Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.

Positional cloning of hereditary deafness genes is a direct approach to identify molecules and mechanisms underlying auditory function. Here we report a locus for dominant deafness, DFNA36, which maps to human chromosome 9q13-21 in a region overlapping the DFNB7/B11 locus for recessive deafness. We identified eight mutations in a new gene, transmembrane cochlear-expressed gene 1 (TMC1), in a DFNA36 family and eleven DFNB7/B11 families. We detected a 1.6-kb genomic deletion encompassing exon 14 of Tmc1 in the recessive deafness (dn) mouse mutant, which lacks auditory responses and has hair-cell degeneration. TMC1 and TMC2 on chromosome 20p13 are members of a gene family predicted to encode transmembrane proteins. Tmc1 mRNA is expressed in hair cells of the postnatal mouse cochlea and vestibular end organs and is required for normal function of cochlear hair cells.

Management protocol for anaphylaxis.

There is no universal agreement on the definition of anaphylaxis or the criteria for establishing its diagnosis, although it has been known to the field of emergency medicine for more than 100 years. Two meetings were convened by the National Institute of Allergy and Infectious Disease and Food Allergy and Anaphylaxis Network in April 2004 and July 2005. Representatives from 16 different organizations and government bodies, including representatives from developed nations, continue working toward a universally accepted definition, criteria for diagnosis, and management of anaphylaxis. This article presents the latest concepts on anaphylaxis in the literature including the research needs in this area.

Clinical profile of primary hyperparathyroidism from western India: a single center experience.

BACKGROUND: Primary hyperparathyroidism (PHPT) has a variable clinical presentation and symptomatic PHPT is still the predominant form of the disease in India. Data from western India is lacking. AIM: To present the clinical profile of PHPT from western India. SETTINGS AND DESIGN: This retrospective study was conducted at a tertiary care referral center. MATERIALS AND METHODS: We analyzed the clinical presentation, biochemical, radiological features, and operative findings in adult patients with PHPT (1986-2008) and compared with our published data of children and adolescent patients with PHPT. STATISTICAL ANALYSIS: was done with SPSS 16 software. RESULTS: Seventy-nine patients (F: M-2:1) with age ranging from 21 to 55 years (mean 33.5+/-8.82) were analyzed. Skeletal manifestations (75.5%), renal calculi (40.5%) and proximal muscle weakness (45.5%) were the most common symptoms of presentation with mean duration of symptoms being 33.70 (median: 24, range 1-120) months. Biochemical features included hypercalcemia (total corrected calcium 12.55+/-1.77 mg/dl), low inorganic phosphorus (1.81+/-0.682 mg/dl), elevated total alkaline phosphatase (mean: 762.2; median: 559; range: 50-4930IU/L) and high parathyroid hormone (PTH) (mean+/-SD: 866.61+/-799.15; median: 639.5; range: 52-3820 pg/ml). Preoperative localization was achieved in 74 patients and single adenoma was found during surgery in 72 patients. Hungry bone disease was seen in 30.3% and transient hypoparathyroidism developed in 62% patients. In comparison to PHPT in children there were no significant differences with regard to clinical, laboratory and radiological features. CONCLUSIONS: PHPT in western India is symptomatic disorder with skeletal and renal manifestations at a much younger age. Clinical profile of PHPT in children is similar to that of adults.

Study of bone mineral density in resident doctors working at a teaching hospital.

CONTEXT: The erratic lifestyle of resident doctors may affect their serum 25-hydroxy vitamin D [25-(OH)D] levels and bone mineral density (BMD). AIM: To study BMD and the effect of environmental factors on it in resident doctors. SETTINGS AND DESIGN: Prospective, cross-sectional study conducted in a tertiary healthcare centre. MATERIALS AND METHODS: BMD was obtained by dual-energy X-ray absorptiometry and was correlated with various factors including weight, height, body mass index (BMI), sun exposure, physical activity, parathyroid hormone, 25-(OH)D, dietary factors. Statistical Analysis : SPSS software Version 10 (Unpaired t test was used to compare BMD of different groups and Pearson's correlation coefficient was used to calculate correlation). RESULTS: Two hundred and fourteen apparently healthy resident doctors were enrolled in the study. Based on Caucasian normative data, osteopenia was noted in 104 (59.7%) males and 27 (67.5%) females. Thirty-two (18.39%) males and five (12.5%) females had osteoporosis. The BMD values of males were 0.947+/-0.086, 0.911+/-0.129 and 1.016+/-0.133 at lumbar spine, femur neck and total hip while those in females were 0.981+/-0.092, 0.850+/-0.101 and 0.957+/-0.103 respectively. BMD of our cohort was lesser by 12.5-18.2% and 4.2-14.5% than the Caucasian and available Indian figures, respectively. BMD had significant positive correlation with weight, height, BMI, physical activity, and dietary calcium phosphorus ratio. 25-(OH)D levels were insufficient in 175 (87.5%) subjects but had no correlation with BMD. CONCLUSIONS: Young healthy resident doctors had significantly lower BMD, contributors being lower BMI, lower height, reduced bioavailability of dietary calcium and inadequate physical activity. Deficiency of vitamin D did not contribute to low BMD.

