Characteristic external genitalia in male neonates with 5α-reductase deficiency.

There have been no reports comparing neonatal external genitalia of 5α-reductase deficiency (5αRD) with those of other 46,XY differences of sex differentiation (DSD). This study enrolled 31 Japanese cases of 46,XY DSD whose external genitalia was examined during the neonatal period; four were diagnosed as 5αRD and 15 were defined as non-5αRD by genetic analysis of SRD5A2 or urinary steroid metabolites. We compared the following characteristics between 5αRD and non-5αRD groups, adjusting the severity of undermasculinization of the external genitalia: stretched penile length (SPL), glans width, location of the external urethral opening, and proportion of undescended testis.

Comprehensive genomic profiling of salivary gland carcinoma: Analysis of the Center for Cancer Genomics and Advanced Therapeutics database in Japan.

Comprehensive information on genetic alterations in salivary gland cancer (SGC) is limited. This study aimed to elucidate the genetic and clinical characteristics of patients with SGC using the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) database, a Japanese national genomic database. We analyzed data of 776 patients with SGC registered in the C-CAT database between June 1, 2019, and June 30, 2023.

DHX37 Variant is One of Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome / Partial Gonadal Dysgenesis without Müllerian Derivatives.

Introduction: The testicular regression syndrome (TRS) is a form of differences of sex development (DSD) in which the testes differentiate and function during early embryonic development, but subsequently regress. The clinical phenotype of TRS often overlaps with that of partial gonadal dysgenesis (PGD). Previous studies have demonstrated a causal association between TRS/PGD and heterozygous missense variants of DHX37.

Fluorescent periodic acid Schiff-like staining combined with standard cytologic staining of the same cytologic specimen may facilitate cytopathologic diagnosis.

Background: Periodic acid Schiff (PAS) staining which detects glycogen and mucosubstances is frequently used as an ancillary method for an accurate cytopathologic diagnosis. Unfortunately, cytologic slides for PAS stain are not routinely prepared. Aqueous 7-amino-4-methylcoumarin (AMC) is colorless and transparent under bright field illumination but exhibits strong fluorescence under ultraviolet (UV) light and can be used as a Schiff reagent.

Laparoscopic pancreas-preserving duodenectomy: Minimally invasive surgery for superficial nonampullary duodenal epithelial tumors.

No consensus exists regarding the optimal treatment for superficial nonampullary duodenal epithelial tumors. Herein, we describe a laparoscopic pancreas-preserving duodenectomy for the treatment of a 30-mm adenoma located in the third portion of the duodenum. The adenoma was located on the pancreatic side, further hindering safe endoscopic resection.

Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees.

Objectives: The role of serum fibroblast growth factor 23 (FGF23) level in early neonatal period on the diagnosis of X-linked hypophosphatemic rickets (XLH) remains unclear.

Case Presentation: Two female patients from the first pedigree had an affected mother, and the other female from the second pedigree had an affected father. In all three cases, FGF23 levels were high in cord blood and peripheral blood at day 4-5.

Potential benefit of rapid genetic testing for Pallister-Hall syndrome.

Pallister-Hall syndrome (PHS) is defined as a group of characteristic manifestations caused by a monoallelic pathogenic variant. A two-month-old infant was referred to our institution because of undetermined sex. The infant had atypical genitalia with postaxial polysyndactyly, a hypothalamic mass, and an imperforate anus.

Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I.

A 43-year-old woman with genetically confirmed glycogen storage disease type Ib was suspected to have left breast cancer. Fluorodeoxyglucose-positron emission tomography showed high fluorodeoxyglucose accumulation in the whole liver as well as left mammary gland. We consider that high fluorodeoxyglucose accumulation in the liver of patients with glycogen storage disease type I is caused by impaired glucose-6-phosphate metabolism due to the congenital deficiency of glucose-6-phosphatase activities in hepatocytes.

Less-Invasive Diagnostic Approaches for Infants with Suspected Differences of Sex Development: A Case Report of a 297-g Neonate with Ambiguous Genitalia.

Less-invasive diagnostic approaches for low-birthweight preterm neonates with suspected differences of sex development have not been established. Herein, we describe our diagnostic approaches for a 297-g neonate with ambiguous genitalia. Using a fiberscope, the external genitalia were inspected in an incubator to minimize the risk of hypothermia and infection.

Continuous glucose monitoring in an infant with panhypopituitarism having hypoglycemia on growth hormone therapy.

Objectives: The usefulness of continuous glucose monitoring (CGM) in infants with panhypopituitarism (PH) having hypoglycemia is yet to be explored. The potential adverse effects of growth hormone (GH) replacement therapy, such as hyperglycemia, cannot be comprehensively evaluated using the conventional measurement.

Case Presentation: A 2-month-old infant with PH, including severe GH deficiency, had hypoglycemia despite frequent feeding.

7-Amino-4-methylcoumarin as a fluorescent substitute for Schiff's reagent: a new method that can be combined with hemalum and eosin staining on the same tissue section.

An aqueous 7-amino-4-methylcoumarin (AMC) solution exhibits strong fluorescence under ultraviolet (UV) light and can be used as a Schiff reagent to visualize aldehydes. We investigated hemalum and eosin (H & E) and AMC staining for histological and pathological analysis. Sections of normal and lesioned human tissues were stained with combined H & E/AMC staining.

High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency.

For salt-wasting 21-hydroxylase deficiency (21OHD), fludrocortisone (FC) is usually supplemented at 0.05-0.2 mg/d dose.

Thymic Mucoepidermoid Carcinoma: A Clinicopathologic and Molecular Study.

Thymic mucoepidermoid carcinoma (MEC) is a rare tumor, and its characteristics remain to be clarified. Here we investigated 20 cases of thymic MEC to systematically characterize its clinical, histopathologic, and molecular features. The median age of the patients was 56 years (range, 19 to 80 y), there was a slight male predilection (3:2), and 44% of the patients were asymptomatic at diagnosis.

Pleomorphic adenoma: detection of PLAG1 rearrangement-positive tumor components using whole-slide fluorescence in situ hybridization.

Pleomorphic adenoma (PA) consists of heterogeneous histological architecture mixed with epithelioid and mesenchymal forms. Various types of epithelial or myoepithelial malignancies arise from PA, but sarcomas are extremely rare. A human androgen receptor gene (HUMARA) clonality assay has suggested that PA is clonal in nature.