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A rare form of the 46,XY disorders of sex development (DSD), 5α-reductase deficiency was first described in patients with pseudovaginal perineoscrotal hypospadias, microphallus, and cryptorchid testes in 1974 by Imperato. This undervirilization in the male is due to an alteration in the 5α-reductase type 2 gene (SRD5A2), which encodes for 5α- reductase activity. Our registry of 750 patients with DSD showed no definitive diagnosis in 80% of cases with 46,XY DSD. Our aim is to identify mutations in SRD5A2 gene and to describe phenotype of detected mutative cases. Mutation analysis was performed for genomic DNA extracted from WBC of 10 patients with 46,XY DSD using PCR and direct sequencing. We identified mutations of SRD5A2 gene in two cases. The first case presented with isolated micropenis at birth, two palpable testes in the normal scrotum. Pelvic ultrasound showed no ovaries and uterus, karyotype was 46,XY and SRY was positive. Serum FSH level was 2.4 UI/L; LH level was 0.9 UI/L and testosterone level was 0.4 nmol/l at 8 years of age. A homozygous missense mutation (p.R237G) was identified in the SRD5A2 gene. The second case presented with microphaslus, penoscrotal hypospadias, gonad bilateral in labioscrotal folds. No uterus and ovaries were found by pelvic ultrasound. Karyotype was 46,XY and SRY was positive. A novel homozygous missense mutation (c.659C>T; p.S220L) was identified in the SRD5A2 gene. Mutation analysis of SRD5A2 gene helps to make definitive diagnosis for patients with 46,XY DSD.

Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It includes a group of autosomal recessive disorders caused by the deficiency of one of the enzymes involed in one of the various steps of adrenal steroid synthesis. 3b-Hydroxysteroid dehydrogenase (3b-HSD) deficiency is a rare cause of CAH caused by inactivating mutations in the HSD3B2 gene. Most mutations are located within domains regarded crucial for enzyme function. Our aim is to describe phenotype and to identify mutations of HSD3B2 in two classic b-HSD deficient patients belonging to two apparently unrelated pedigrees. This is a case series study. Family history and clinical manifestations were described. Genomic DNA from these patients was extracted using standard procedures from the peripheral blood leukocytes. Mutation analysis of HSD3B2 was performed using Polymerase chain reaction (PCR) and DNA direct sequencing. Vietnamese 46,XY newborn referred at 2,5th month of life with salt loss associated with hyponatremia (123 nmol/L) and hyperpigmentation. The testes were palpable in the scrotum but associated with a severe hypospadias (micropenis 0.5 cm; posterior). At 4 months of age, a second adrenal crisis has occurred with hyponatremia 127 nmol/L and increased 17OH-Progesterone (26,8 ng/ml) in this 46, XY DSD. This clinical and biological data associated with a sibling with female phenotype deceased at 18 months old after adrenal crisis (1 occurred at 7 days of life) suggest the diagnosis of 3b-HSD deficiency. The sequencing of HSD3B2 confirms the diagnosis because he is homozygous for a missense mutation, pAla161Pro. This mutation affects an aminoacid conserved in all species and is located in one two ahelix involved in the dimerization of the two sub-units of the enzyme. The changing from Alanine to Proline could break the alpha-helix. The same mutation has been found in the other Vietnamese family. The 46,XY newborn referred at 3th month of life with severe dehydration associated with hyponatremia (93 nmol/L) and hyperpigmentation. The testes were palpable in the scrotum but associated with a severe hypospadias (micropenis 0.5 cm; posterior). Clinical presentation and increased 17OH-Progesterone (9.7 ng/ml) in this 46, XY DSD suggest the diagnosis of 3b-HSD deficiency. The sequencing of HSD3B2 also confirms the diagnosis because he is homozygous for a missense mutation, pAla161Pro. The severity of this mutation correlates well with the phenotype in these patients. Parents of two unrelated pedigrees are not consanguinity. This study contributes to a better understanding of the molecular defects of 3bHSD and of the phenotypic heterogeneity of CAH related to 3b-HSD deficiency. Written informed consent was obtained from the patient for publication of this Case report (and any accompanying images). A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Classic Bartter syndrome is characterized by early childhood onset. Herein, we report two Vietnamese siblings affected classic Bartter syndrome.