The value of an acute octreotide suppression test in predicting response to long-term somatostatin analogue therapy in patients with acromegaly.

CONTEXT: The usefulness of the acute octreotide test in the selection of patients with acromegaly for chronic somatostatin depot analogues treatment is controversial. AIMS: To determine the efficacy of acute octreotide suppression test (OST) in predicting response to long-term somatostatin analogue (Octreotide-long-acting repeatable, OCT-LAR) therapy in patients with acromegaly. SETTINGS AND DESIGN: Prospective study (2006-2007) conducted at a tertiary healthcare centre in western India. MATERIALS AND METHODS: Sixteen drug-naive patients with active acromegaly (postoperative+/-post radiotherapy) underwent 50 microg subcutaneous OST. Ten patients were treated with OCT-LAR for one year. Remission was defined as a nadir growth hormone (GH) < 1 ng/ml during 75 g oral glucose tolerance test (OGTT) (0, 10, 30, 60, 120, 180 min) and normal age, sex-matched insulin-like growth factor 1 (IGF1) levels. STATISTICAL ANALYSIS: SPSS Software Version 11 was used for data analysis. RESULTS: Using GH cutoff. CONCLUSIONS: Nadir GH < 1 ng/ml following an OST is a useful predictive marker of achieving disease remission with long-term OCT-LAR therapy.

Fractures in the Maxillofacial Region: A Four Year Retrospective Study.

INTRODUCTION: The incidence of maxillofacial injuries is on the rise due to motor vehicle accidents and increased incidence of violence in recent times. The aim of this retrospective study was to determine the incidence, aetiology, the pattern of fractures, their management with open reduction and internal fixation (ORIF) and complications, if any. METHODS: A retrospective analysis of 621 fractures in 361 patients managed by ORIF over a four year period was carried out. RESULT: The average age of patients was 24.3 years with a male to female ratio of 21.2:1. Panfacial fractures comprised 4.7%, frontal bone fractures 8.9%, orbital fractures 0.7%, naso-orbito-ethmoid complex (NOE) fractures 0.7%, zygomatic complex fractures 23.5%, fracture maxilla 11.5% and mandibular fractures 52.2% of all facial fractures. All the cases were successfully managed by ORIF under general anaesthesia (GA). Complications were noticed in 6.8% of cases in the form of reactive implants in 3.6%, deranged occlusion in 1% and infection at operated site in 1% cases which were managed satisfactorily. CONCLUSION: The findings of this study reveal sharp annual increase in the number of cases of maxillofacial trauma. Road traffic accidents (RTA) were the commonest cause and the age group most affected was between 20-25 years. ORIF of these fractures was chosen for its obvious advantages of direct anatomical reduction, early return to function and minimal complications.

Prevalence of nonalcoholic fatty liver disease in patients with type 2 diabetes mellitus.

OBJECTIVES: Nonalcoholic fatty liver disease (NAFLD) is commonly associated with type 2 diabetes mellitus (DM) though its prevalence is not well studied. We conducted a prospective study of prevalence and risk factors of NAFLD in patients with type 2 diabetes. RESEARCH DESIGN AND METHODS: 204 type 2 DM patients attending an out-patient diabetic clinic underwent abdominal sonography. Ninty of 127 patients with fatty infiltration on ultrasound consented for liver biopsy, clinical and biochemical workup. RESULTS: Eighty seven percent had NAFLD on histology with 62.6% steatohepatitis and 37.3% fibrosis. Age, duration of diabetes mellitus, degree of glycemic control, body mass index, waist circumference, family history of diabetes mellitus, did not predict the presence or severity of NAFLD or fibrosis. Serum alanine aminostranferase (ALT) and alkaline phosphatase levels, though within normal limits, were significantly higher in patients with steatohepatitis. Prevalence of NASH increased with increase in the components of the metabolic syndrome. Serum AST/ALT ratio were also significantly higher (p-0.049) in patients with severe fibrosis. All patients with severe fibrosis had metabolic syndrome. CONCLUSIONS: Prevalence of NAFLD and NASH in our cohort of type 2 DM patients is high and increases with multiple components of metabolic syndrome. NASH and advanced fibrosis can occur in diabetic patients without any symptoms, signs or routine laboratory test abnormalities.

