Incidence of menstrual cycle abnormalities and polycystic ovary syndrome in female Japanese patients with type 1 diabetes mellitus. The role of androgens

2024-1-1

An unusual cause of bleeding in primary hypothyroidism

2024-1-1

<i>ABCC8</i> haploinsufficiency in a mother-daughter pair with young-onset diabetes with and without neonatal hypoglycemia

2024-1-1

Fatality owing to pulmonary hemorrhage following pamidronate disodium administration in a neonate with osteogenesis imperfecta type 2: a case report

2024-1-1

Concurrent <i>THRB</i> and <i>DUOX2</i> variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone

2024-1-1

Potential indication of chemotherapy for hypodipsia and arginine vasopressin deficiency secondary to hypothalamic-pituitary Langerhans cell histiocytosis: a case report and literature review

2024-1-1

GH therapy in children with juvenile idiopathic arthritis: a four-decade review

2024-1-1

A novel <i>SOX2</i> frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism

2024-1-1

Platelet and white blood cell counts correlate with leptin and body mass index in Japanese adolescents

2024-1-1

A thyroid adenoma in a pubertal male with thyroxine-binding globulin deficiency

2024-1-1

CHARGE syndrome in a child with a<i> CHD7</i> variant and a novel pathogenic <i>SOX2 </i>variant<i>: </i>a case report

2024-1-1

A case of diffuse congenital hyperinsulinism in which continuous glucose monitoring contributed to the choice of a treatment strategy following a subtotal pancreatectomy

2024-1-1

Adrenal crisis during a trip in a young child with septo-optic dysplasia

2024-1-1

Mortality rate and standardized mortality ratio of childhood-onset type 1 diabetes according to incidentally detected non-acute-onset or acute-onset subtype, sex, and onset age: a cohort study

2024-1-1

Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome

2024-1-1

Adipsic hypernatremia with marked hyperprolactinemia and GH deficiency in a 9-year-old boy

2024-1-1

Predictive value of transabdominal pelvic ultrasonography for the diagnosis of central precocious puberty: a single-center observational retrospective study

2024-1-1

Pitfalls in estradiol measurement by electrochemiluminescence immunoassay: A case study of a prepubertal girl with a falsely elevated serum estradiol level

2024-1-1

A novel variant of <i>IGSF1</i> in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups

2024-1-1

Switching to burosumab from conventional therapy in siblings with relatively well-controlled X-linked hypophosphatemia

2024-1-1

A case of long-term survival of SADDAN treated with growth hormone for marked short stature

2024-1-1

Clinical characteristics in children with maturity-onset diabetes of the young detected by urine glucose screening at schools in the Tokyo Metropolitan Area

2024-1-1

Delayed menarche in children and adolescents with type 1 diabetes mellitus: a systematic review and meta-analysis

2024-1-1

Severe growth retardation during carbohydrate restriction in type 1 diabetes mellitus: a case report

2024-1-1

Severely obese 14-year-old boy with central sleep apnea several years after head trauma

2024-1-1

<i>PTPN11</i> and <i>FLNA</i> variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features

2024-1-1

Peak expiratory flow, core performance and physical activity in normal-weight, overweight, and obese adolescents

2024-1-1

Initial clinical manifestations in a young male with <i>RFX6</i>-variant-associated diabetes

2024-1-1

A Japanese school urine screening program led to the diagnosis of <i>KCNJ11</i>-MODY: A case report

2024-1-1

A novel <i>GNAS</i>-Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism

2024-1-1

Pseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review

2024-1-1

Siblings with neonatal hyperbilirubinemia and the presence of <i>UGT1A1 </i>double missense variants

2024-1-1

Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion

2024-1-1

Diabetes mellitus with severe insulin resistance in a young male patient with a heterozygous pathogenic <i>IRS1</i> frameshift variant

2024-1-1

Traumatic brain injury inducing swift transition from syndrome of inappropriate antidiuretic hormone secretion to central diabetes insipidus: a case report

2024-1-1

Clinical management of diazoxide-unresponsive congenital hyperinsulinism: a single-center experience

2024-1-1

Idiopathic infantile hypercalcemia with a <i>CYP24A1 </i>variant triggered by vitamin D supplementation in fortified milk: a case report

2024-1-1

Efficacy and safety of GH treatment in Japanese children with short stature due to <i>SHOX</i> deficiency: a randomized phase 3 study

2024-1-1

A novel missense variant of <i>FGD1</i> disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog–Scott syndrome

2024-1-1

Trends in endogenous insulin secretion capacity and anti-islet autoantibody titers in two childhood-onset slowly progressive insulin-dependent diabetes mellitus cases

2024-1-1

Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of <i>VHL</i>

2024-1-1

Use of a long-term continuous glucose monitor for predicting sulfonylurea dose in patients with neonatal diabetes mellitus: a case series

2024-1-1

Hearing loss with two pathogenic <i>SLC26A4</i> variants and positive thyroid autoantibody: a case report

2024-1-1

A Japanese school urine screening program led to the diagnosis of <i>KCNJ11</i>-MODY: A case report

2023-10-3

An infant with a heterozygous variant of <i>ABCG5</i> presented with hypercholesterolemia only during breastfeeding

2023-1-1

A family with brachydactyly mental retardation syndrome with a missense variant in <i>HDAC4</i>

2023-1-1

A novel missense variant of <i>FGFR1</i> in a Japanese girl with Kallmann syndrome and holoprosencephaly

2023-1-1

Analysis of the distribution of adult height standard deviation scores in relation to prepubertal height standard deviation scores using longitudinal growth data

2023-1-1

Safe administration of sotrovimab to a COVID-19 patient with acute phase type 1 diabetes mellitus

2023-1-1

Novel and recurrent <i>COMP</i> gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods

2023-1-1