LCH is the rare disease involving clonal proliferation of Langerhans cells, abnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes. The clinical presentation of LCH may occur in multiple organs: bone, skin, lymph nodes or pituitary gland, but clinical presentation of LCH rarely occurs in multiple endocrine systems. We presented a special case who was diagnosed with LCH and presentation of LCH occurred in multiple systems: pituitary gland, thyroid, adrenal gland. A 11 years old girl was hospitalized for lump on the neck. Past history: one year ago, she was diagnosed with autoimmune polyendocrine syndromes and treated with hormone replacement (levothyroxine 3mcg/kg/day, desmopressin 4 mcg/kg/day, hydrocortisone 10 mcg/kg/day). Physical examination showed: she had a swollen lump on her neck, she had a temperature of 38° C. She had no polyuria, no polydipsia. Her height was 141cm (-0.29 SD); her weight was 37 kg; her BMI was 18.5 (50th – 70th) .She had normal growth velocity and normal pubertal development. Laboratory evaluation revealed : WBC : 10.3 × 109 /l ( normal range : 4×10 9 /l – 10 ×109 / l) ; CRP : 105.78 mg/l ( normal range : < 10 mg/l ); serum cortisol at 8 a.m : 16.3 nmol/l ( normal range : 200 – 600 nmol/l ); T3 : 1.8 nmol/l ( normal range : 1 – 3 nmol/l ), T4 : 135.9 nmol/l ( normal range : 50 – 150 nmol/l ), TSH : 0.002 mUI/ml ( normal range : 1 – 5 mUI/ml ); blood osmotic pressure : 279 moms/kg, urinary osmotic pressure : 127 mosm/kg; plasma glucose level and electrolyte were normal. An MRI of brain showed: thickened pituitary stalk. A biopsy of the lump on her neck showed: features of Langerhans Cell; skeletal and long bone radiograph showed no osteolytic lesion. She was treated with hormone replacement and chemotherapy. Written informed consent was obtained from the patient's parent or guardian for publication of this Case report (and any accompanying images). A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Management and life expectancy for patients with diabetes mellitus type 1 (DM 1) is significantly improved. Long-term complication of the disease such as eye and renal complication have been paid much attention because it is an important cause of blindness and renal failure.

Osteogenesis imperfecta (OI) is an inherited bone and connective tissue disorder associated with the lifelong occurrence of frequent fractures following even mild trauma. Hearing loss is frequently reported in patients with OI. Objective: to examine the ratio of hearing loss in children with OI, and the relationship between audiological findings and CT images of temporal bone in children with OI. Subject and methods: forty – two children aged 5 to 17 years with OI were included in the study. The patients have type A of tympano and were mesured thresold of hearing by play audiometry. CT imaging was performed in 8 cases as well. Imaging abnormalities were correlated with clinical phenotypes and severity of hearing loss deduced from audiograms. Results: Hearing loss of all etiologies was observed in 28.05 % of ears in studied OI patients. Sensorineural and mixed hearing loss was observed in 4.88% and conductive hearing loss was detected in 23.17% of ears. CT revealed bone – bridge image in the middle ear (10/16 ears), hypodense foci in the fissula ante fenestram (4/16 ears) and cochlear (2/16 ears), abnormal stape ( 5/16 ears). Conclusions: hearing loss in children with osteogenesis imperfecta is quite frequent. We have all type of hearing loss, but the conductive of hearing loss have highest ratio. The site of abnormal on temporal bone CT images in OI corresponds to presence and type of hearing loss determined by audiometry.