Retrospective Study on Efficacy of Intermaxillary Fixation Screws.

BACKGROUND: We evaluated the efficacy of intermaxillary fixation (IMF) screws in the treatment of mandibular fractures. METHODS: Two hundred patients with mandibular fractures, treated by IMF using these screws, were evaluated by pre and postoperative panoramic radiographs. Clinical testing was carried out for vitality and abnormal mobility of teeth adjacent to the site of screw insertions. Other factors such as possible iatrogenic dental injuries, loss, breakage or screw cover by oral mucosa and postoperative occlusion were also studied. RESULT: The most important complication noticed was iatrogenic damage to dental roots. CONCLUSION: Use of intraoral cortical bone screws for IMF is a valid alternative to arch bars in the treatment of mandibular fractures. Iatrogenic injury to dental roots is the commonest problem which can be minimized by an experienced surgeon.

Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India.

BACKGROUND: Very little is known about the genetics of cystic fibrosis (CF) from the Indian subcontinent. The aims of the study were to identify the mutations and study the relation of genotype with phenotype in Indian children with CF. METHODS: A total of 100 patients with CF were screened for mutations in the CFTR gene. These included c.1521_1523delCTT (p.F508del) and c.3849+10 kb C>T mutations followed by single strand conformation polymorphism/heteroduplex analysis for mutations in 19 out of 27 exons of the CFTR gene. RESULTS: At least one mutation was identified in 40 patients. The most common mutation identified was p.F508del; 20 patients were homozygous and 13 heterozygous. In addition, c.3849+10 kb C>T, c.1161delC, and p.S549N were identified in two patients each and p.R352Q, p.R1158X and p.R75Q were identified in one patient each. Three novel mutations, viz. c.1002-7_1002-5delTTT, p.G149X and p.L183I were also identified. Majority of patients who were p.F508del positive originated from Pakistan and north-western states of India. The phenotypes of all patients were classical. Genotype-phenotype correlation revealed that p.F508del positive patients had a more severe disease, manifesting at an earlier age. CONCLUSIONS: A strategy for mutation screening for CF in India must involve testing for p.F508del followed by c.1161delC, c.3849+10 kb C>T and p.S549N. There is a need for large multicentric studies using more sensitive techniques for the identification of mutations in Indian CF patients.

Characterization of adult onset growth hormone deficiency syndrome in patients with hypothalamopituitary diseases: Asian Indian data.

BACKGROUND: Hardly any data is available on Adult onset growth hormone deficiency (AOGHD) in Patients with hypothalamopituitary diseases in India. AIMS: To characterize Asian Indian AOGHD syndrome in hypothalamopituitary diseases. SETTINGS AND DESIGN: Cross-sectional analysis of data from a tertiary care hospital. MATERIALS AND METHODS: Thirty patients with AOGHD were compared with 30 age-, sex-, body mass index-matched controls with respect to endocrine evaluation, biochemistry, body composition (BC), bone mineral density (BMD), cardiovascular risk profile and quality of life (QoL). STATISTICAL ANALYSIS USED: Comparisons were performed using two-tailed Student's test (SPSS Software version 10.0). RESULTS: Most of the patients had abnormal BC with central obesity [Truncal FM (%): males {33.9+/-4.4 (patient) vs. 29.31+/-6.2 (control); P -0.027}; females {39.87+/-5.93 (patient) vs. 35.76+/-3.16 (control); P - 0.025}] and poor QoL. Patients aged over 45 years did not show low bone mass or lipid abnormalities as compared to controls. Low BMD and abnormal lipid profile {Triglycerides [mg/dl]:170.55+/-72.5 (patient) vs101.24+/-31.0 (control); P -0.038}; {very low density lipoprotein cholesterol [mg/dl]: 33.54+/-14.9 (patient) vs. 20.25+/-6.18 (control); P - 0.05} was seen in female patients less than 45 years of age. CONCLUSIONS: Male and female (more than 45 years) AOGHD patients have increased cardiovascular risk factors and poor QoL while BMD is unaffected. Females less than 45 years of age have the major characteristics of AOGHD and would be the group to benefit maximally with recombinant human Growth Hormone treatment, which is similar to that in the western literature.

