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The article presents a case study of a Japanese patient who was diagnosed with permanent neonatal diabetes mellitus (PNDM) caused by ABCC8 gene mutation. A heterozygous missense mutation was detected through sequencing analysis. It mentions that the mutation was controlled with oral glibenclamide therapy.

The article describes the case of q 15-year-old Japanese male with spondyloepiphyseal dysplasia tarda (SEDT) due to a novel intragenic deletion of trafficking protein particle complex 2 (TRAPPC2). Topics discussed include the patient's pedigree and longitudinal growth record, radiographs of his lateral lumbosacral spine and the schema of his TRAPPC2 genomic organization and partial sequences of polymerase chain reaction (PCR) products.

The article presents a case study of a 4-month-old boy admitted to a hospital, a Japanese infant with nephrogenic diabetes insipidus (NDI) having a novel deletion mutation of the AVPR2 gene. He was diagnosed as having congenital NDI. It informs that management was started by intravenous and oral fluid administration.

Thyroid function in patients with chronic thyroiditis (CT) varies depending on the clinical course. Serum antithyroglobulin antibody (TgAb) and antithyroid peroxidase antibody (TPOAb) levels may be used to predict hypothyroidism in CT. In this retrospective cohort study, patients with CT, defined as having a high TgAb or TPOAb value, were divided into a hypothyroid group (HG) and euthyroid group (EG), after a mean follow-up of 2.5 years. The definitions of the two groups was based on the maximum TSH value from the initial measurement to the most recent follow-up: HG was defined as TSH 10.0 μIU/mL or higher, and EG was defined as TSH < 10.0 μIU/mL. There were 20 and 113 patients in the HG and EG, respectively. There were no significant differences in age, sex, underlying diseases, or TgAb and TPOAb levels between the groups. Receiver operating characteristic curve analyses of TgAb and TPOAb values for predicting thyroid function showed areas under the curve of 0.714 and 0.757, respectively. The value with the highest diagnostic accuracy was 106 IU/mL for TgAb and 16 IU/mL for TPOAb. Thus, TgAb > 106 IU/mL and TPOAb > 16 IU/mL may predict hypothyroidism in children and young adults with CT. [ABSTRACT FROM AUTHOR]

Patients with diffuse congenital hyperinsulinism (CHI) refractory to drug therapy require subtotal or near-total pancreatectomy. Although almost all patients develop diabetes postoperatively, the clinical course and timing of insulin therapy remain unclear. A 7-yr-old girl presented with recurrent hypoglycemia shortly after birth and a relatively elevated insulin level, which confirmed the diagnosis of CHI. Genetic analysis revealed compound heterozygous ATP-binding cassette, Subfamily C, Member 8 pathogenic variants and diffuse CHI was suspected. Because her condition was refractory to diazoxide and octreotide, she underwent a subtotal pancreatectomy at the age of 4 mo. The drug therapy was discontinued. Although an oral glucose tolerance test at the age of 2 yr showed hyperglycemia after loading, continuous glucose monitoring (CGM) revealed that her daily glucose trends were almost within the 70-180 mg/dL range, and mild hypoglycemia appeared during the daytime. After the age of 6 yr, CGM showed an elevation in glucose trends from midnight to early morning, suggesting that insulin secretion was attenuated and hepatic glucose production was insufficiently suppressed. Insulin therapy was initiated at the age of 7 yr. These results indicate that CGM can be useful for making treatment decisions. [ABSTRACT FROM AUTHOR]

21-hydroxylase deficiency (21-OHD) is the most common type of congenital adrenal hyperplasia. Phenotypically, 21-OHD can be divided into classical and non-classical (NC) forms. The genotype-phenotype correlation in 21-OHD is well established. The P30L mutation is usually associated with the NC form and common among Japanese patients with the NC form of 21-OHD. Herein, we report the clinical course of four patients with 21-OHD with the P30L mutation on one allele and loss-of-function variants on the other allele. Contrary to the findings of most previous studies, all patients were treated with hydrocortisone, and two required fludrocortisone therapy in early childhood. The management strategies for patients with 21-OHD, especially those with the P30L mutation on at least one allele, should be determined based on the clinical phenotype predicted by the CYP21A2 genotype and individual clinical symptoms and biochemical data. [ABSTRACT FROM AUTHOR]

A letter to the editor about Bird fancier's lung (BFL), a type of hypersensitivity pneumonia (HP), is presented.

