalcemia in patients with chronic kidney failure is a rare and poor understood entity. Case report: We report the case of an infant with stage III chronic kidney failure secondary to multicystic dysplastic kidney disease, who presented at 3 months of life with severe hypercalcemia, suppressed PTH, and elevated PTH-related peptide. Malignancy was discarded, and the patient was treated twice with bisphosphonates with an initial partial response. During follow-up, the calcium levels descended. To date, he has maintained normal serum calcium level for 1 year after discharge. Conclusions: The presence of PTH-related peptide may play a role in hypercalcemia associated to multicystic dysplastic kidney disease possibly by the overproduction of this peptide in the kidney.

The association of hypertrophy with neoplasm is well-known. Pheochromocytoma is a rare neoplasm in children. Isolated hemihypertrophy and hemihypertrophy linked to other genetic disorders have rarely been associated with the development of pheochromocytoma, with only two cases reported to date. We report a novel case of a 4-year-old male with bilateral adrenal pheochromocytomas and lower extremity hemihypertrophy in the setting of von Hippel-Lindau syndrome.

Autoimmune polyglandular syndrome type 1 (APS1) – characterized by the triad of mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency – is an uncommon entity. In this case report we describe the case of a young girl who presented with classic features of APS1 and dilated cardiomyopathy, which were missed during her presentation to the children’s hospital. Her condition improved only when appropriate replacement therapy in the form of calcium, calcitriol and hydrocortisone was instituted. Hypocalcemia and hypocortisol state are curable causes of myocardial dysfunction and subsequent congestive cardiac failure, and should always be considered in the differential diagnosis of resistant congestive cardiac failure, especially in children. To the best of our knowledge, cardiomyopathy in the setting of APS1 has never been described previously and can remain unrecognized for a long time and present with life threatening complications.

Zellweger syndrome (ZS) is the severest variety of peroxisomal biogenesis disorder (PBD). This is a fatal hereditary, autosomal recessive disorder. It is characterized by the absence of peroxisomes in the cells which are essential for many metabolic functions especially beta oxidation of very long chain fatty acids (VLCFAs). We report the case of a female Saudi toddler. She presented with dysmorphism, profound hypotonia, psychomotor retardation, seizures, and loss of hearing and vision with findings of optic atrophy. Biochemical study revealed significantly elevated level of VLCFAs, cerotic acid and phytanic acid. She also had periventricular leukomalacia and abnormal electroencephalography results and a PEX 1 gene mutation. The clinical data and investigations were consistent with ZS. As it is fatal in early life, genetic counseling and prenatal diagnosis are thus crucial.

Congenital hypoparathyroidism caused by velo-cardio-facial syndrome (VCFS) typically presents with hypocalcemia in the neonatal period associated with other characteristic findings. We report the case of an 8-year-old boy presenting a hypocalcemic seizure (ionized calcium, 0.65 mM); he had a history of velopharyngeal insufficiency and late development with language impairment; at presentation, minor dysmorphic features were noticed. Laboratory evaluation revealed a parathormone level of <1.0 pg/mL. VCFS was confirmed by fluorescence in situ hybridization study revealing the 22q11.2 deletion. High levels of calcium administration were needed to normalize serum calcium. In this case, signs of hypoparathyroidism only developed in late childhood, and the patient, despite the minor clinical signs of VCFS, remained symptom-free. He presented no cardiac malformations, immunologic abnormalities, or renal dysfunction often associated with this diagnosis. In a child with hypocalcemia, considering the hypothesis of VCFS, even if there are no other manifestations, is important both for clinical diagnosis and management and for genetic counseling.

Aarskog-Scott syndrome, also termed as faciogenital dysplasia, is an X-linked disorder consisting of short stature, craniofacial dysmorphism, shawl scrotum, cryptorchidism, and interdigital webbing. Cardiac and central nervous system abnormalities and behavioral disorders can also be detected. The gene responsible for the syndrome is called FGD1 , located at Xp11.21. A 7-year-old boy was admitted to our hospital due to short stature. He was born to non-consanguineous parents after an uneventful term pregnancy. Orchiopexy for bilateral cryptorchidism was performed when he was 2 years old. At physical examination, his height was under 3 percentile, and he had broad nasal bridge, hypertelorism, wide philtrum, brachydactyly, and interdigital webbing. Cranial magnetic resonance imaging and echocardiography revealed normal findings. An eye examination showed amblyopia and astigmatism. The mother had short stature and interdigital webbing as well. Mutational analyses revealed a novel mutation (c.308-2G), hemizygous in the boy and heterozygous in the mother. Aarskog syndrome (faciogenital dysplasia) should be kept in mind in children with short stature and interdigital webbing.

Background: Triple A syndrome is a rare autosomal recessive disease characterized by adrenal failure, alacrima, achalasia, and progressive neurologic symptoms. Aim: Here, we describe the clinical and genetic characteristics in a Chinese patient with novel mutations in the AAAS gene. Materials and methods: The clinical and radiologic characteristics of the patient have been fully described. The coding sequences, including exon-intron boundaries, were amplified from genomic DNA and were sequenced. Results: The clinical and radiologic findings of the patient are fully described. The sequencing of the AAAS gene detected two novel heterozygous mutations, including a c.577C>T, p.Gln193X in exon 7 and a novel frameshift mutation c.1062_1063insAC, p.Ser355fsX416 in exon 11. The testing of parents confirmed their heterozygous carrier status. Conclusions: There are significant clinical variability and mutational heterogeneities in Asian patients with this syndrome. DNA analysis is very helpful in establishing the final diagnosis of triple A syndrome, although its implication in the prediction of clinical expression and the outcome of the disorder is limited.

Pseudohypoaldosteronism type 1 (PHA-1) is a rare salt-wasting syndrome caused by a peripheral resistance to aldosterone. Here, we describe an unusual presentation of the autosomal dominant PHA-1 featuring bilateral pneumothoraces at birth, thrombocytosis in infancy, and hypercalcemia in addition to the well-described findings of hyponatremia, hyperkalemia, and failure to thrive. These findings contribute to the limited case descriptions of PHA-1 and may suggest additional diagnostic considerations in a neonate presenting with hyperkalemia, hyponatremia, and failure to thrive.

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