Central diabetes insipidus: clinical profile and factors indicating organic etiology in children.

OBJECTIVE: To evaluate the profile of children with central diabetes insipidus (DI) and identify factors indicating organic etiology. DESIGN: Retrospective chart review. SETTING: Tertiary referral hospital. SUBJECTS: Fifty-nine children with central DI (40 boys, 19 girls). METHODS: Features of organic and idiopathic central DI were compared using students t test and chi square test. Odds ratio was calculated for factors indicating organic etiology. RESULTS: Diagnosis included post-operative central DI (13, 22%), central nervous system (CNS) malformations (5, 8.6% holoprosencephaly 4 and hydrocephalus 1), histiocytosis (11, 18.6%), CNS pathology (11, 18.6%; craniopharyngioma 3, empty sella 2, germinoma 2, neuro-tuberculosis 2, arachnoid cyst 1 and glioma 1) and idiopathic central DI (19, 32.2%). Children with organic central DI were diagnosed later (7.8+/- 3.1 years against 5.3+/-2.4 years, P=0.03) and had lower height standard deviation score (-2.7+/-1.0 versus -1.0+/- 1.0, P<0.001) compared to idiopathic group. A greater proportion of children with organic central DI had short stature (81.8% against 10.5%, P <0.001, odds ratio 38.25), neurological features (45.5% against 0%, p 0.009) and anterior pituitary hormone deficiency (81.8% against 5.3%, P<0.001, odds ratio 81) compared to idiopathic group. A combination of short stature and onset after five years of age led to discrimination of organic central DI from idiopathic group in all cases. CONCLUSION: Organic central DI should be suspected in children presenting after the age of five years with growth retardation and features of anterior pituitary deficiency.

Management of Mandibular Fractures.

BACKGROUND: To evaluate the cases of mandibular fractures treated by open reduction and rigid fixation at the Armed Forces Medical College, Pune. METHODS: Two hundred and thirteen mandibular fractures cases were treated by open reduction and rigid fixation from Jun 1998 to Jun 2006. These were retrospectively analyzed based on the following patient related factors i.e. mode of injury, age and sex distribution, site of injury, associated injuries and surgical treatment. RESULT: The significant finding was that the most common etiology for fracture mandible was road traffic accidents (RTA), [196 (92%)]. Of the patients who reported, 147 (95.4%) were males in the third decade of life. 96 (45%) patients had parasymphysis fractures, 65 (30.5%) had angle fractures, 33 (15%) subcondylar fractures, 17 (7.9%) body fractures and 2(0.9%) had ramus fracture. Early intervention using open reduction and internal fixation was the protocol followed which resulted in minimum morbidity and complications. CONCLUSION: As RTA especially two wheelers accidents appeared to be the most common cause of mandibular fractures, use of suitably designed protective head gear (crash helmets) is advisable. Moreover open reduction and rigid internal fixation appears to be the suitable treatment modality in successful treatment of mandibular fractures in reducing morbidity and complications and ensuring early return to normalcy.

Growth pattern and final height in 21-hydroxylase deficiency.

Growth pattern and final height were evaluated in 47 children with 21-hydroxylase deficiency to identify factors influencing growth. The subjects were followed-up from the age of 0.6 +/- 1.2 years for 8.8 +/- 3.9 years. Final height SDS was significantly below target height SDS (- 2.5 +/- 1.4 versus - 1.0 +/- 1.0, P < 0.001). Laboratory monitoring and type of disease (salt-wasting or simple virilizing) significantly influenced age-specific height SDS. Age at treatment, frequency of laboratory monitoring and dose of glucocorticoid during infancy influenced final height on univariate analysis; the effect was not sustained on multivariate analysis. Our study emphasizes the need for regular laboratory monitoring and lower glucocorticoid dose during infancy in 21-hydroxylase deficiency.

Serum leptin levels in obese Indian children relation to clinical and biochemical parameters.

