haploinsufficiency in a mother-daughter pair with young-onset diabetes with and without neonatal hypoglycemia.

The ATP-binding cassette transporter subfamily C member 8 (ABCC8) regulates insulin secretion from β-cells. Loss- and gain-of-function variants of have been implicated in neonatal hyperinsulinemic hypoglycemia and young-onset diabetes, respectively. Although some patients with variants have been reported to exhibit both neonatal hypoglycemia and young-onset diabetes, the molecular and clinical characteristics of this atypical phenotype remain unknown.

Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literature.

Over 70 intragenic copy-number variations (CNVs) of PHEX have been identified in patients with X-linked hypophosphatemia (XLH). However, the underlying mechanism of these CNVs has been poorly investigated. Furthermore, although PHEX undergoes X chromosome inactivation (XCI), the association between XLH in women with heterozygous PHEX variants and skewed XCI remains unknown.

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

Objective: Temple syndrome (TS14) is a rare 14q32.2-related imprinting disorder. Here, we report comprehensive clinical findings in TS14.

CHARGE syndrome in a child with a variant and a novel pathogenic variant: A case report.

CHARGE syndrome is a clinically heterogeneous condition that typically presents with a loss-of-function mutation in . SOX2 anophthalmia syndrome is a rare condition associated with hypogonadism and hearing loss. Herein, we describe the case of a Japanese boy presenting with a micropenis, bilateral cryptorchidism, cupped ear, right facial nerve palsy, and bilateral hearing loss, clinically meeting the diagnostic criteria for CHARGE syndrome, but with optic nerve hypoplasia, which is atypical for the syndrome.

Initial clinical manifestations in a young male with -variant-associated diabetes.

To date, heterozygous loss-of-function variants of have been identified in 13 families with diabetes. Here, we present initial clinical information regarding a young male with diabetes who carried a heterozygous nonsense variant of (p.Arg377Ter) previously reported in his family with diabetes.

Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients.

Context: Defects in MKRN3, DLK1, KISS1, and KISS1R and some disorders, such as Temple syndrome (TS14), cause central precocious puberty (CPP). Recently, pathogenic variants (PVs) in MECP2 have been reported to be associated with CPP.

Objective: We aimed to clarify the contribution of (epi)genetic abnormalities to CPP and clinical and hormonal features in each etiology.

Compound heterozygous variants in a man with isolated nonobstructive azoospermia.

Case: A 40-year-old Japanese man with nonobstructive azoospermia (NOA) was found to carry rare variants in a newly identified causative gene for spermatogenic failure. This patient was identified through mutation screening of in 97 men with etiology-unknown isolated NOA.

Outcome: The patient had two heterozygous variants in that affect consensus sequences of splice-donor sites [c.

Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature.

Biallelic IGFALS variants lead to acid‒labile subunit (ALS) deficiency characterized by growth hormone resistance with or without delayed puberty. Here, we report a prepubertal boy with a homozygous 2-amino acid deletion within the fourth N-glycosylation motif (c.1103_1108del, p.

Macular Hole Surgery as a Historical Perspective.

Purpose: To evaluate the outcomes of macular hole (MH) surgery as a historical perspective after its inception in 1991.

Patients And Methods: Retrospective review of 1032 eyes of 949 patients with an idiopathic MH who were followed for at least one year after the initial surgery. All surgeries were performed from 1990 to 2016 by one surgeon (NO) and included phacovitrectomy for patients of ≥40-years-of-age, a removal of the posterior hyaloid and epiretinal membrane, and SF6 gas tamponade with a 1-week face-down.

and variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features.

Noonan syndrome is a congenital disorder characterized by distinctive facial appearance, congenital heart defects, short stature, and skeletal dysplasia. Although boys with Noonan syndrome frequently exhibit cryptorchidism, a mild form of 46,XY disorders of sex development (DSD), they barely manifest more severe genital abnormalities. Here, we report a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features.

SHOX and sex difference in height: a hypothesis.

The mean height is taller in males than in females, except for early teens. In this regard, previous studies have revealed that (1) distribution of the mean adult heights in subjects with disorders accompanied by discordance between sex chromosome complement and bioactive sex steroids and in control subjects (the British height standards) indicates that, of the ~12.5 cm of sex difference in the mean adult height, ~9 cm is accounted for by the difference in the sex chromosome complement and the remaining ~3.

Machine learning trial to detect sex differences in simple sticker arts of 1606 preschool children.

Background: Previous studies suggested that drawings made by preschool boys and girls show distinguishable differences. However, children's drawings on their own are too complexly determined and inherently ambiguous to be a reliable indicator. In the present study, we attempted to develop a machine learning algorithm for classification of sex of the subjects using children's artworks.

Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple Variants.

is one of the major causative genes of congenital hypothyroidism (CH). Still, the mutation spectrum and clinical outcomes of biallelic variants are not fully understood. This study aimed to elucidate the molecular features and long-term clinical manifestations of CH caused by multiple pathogenic variants.

Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.

Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with multiple nodules, is usually seen in adults and is recognized as a separate disorder from congenital hypothyroidism. Here we performed a linkage analysis of a family with both nongoitrous congenital hypothyroidism and MNG and identified a signal at 15q26.

Efficacy and safety of GH treatment in Japanese children with short stature due to deficiency: a randomized phase 3 study.

We conducted a randomized phase 3 study to investigate the efficacy and safety of GH treatment in prepubertal Japanese patients with short stature due to deficiency. The patients were randomly allocated to the GH-GH group (n = 10), in which the patients were treated with GH (0.35 mg/kg/wk) subcutaneously once daily for 24 mo, or the no-treatment (NT)-GH group (n = 9), in which the patients were untreated for the first 12 mo and then administered the same dosage of GH for the next 12 mo.

A novel variant of in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups.

Following the partial revision of the enforcement regulations of the School Health and Safety Act, school health checkups incorporated growth evaluation of schoolchildren in April 2016 using growth charts. We report cases of congenital central hypothyroidism (C-CH) in siblings with a novel nonsense variant in the immunoglobulin superfamily member 1 gene (); their diagnoses were prompted by school health checkups. School checkups revealed that the older brother was overweight and had a reduced growth rate at the age of 11 yr, whereas the younger brother was overweight and had short stature at the age of 8 yr.