Germ cell tumors in the central nervous system affect children and adults, the peak incidence is from 10 -19 years of age. Clinical presentation is mainly involving to the location and size of the tumor and the patient age. Endocrine abnormalities are the most common symptom. We presented a case who had hypopituitarism due to central nervous system Germinoma. A 10 years old girl was admitted to our hospital due to polyuria . Past history : she was diagnosed with diabetes insipidus and treated with oral minirin ( desmopressin ) 3 years ago. But she did not taken oral minirin for 2 years ago. Physical examination showed : polyuria ( 8 ml/kg/h ), polydipsia, no dehydration, no weight gain. Her height was 131 cm ( -0.5 SD ). Her weight was 41 kg. Her BMI was 23.9 ( > 97th ). She had no manifestation of puberty. Laboratory evaluation revealed : blood osmotic pressure : 304 mosm/kg (normal range : 275 mosm/kg – 295 mosm/kg ), urinary osmotic pressure : 80 mosm/kg ( normal range : 500 – 1200 mosm/kg); serum cortisol at 8 a.m : 9.2 nmol/l ( normal range : 200 – 600 moll/l ); plasma glucose level and electrolyte were normal; T4 : 38.8 nmo/l ( normal : 50 -150 nmol/l ), T3 : 2.35 nmol/l (normal range : 1 – 3 nmol/l ), TSH : 4.1 mcUI/ml ( normai range : 1 – 5 mcUI/ml ); LH : 0.16 UI/ ml (normal range : 0,5 – 9,9 UI/l ),, FSH : 0.9 UI/ml (normal range : 1,4 – 5,6 UI/l), Estradiol < 43.3 pmol/l ( normal range : 97 – 169 pmol/l ). An MRI of brain showed: an under hypothalamic mass measuring 14 × 20 mm, suspected Germinoma. She was treated with hormone replacement (desmopressin, levothyroxine, hydrocortisone) and radiation therapy. Written informed consent was obtained from the patient's parent or guardian for publication of this Case report (and any accompanying images). A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Adrenocortical tumour have been described in patients with 21-hydroxylase deficiency. These tumours are usually considered to be ACTH – dependent, as diffuse adrenal cortical hyperplasia is commonly seen. We report adrenal cortical tissue tumours developed in three patients with untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. All of them had symptoms of adrenogenital vililizing syndrome. A diagnosis of adrenocortical tumour was established by the symptoms, hormonal profile, ultrasonography, and adrenal CT scan. Two of the tumours were located in the right side, all the patients were performed surgery before hormonal replacement therapy because of evidence of secreated adrenal tumors, and the histological diagnosis indicated an adrenocortical adenoma. After removal of tumours, the size of adrenal gland was monitored by serial ultrasonography, and the congenital adrenal hyperplasia was confirmed by extremely high levels of basal serum testosterone, 17-OHP levels, increasing virilizing syndrome after surgery, diffuse hyperplasia of adrenal gland and identified mutations in CYP21A2 gene.

The incidence of Congenital Adrenal Hyperplasia (CAH) in some Asian countries is far higher than in Australia, (eg 1:6000 as per the Filipino Newborn Screening Program). For many families in low and middle-income countries in Asia resources are limited, affordable and reliable access to essential medicines is problematic, and families living remotely are required to travel long distances for medical care [1]. CAH is associated with significant physical & psychosocial consequences for affected children & their families where treatment is suboptimal, so there are important equity implications for the global CAH and paediatric endocrinology communities to consider. Health education is an integral component of health care in any setting. “CAHPepTalk” is an educational resource that was developed initially for CAH families in Australia. This validated educational resource has been produced in DVD format and can be facilitated by one health professional. The program includes a translated validated CAH Knowledge Assessment Questionnaire (CAHKAQ) [2], to enable staff to assess patient knowledge in order to evaluate educational needs. In collaboration with CLAN (Caring & Living As Neighbours), an Australian NGO committed to optimal quality of life for all children living with chronic health conditions), translation of “CAHPepTalk” into Vietnamese & Indonesian was undertaken, & distributed to CAH Communities in the Asia-Pacific region, was supported by CLAN. Knowledge of parents of children with CAH in Vietnam and Indonesia was assessed prior to families attending education programs run at CAH Club meetings supported by CLAN, in 3 settings: Hanoi, Ho Chi Minh City & Jakarta. 260 questionnaires have been completed by parents. The results to be presented will include knowledge, management & demographics. Using the CAHKAQ is the first step in the education process in order to improve health outcomes for families in any setting, within Australia, Vietnam or Indonesia.