Disorders of sex development (DSD) are a group of congenital conditions presenting with differences in the chromosomal, gonadal, or anatomic sex development. Evaluating the chromosomes, gonads, and internal and external genitalia of the patients is important for understanding DSD. Furthermore, confirming the presence of a uterus is essential for the assessment of the internal genitalia status. Although the uterus can be identified by ultrasonography, magnetic resonance imaging, or laparoscopy, it may be easily overlooked. Here, we report the case of a patient with mixed gonadal dysgenesis, in whom the presence of a uterus could not be confirmed before the initiation of estrogen replacement therapy despite the performance of various tests. The detection of the u terus was prompted by an atypical genital bleeding. This case implies that physicians may have difficulties identifying the uterus in female patients with DSD before the initiation of estrogen treatment. [ABSTRACT FROM AUTHOR]

Glucocorticoid (GC)-induced diabetes mellitus (DM) is theoretically unlikely to occur in patients with adrenal insufficiency if adequate physiological replacement doses of GC are given. Herein we report a patient with holoprosencephaly who developed GC-induced DM due to frequent and prolonged administration of high-dose GC for suspected adrenal crisis (AC). GC treatment should be started whenever AC cannot be ruled out. However, the initial and subsequent doses should be adjusted to the severity of AC and to the pace of clinical recovery with treatment, respectively. [ABSTRACT FROM AUTHOR]

Tofind a simple method to screen for iatrogenic childhood adrenal insufficiency, we retrospectively examined the results of CRH stimulation tests performed 212 times on 111 subjects (68 males; age at commencement of initial treatment ranged 0.0-19.8 yr; median age, 5.8 yr). Before the commencement of this study, 97 subjects had been treated with glucocorticoids and 14 subjects with West syndrome had been treated with synthetic adrenocorticotropic hormone. Duration of the primary treatment ranged from 15 to 2150 days. CRH stimulation tests were conducted between 09:00 AM and 10:00 AM and peak cortisol values less than 15 μg/dL were considered indicative of adrenal insufficiency. The receiver operating characteristic curve showed that the optimal basal serum cortisol cut-off values when screening for adrenal suppression ranged from 5.35 to 5.80 μg/dL depending on the primary disease. All subjects having a serum cortisol value of less than 2.3 μg/dL had insufficient adrenal function while all subjects having greater than 11 μg/dL had intact adrenal function. We concluded that single serum cortisol values obtained between 09:00 AM and 10:00 AM had the potential to serve as an index of adrenal function in children treated with glucocorticoids or synthetic adrenocorticotropic hormone. [ABSTRACT FROM AUTHOR]

Congenital nephrogenic diabetes insipidus (NDI) is a rare disease that causes polydipsia and polyuria, and there are currently no effective treatments for most cases, particularly severe ones. The present report describes the case of a 1-yr-5-mo-old male patient with partial congenital NDI who was successfully treated with oral disintegrating 1-deamino-8-D-arginine vasopressin (DDAVP). The patient presented with poor weight gain and polydipsia (fluid, 1.5 L/d) and received a diagnosis of NDI after genetic analysis revealed an AVPR2 mutation (c.383A>C, p.Y128S). His water-restricted urine osmolality increased from 360 mOsm/kg/H2O to 667 mOsm/kg/H2O after subcutaneous AVP injection, indicating that he had some urine concentrating ability. Oral disintegrating DDAVP therapy was started at 360 µg/d with hydrochlorothiazide and increased to 720 µg/d without any adverse effects. A 30% decrease in urine output and water intake was followed by an increase in body weight. The present study is the first to report the effectiveness and safety of oral disintegrating DDAVP in a patient with partial congenital NDI due to an AVPR2 gene mutation. The severity of NDI at which DDAVP therapy is the most effective remains to be determined. [ABSTRACT FROM AUTHOR]

