Type 1 diabetes mellitus (T1DM) adversely affects gonadal function. This study aimed to define the characteristics and factors associated with menstrual cycle abnormalities and polycystic ovary syndrome (PCOS) in Japanese patients with T1DM. Our study enrolled 157 patients, including 55 with oligomenorrhea (prolonged menstrual cycle) and 102 without oligomenorrhea. LH/FSH ratio (p = 0.04) and total testosterone levels (p = 0.03) were significantly higher in the oligomenorrhea group than in the non-oligomenorrhea group. No significant differences were found between the two groups regarding age at menarche, age at T1DM diagnosis, treatment, glycated hemoglobin, or total daily insulin dose. Of the 55 patients in the oligomenorrhea group, 27 were diagnosed with PCOS based on the Rotterdam criteria. We concluded that female patients with T1DM, as well as abnormal menstrual cycles and hyperandrogenism, may suffer from undiagnosed PCOS and should be referred to a gynecologist for full assessment, diagnosis, and treatment.
The study participants were divided into two groups based on their menstrual cycle patterns; patients with a regular cycle of ≤ 38 days were included in the “non-oligomenorrhea group” and others in the “oligomenorrhea group.” The results showed higher levels of serum total testosterone in both groups than in the general population, and the upper limit of normal for testosterone was set at 0.44 ng/mL. In the same patients, the total testosterone levels were significantly higher in the oligomenorrhea group than in the non-oligomenorrhea group (p = 0.033).
Complete deficiency of thyroxin-binding globulin (TBG-CD) is not commonly associated with clinical symptoms, and little is known about thyroid tumors associated with TBG-CD. We present a case report of an asymptomatic follicular adenoma that spontaneously shrank in a patient with TBG-CD. A previously healthy 13-yr-old male presented with a diffusely swollen thyroid gland. Thyroid function tests revealed low total thyroxin and TBG concentrations, indicating a TBG deficiency. Ultrasonography revealed a mildly swollen thyroid gland with a nodule (14 × 12 × 19 mm) in the left lobe. Genetic analysis of peripheral blood revealed a previously reported SERPINA7 variant, which resulted in complete loss of TBG function. The nodule was identified as a follicular adenoma using fine-needle aspiration. Subsequently, the adenoma shrank without treatment. This pubertal case suggests that careful observation with ultrasonography is warranted for follicular adenoma in patients with TBG deficiency and that treatment may not be required.
(Upper)
Thyroid ultrasonography revealed a nodule measuring 14 × 12 × 19 mm with clear
borders in the left lobe of the thyroid gland accompanied by cystic
degeneration and calcification without increased blood flow or surrounding lymphadenopathy.
(Lower)
The nodule shrank to 5 × 5 × 6 mm without any treatment six months after
fine-needle aspiration cytology (FNAC).
Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia caused by pathogenic variants of cartilage oligomeric matrix protein (COMP). Clinical symptoms of PSACH are characterized by growth disturbances after the first year of life. These disturbances lead to severe short stature with short limbs, brachydactyly, scoliosis, joint laxity, joint pain since childhood, and a normal face. Epimetaphyseal dysplasia, shortened long bones, and short metacarpals and phalanges are common findings on radiological examination. Additionally, anterior tonguing of the vertebral bodies in the lateral view is an important finding in childhood because it is specific to PSACH and normalizes with age. Here, we report five Japanese patients with PSACH, with one recurrent (p.Cys351Tyr) and four novel heterozygous pathogenic COMP variants (p.Asp437Tyr, p.Asp446Gly, p.Asp507Tyr, and p.Asp518Val). These five pathogenic variants were located in the calcium-binding type 3 (T3) repeats. In four of the novel variants, the affected amino acid was aspartic acid, which is abundant in each of the eight T3 repeats. We describe the radiological findings of these five patients. We also retrospectively analyzed the sequential changes in the vertebral body and epimetaphysis of the long bones from the neonatal to infantile periods in a patient with PSACH and congenital heart disease.
Standard Growth Charts for Height and Weight of Japanese Children from Birth to 17 Years Based on a Cross-sectional Survey of National Data
Released on J-STAGE: November 18, 2010 | Volume 2 Issue 2 Pages 87-97
Seizo Suwa, Katsuhiko Tachibana
Views: 175
The Tanner-Whitehouse II Skeletal Maturity Method: Rationale and Applicability
Released on J-STAGE: November 18, 2010 | Volume 2 Issue Supple1 Pages 9-18
Nöel Cameron
Views: 150
Late-Night Snacking Decreases Nocturnal Secretion of Growth Hormone
Released on J-STAGE: November 18, 2010 | Volume 5 Issue 2 Pages 79-82
Hiroko Kodama, Kazuoki Kubota, Mamoru Hata, Yutaka Nakazato, Toshiaki Abe
Views: 144
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)
Released on J-STAGE: July 13, 2022 | Volume 31 Issue 3 Pages 116-143
Tomohiro Ishii, Kenichi Kashimada, Naoko Amano, Kei Takasawa, Akari Nakamura-Utsunomiya, Shuichi Yatsuga, Tokuo Mukai, Shinobu Ida, Mitsuhisa Isobe, Masaru Fukushi, Hiroyuki Satoh, Kaoru Yoshino, Michio Otsuki, Takuyuki Katabami, Toshihiro Tajima
Views: 96
Asfotase alfa has a limited effect in improving the bowed limbs in perinatal benign hypophosphatasia: A case report
Released on J-STAGE: January 05, 2021 | Volume 30 Issue 1 Pages 53-56
Masaki Matsushita, Kenichi Mishima, Tadashi Nagata, Yasunari Kamiya, Shiro Imagama, Hiroshi Kitoh
Views: 75