OBJECTIVE: To evaluate serum leptin levels in obese Indian children and its correlation to anthropometric and biochemical parameters. DESIGN: Cohort study. SETTING: Referral tertiary hospital. METHODOLOGY: Leptin levels were measured in 36 children (26 boys, age 1.5 to 15 years) and 37 adults (21 men, age 25 to 69 years) with obesity and 29 normal weight controls (15 children and 14 adults). RESULTS: Leptin levels were higher than controls in obese children (19.4 +/- 6.4 ng/mL against 5.4 +/- 1.7 ng/mL, p = 0.0001) and obese adults (18.9 +/- 6.4 ng/mL against 7.8 +/- 5.6 ng/mL, p = 0.0001). Leptin levels were higher than males in obese girls (23.5 +/- 1.7 ng/mL against 18.0 +/-7.6 ng/mL, p = 0.040) and women (21.3 +/- 4.4 ng/mL against 15.8 +/- 7.4 ng/mL). Leptin levels correlated with body mass index, waist circumference and waist to-hip ratio. A positive correlation was observed between serum leptin and cholesterol, triglycerides and LDL-cholesterol. No correlation was seen with fasting blood glucose and HDL-cholesterol. CONCLUSIONS: Leptin levels correlate significantly with anthropometric and laboratory parameters in obese children. There is a need for further studies on the role of leptin in childhood obesity and metabolic syndrome.

Combination growth hormone and gonadotropin releasing hormone analog therapy in 11beta-hydroxylase deficiency.

Diagnosis of 11beta-hydroxylase deficiency was made in a boy at the age of 2 1/2 years on the basis of peripheral precocious puberty, growth acceleration (height standard deviation score +4.4) with advanced skeletal maturation (bone age 8.4 years) and elevated deoxycortisol levels. Glucocorticoid supplementation led to normalization of blood pressure but was associated with progression to central precocious puberty and increase in bone age resulting in decrease in predicted adult height to 133.7 cm (target height 163 cm). The child was started on GnRH analog (triptorelin 3.75 mg every 28 days), which led to improvement in predicted adult height by 3.1 cm over 15 months. Addition of growth hormone (0.1 IU/kg/day) resulted in improvement in predicted adult height (151 cm) and height deficit (12 cm) over the next 3.6 years. Final height (151 cm) exceeded predicted height at the initiation of GnRH analog treatment by 17.3 cm. This report suggests that combination GH and GnRH analog treatment may be useful in improving height outcome in children with 11beta-hydroxylase deficiency and compromised final height.

Ovarian cysts in young girls with hypothyroidism: follow-up and effect of treatment.

Ovarian cysts have been reported in girls with longstanding uncompensated primary hypothyroidism. Restoration of euthyroid state has been associated with resolution of these cysts; long-term follow-up of these patients is however lacking. We evaluated the outcome in ten girls with ovarian cysts and hypothyroidism managed at our hospital with special emphasis on subsequent pubertal development and ovarian imaging. Patients were diagnosed at the age of 8.6 +/- 2.3 years (mean +/- SD) with severe uncompensated primary hypothyroidism (TSH levels >100 mIU/l in all; 509.3 +/- 651 mIU/l) and growth retardation (height SDS -4.1 +/- 1.8). Nine girls had vaginal bleeding at diagnosis; five also had thelarche. LH and FSH levels were prepubertal in all patients. Ovarian cysts were bilateral in eight girls (80%); internal septation was noted in six. Thyroxine replacement (4.1 +/- 0.7 microg/kg/day) led to normalization of TSH levels with reversal of pubertal changes and regression of ovarian cysts in all patients 2.2 +/- 1.0 months after treatment. At last follow-up 3.5 +/- 2.6 years after initiation of treatment at the age of 12.0 +/- 2.3 years, all patients had normal ovarian size in ultrasound evaluation with six girls progressing to normal puberty. Our study emphasizes the need to exclude hypothyroidism in young girls with ovarian cysts. Identification of hypothyroidism in these girls obviates the need for extensive investigations.

Growth pattern and skeletal maturation following growth hormone therapy in growth hormone deficiency: factors influencing outcome.