The adrenal cortex tumors (ACT) include both malignant adrenal cortex cancers and benign masses that can be either secreting, of one of the hormones normally produced in the adrenal cortex or non-secretory. We describe clinical features and laboratory finding of patients with adrenal cortex tumors. This is a case series report. 29 cases of childhood with adrenal cortex tumors treated at the Vietnam National Hospital of Pediatrics in a period of 1995–2011 have been reviewed in detail the presenting features and laboratory. The study recruited 15 boys and 14 girls. The median age at diagnosis was 4.97 ± 3.61 yrs (range, 20 days to 14 yrs); 19 patients were younger than 5 yrs. Hypertension and cushingoid features were common in patients (62%, 58.6%), virilization was presenting feature in 44.8% of the group. An abdominal mass was palpable in 20.7 % of the patients. High level of testosterone was common in patients (94.1%). 30% of the patients had hypercotisonemia. All tumors were unilateral; the right adrenal glands predominated over left (1.9 :1). 62.5 % tumors over 4 cm. 22 patients had received operation to remove the tumors: 11 carcinoma, 2 adenocarcinoma. In conclusion, high percentage of patients had malignant tumors among ACT operated patients.

Congenital adrenal hyperplasia (CAH) is a common hereditary disease in the National hospital of pediatrics (NHP). CAH is treated with hormone replacement therapy for life. It is necessary to evaluate treatment outcome in order to have monitoring method and further treatment plan. Thus we study the treatment results and factors affecting treatment outcome of children with CAH being treated in the NHP. This is descriptive study. All patients diagnosed CAH being treated and monitored for more than one year at the NHP from July 1990 to July 2010. In our patient group, good outcome: 80/124 (64.52%), not good outcome: 44/124 (35.48%). Treatment outcome of patients diagnosed at the age of less than 1 year was 13.7 times better than patients diagnosed at the age of more than 1 year. Treatment outcomes were not different between males and females. Treatment outcome of a salt wasting form was 11.26 times better than that of a simple virilisation form. The group receiving a full dose had treatment results in 66.7%. A good compliance group had better treatment outcome by 8.56 times compared to that of a non-compliance group. These results of treatment depend on the age of diagnosis, using appropriate doses of hydrocortisone and treatment compliance.

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder due the lack of expression of paternally inherited imprinted genes on chromosome 15q11-13. Clinical presentation includes hypotonia, hyperphagia, obesity, hypogonadism, learning difficulty. We studied clinical and laboratory of patient diagnosed and treated in National Hospital of Pediatrics, Hanoi (NHP). This is descriptive study. We collected 26 patients diagnosed of PWS by FISH in NHP from December 2007 to April 2012 were recruited in the study. Male/female ratio was 6/1. Patients diagnosed before 5 years occupied 53.5%. 85.7% of patients were found to have hypotonia at age of 4.92.0 months. 86.4% of patients had hypherphagia at age of 20.711.1 months. In patients aged of > 2 years, height SDS was +8.74.7 SD compared to gender and age. The figure of BMI was +10.33 SD. 4/7 of patients aged ≥ 6 years had micropenis. 91.7% of patients had cryptorchidism. 4/24 of patients (14.3%) had type 2 diabetes mellitus. Based on clinical presentation, more PWS patients could be diagnosed and treated early.