The Thyroid Storm (TS) is the severest form of thyrotoxicosis and is associated with a high mortality rate. TS presents with fever, tachycardia, gastrointestinal symptoms, and central nervous system dysfunction and may be overlooked if patients do not present thyrotoxic symptoms or have precipitating factors. We reported a pediatric case of TS with mild proptosis but no obvious precipitating factors in a previously healthy child. A 9-year-old, female patient with a history of attention-deficit hyperactivity disorder presented with the complaint of frequent vomiting. She was alert but lethargic with fever and tachycardia. Physical examination was unremarkable except for coolness in the extremities and a delayed capillary refill time of two seconds. Fluid resuscitation was ineffective in alleviating the tachycardia. Additional history-taking revealed a one-month history of mild proptosis but no other thyrotoxic findings or precipitating factors were found. Markedly elevated thyroxine and triiodothyronine and suppressed thyroid-stimulating hormone on thyroid function tests led to a diagnosis of TS. Methimazole, potassium iodine, bisoprolol, and hydrocortisone were administered. Her vital signs and thyroid functions gradually improved, and she was discharged 18 days after admission without any serious complications. She is currently euthyroid and clinically stable on 5 mg of methimazole at three months after admission. When tachycardia that is resistant to usual resuscitation is found, careful history-taking and physical examination targeting thyroid disorders should be performed to assess for TS. [ABSTRACT FROM AUTHOR]

Aspiration pneumonia is a common complication of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome. However, the detailed clinical course of aspiration pneumonia in neonates and infants diagnosed with this disorder remains unclear. We report a case of a 2-yr-old girl diagnosed with MIRAGE syndrome during the early neonatal period. The patient developed 3 episodes of aspiration pneumonia until 4 mo of age, and this complication was attributed to esophageal hypoperistalsis secondary to achalasia and gastroesophageal reflux. Enteral feeding via a duodenal tube effectively prevented further episodes of aspiration pneumonia in this patient. [ABSTRACT FROM AUTHOR]

Hypertension is one of the most serious side effects of glucocorticoid therapy. We retrospectively investigated the frequency of hypertension during treatment of adrenal crisis and analyzed the factors associated with its development. Patients who were admitted for primary hypoadrenalism due to diagnosed or suspected adrenal crisis were included. In the analysis, the subjects were divided into two groups: the hypertensive group (group H) and non-hypertensive group (group Non-H). The primary endpoint was the difference in the hourly therapeutic hydrocortisone (HDC) dosage between the two groups. The hourly therapeutic HDC dose in the two groups was defined as the hourly HDC dose from the start of HDC infusion until the development of hypertension in group H or until the last blood pressure measurement in group Non-H. Nine of 19 crises led to hypertension. There was no significant difference in the therapeutic HDC dosage between the groups (p = 0.108). In conclusion, hypertension developed in some patients during treatment for adrenal crisis. There was no significant difference in the therapeutic HDC dosage between groups H and Non-H. [ABSTRACT FROM AUTHOR]

Bartter's syndrome is a heterogeneous disorder characterised by deficient renal reabsorption of sodium and chloride, and hypokalaemic metabolic alkalosis with hyper-reninaemia and hyperaldosteronaemia. Mutations in several ion transporters and channels have been associated with the pathogenesis of Bartter's syndrome. We describe two hypocalcaemic patients with deficient parathyroid hormone secretion who also showed characteristics of Bartter's syndrome. We found activating mutations of the gene for the calcium-sensing receptor (CASR) in both patients. Activation of this calcium-sensing receptor inhibits the activity of a renal outer-medullary potassium channel that is mutated in type 2 Bartter's syndrome. We therefore suggest that some activating mutations of CASR could provide new mechanisms for the development of Bartter's syndrome. [ABSTRACT FROM AUTHOR]