OBJECTIVE: To evaluate pattern of growth and skeletal maturation following growth hormone (GH) therapy in children with GH deficiency (GHD) with special emphasis on factors influencing outcome. METHODS: Records of ninety-six children (67 boys, 29 girls) with GHD treated with GH for 2.3 +/-2.1 years were reviewed. RESULTS: Height SDS at the end of treatment was significantly higher than that at initiation (-3.4 +/- 1.7 versus -4.8 +/-1.6, P < 0.001); it was however lower than target height SDS (corrected height SDS (1.8 +/- 1.6, P < 0.001). The greatest increase in height SDS was observed during the first two years of treatment. Kaplan Meier survival analysis showed that 92%; of all subjects achieving end height SDS in the target height range did so within the first two years of treatment. Height SDS for bone age increased by 0.7 +/-0.9 during treatment (from -2.5 +/- 1.0 to -1.8 +/- 1.5, P < 0.001); the increase was however lower compared to that for height SDS for chronological age (P < 0.01) suggesting inadvertent skeletal maturation. End height SDS was influenced by duration of treatment and corrected height SDS on multivariate analysis. CONCLUSION: GH treatment improves growth parameters in GHD; height however still remains compromised. Most of the catch-up growth occurs within two years of treatment emphasizing the need of optimal treatment during this period. Inadvertent skeletal maturation during treatment indicates a need for evaluating the role of agents effective in retarding skeletal maturation.

Secondary and Delayed Bone Grafting in Alveolar and Anterior Palatal Clefts.

BACKGROUND: Surgical repair with suitable bone graft / substitutes plays an important role in rehabilitation of individuals with residual anterior palatal or alveolar defects associated with an oronasal fistula. METHODS: 52 cases were treated by secondary or delayed bone grafting of the alveolar defects in isolation or associated with defects of the anterior palate from July 2002 - Nov 2004. Dimension and the extent of the defects were assessed with the help of radiographs & maxillofacial CT. Cephalometric analysis, presurgical orthodontics and dentofacial orthopedics preceded surgical repair with cancellous graft from the iliac crest, followed by post surgical orthodontics and prosthetic rehabilitation. RESULT: Satisfactory results were achieved in 49 cases with three cases showing failure of graft acceptance. Postoperative clinical and radiological evaluation for all the patients was done at an interval of one, three and six months. Bone density and trabeculation was comparable to the adjacent bone within six months. CONCLUSION: Recreating the bony continuity of the maxillary arch followed by orthodontic correction of dental discrepancies achieves a comprehensive orthosurgical correction.

Fetal Hyperthyroidism: Intrauterine Treatment with Carbimazole in Two Siblings.

Hyperthyroidism can manifest very early in fetal life (fetal thyrotoxicosis) or immediately after birth (neonatal thyrotoxicosis). The authors describe outcome of pregnancies in a woman with Graves' disease who received medical management and underwent subtotal thyroidectomy. The first pregnancy resulted in macerated stillbirth at 32 wk. Fetal tachycardia was followed by intrauterine death at 30 wk in the second pregnancy and macerated stillbirth at 26 wk in the third pregnancy. Fetal tachycardia was detected at 17 wk in the fourth pregnancy. Treatment with carbimazole along with thyroxine was followed by a live birth at 35 wk; but the baby developed severe fatal neonatal thyrotoxicosis with crisis on day 9 and died on day 12. Fetal tachycardia was noted in the fifth pregnancy as well and she was treated with carbimazole and thyroxine. She delivered a male baby at 37 wk. He developed neonatal hypothyroidism on day 8 which was controlled with thyroxine.

Hypothalamo-pituitary axis by magnetic resonance imaging in isolated growth hormone deficiency patients born by normal delivery.

Magnetic resonance imaging was performed using a 1.5 Tesla magnet in 22 children (14 boys and 8 girls) between 5-20 yr of age with isolated GH deficiency (IGHD), born by normal vaginal delivery without any birth asphyxia or trauma. A total of 22 children (10 boys and 12 girls) without short stature and endocrine disease were evaluated as controls. The IGHD group had a height velocity less than 4 cm/yr and delayed bone age. The peak GH levels were less than 10 micrograms/L (mean, 2.4 micrograms/L). The height of the pituitary gland ranged from 3-7.5 mm in controls. An intact stalk was observed in 21 children with IGHD, with nonvisualization in 1. An apparently thin stalk was seen in 6. The posterior lobe identified by the hyperintensity signal, had a mean diameter of 1.84 mm and was located in a normal position in 21 children. An ectopic posterior pituitary hyperintensity was present in 1 patient. The anterior pituitary was hypoplastic in 17 children, with partial empty sella in 13. A total of 5 children had associated brain anomalies, such as Arnold Chiari malformation, craniovertebral malformation with basilar impression, degenerative plaques around posterior horn of lateral ventricle and parietal area, and infarcts in caudate nucleus and putamen. These findings suggest that IGHD was not related to transection or compression of the stalk.