X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. X-ALD is panethnic and affects approximately 1:20,000 males. This disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency. We aim to describe the clinical, laboratory and cerebral MRI characteristics of Vietnamese patients with X-ALD and to identify mutations of ABCD1 in these cases. Clinical features, biochemical finding and cerebral MRI lesions of 9 cases from 7 unrelated familes were studied. Genomic DNA from these patients was extracted using standard procedures from the peripheral blood leukocytes. Mutation analysis of ABCD1 was performed using Polymerase chain reaction (PCR) and DNA direct sequencing. Among these patients, two families had two children with X-ALD, the others were unrelated but one case had family history of X-ALD (his maternal grand mother has a sister whose two sons having paralysis for more than 1 year, hyper-pigmentation and died at the age of 7 and 12 yrs). Endocrinology symptoms of adrenal insufficiency were observed in 8/9 cases; 7/9 cases showed neurological symptoms of cerebral ALD or adrenomyeloneuropathy; 2/9 cases had only symptoms of chronic adrenal insufficiency and no neurological symptoms until 12 and 5 years of age, respectively. 8/9 cases had serum cortisole and ACTH measured confirmed adrenal insufficiency. 8/8 cases showed increased plasma VLCFA. Neuroimaging studies (cerebral MRI) showed classical posterior pattern in 7 cases who had neurological symptoms and normal pattern in 2 cases without neurological manifestations. We identified 7 different mutations of ABCD1 in 9 patients. Of which, four novel mutations [c.1202G>T (p.Arg401Trp); c.1208T>A (p.Met403Lys); IVS8+28-551bp del; and the extent of deletion included between IVS1+505 and IVS2+1501, containing whole the exon 2 (4243bp), plus insertion of 79bp from BAP31 and 8bp from unknown origin in this deleted region] were identified in four unrelated patients with neurological symptoms. The reported mutation c.1628C>T (p.Pro543Leu) was identified in two cases (sibling: elder had no neurological symptoms and younger had progressive neurological disability). The reported mutation c.1553G>A (p.Arg518Gln) was found in a boy without neurogical symptoms at 5 years of age. The reported mutation c.1552 C>T (p.Arg518Trp) was identified in two cases (sibling: both have adrenal insufficiency and neurogical symptoms). For the first time, mutations in ABCD1 are identified in X-ALD Vietnamese patients. Despite many mutations having been identified in patients with these clinical phenotypes, the genotype-phenotype correlations have not been clarified.

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystem clinical manifestations. In the present study, we analyzed the EIF2AK3 gene in a 64 day-old-girl WRS patient and his parents to study the clinical features, the mechanism for genetic onset of WRS and provide credible genetic counseling for prenatal diagnosis in his family. Based on analysis of a 64 day-old-girl’s clinical symptoms associated with biochemical examination, the diagnosis of WRS was therefore made. Genomic DNAs were extracted from peripheral blood leukocytes from the patient and her parents with their informed consent for genetic studies. The coding and flanking intronic regions of the EIFAK3 gene was analysed by sequencing. In a result, the patient had gestation age of 41 weeks, birth weight of 3200 g, and onset of the disease at 64 days of age. She was admisted with the features of convulsion, anemia, jaundice, diabetic ketoacidosis with pH of 7.27, HCO3- of 17.8 mmol/l, BE of -8 mmol/l, blood glucose 42.46 mmol/l, HbA1C 6.5 %, total bilirubin 59.2µmol/l, direct bilirubin 29.7 µmol/l, AST 3741.2 U/l, ALT 1927 U/l. PCR of CMV, EBV, HAV were negative. Abdominal ultrasound did not find any sign of cholestasis. Sequencing analysis of patient’s EIF2AK3 gene has identified a homozygous missense mutation, p.R632W. The parents are carriers of heterozygous EIF2AK3 missense mutation, p.R632W. In conclusion, combining mutation screening of EIF2AK3 gene with clinical manifestations and effective examination may provide a reliable diagnostic method for patients.

Congenital hypothyroidism (CHT) is a common endocrine disease in children. The disease should be monitored and required longlife hormone replacement therapy. Is necessary to assess the metal status and affecting factors to help in management and long-term follow-up for children with CHT. So we review the factors which affect the mental development in children with CHT. The study recruited 70 children who were diagnosed CHT in National Hospital of Pediatrics from August 2001 to August 2011. It was a descriptive and cohort study. In this study, children were treated before 3 months of age have mental development as well as healthy children at the same age. In children diagnosed and treated between 3 months to