Evaluation of Digit Ratios in Youth With Polycystic Ovary Syndrome.

INTRODUCTION: Polycystic ovary syndrome (PCOS) is a common syndrome often observed during adolescence, characterized by ovulatory dysfunction and hyperandrogenism. It is determined that, when female fetuses are exposed to high levels of androgens, it increases their likelihood of developing PCOS in later ages. The 2D:4D digit ratio, which measures the length of the index finger compared to the ring finger, is a precise anatomical indicator of the degree of prenatal androgen exposure. Higher digit ratios in individuals have been associated with outcomes typically attributed to females. In the adolescent age group, the relationship between PCOS and androgen exposure during the antenatal period is not clear. AIM: The study was aimed to evaluate digit ratios in adolescents with PCOS. METHODS: The study included 38 adolescent girls with PCOS, and 40 healthy adolescent girls were selected as the control group. The digit ratio (2D:4D) was evaluated by digital calipers, and the digit ratios of the patient and control groups were compared. RESULTS: The mean age in the PCOS group was 15.99±1.18 years, while the control group had a mean age of 16.02±1.06 years. The right-hand 2D:4D digit ratio was significantly lower in the PCOS group (0.93±0.02) compared to the control group (1.00±0.01, p<0.001). Similarly, the left-hand 2D:4D digit ratio was also lower in the PCOS group (0.98±0.03) compared to the control group (1.00±0.01, p<0.001). There was a moderate negative correlation between the left-hand 2D:4D ratio and the modified Ferriman-Gallwey score (mFGS) (r=0.53, p=0.01). Nevertheless, there was not a significant association found between the 2D:4D ratio of the right hand and mFGS. CONCLUSION: This study demonstrates that PCOS patients have significantly lower both-hand 2D:4D ratios than healthy controls, suggesting prenatal androgen exposure. Recognizing anatomic markers in adolescence may predict the development of PCOS. The findings align with previous research linking low digit ratios to androgen exposure and various reproductive outcomes.

Are Thyroid Functions Affected in Multisystem Inflammatory Syndrome in Children?

Objective: Multisystem inflammatory syndrome in children (MIS-C), associated with Coronavirus disease-2019, is defined as the presence of documented fever, inflammation, and at least two signs of multisystem involvement and lack of an alternative microbial diagnosis in children who have recent or current Severe acute respiratory syndrome-Coronavirus-2 infection or exposure. In this study, we evaluated thyroid function tests in pediatric cases with MIS-C in order to understand how the hypothalamus-pituitary-thyroid axis was affected and to examine the relationship between disease severity and thyroid function. Methods: This case-control study was conducted between January 2021 and September 2021. The patient group consisted of 36 MIS-C cases, the control group included 72 healthy children. Demographic features, clinical findings, inflammatory markers, thyroid function tests, and thyroid antibody levels in cases of MIS-C were recorded. Thyroid function tests were recorded in the healthy control group. Results: When MIS-C and healthy control groups were compared, free triiodothyronine (fT3) level was lower in MIS-C cases, while free thyroxine (fT4) level was found to be lower in the healthy group (p<0.001, p=0.001, respectively). Although the fT4 level was significantly lower in controls, no significant difference was found compared with the age-appropriate reference intervals (p=0.318). When MIS-C cases were stratified by intensive care requirement, fT3 levels were also lower in those admitted to intensive care and also in those who received steroid treatment (p=0.043, p<0.001, respectively). Conclusion: Since the endocrine system critically coordinates and regulates important metabolic and biochemical pathways, investigation of endocrine function in MIS-C may be beneficial. These results show an association between low fT3 levels and both diagnosis of MIS-C and requirement for intensive care. Further studies are needed to predict the prognosis and develop a long-term follow-up management plan.

Childhood-onset mild diabetes caused by a homozygous novel variant in the glucokinase gene.

PURPOSE: Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause MODY 2, which is characterized by asymptomatic fasting hyperglycemia and does not require insulin treatment. Conversely, homozygous loss-of-function mutations in the same gene give rise to permanent neonatal diabetes mellitus (DM) that appears in the first 6-9 months of life and necessitates lifelong insulin treatment. We aimed to present the genotypic and phenotypic features of a 13-year-old patient diagnosed with DM at the age of 3 years due to a homozygous variant in the GCK gene. METHODS: The patient's clinical and laboratory findings at follow-up were not consistent with the initial diagnosis of type 1 DM; thus, next-generation sequencing of MODY genes (GCK, HNF1A, HNF1B, and HNF4A genes) was performed to identify monogenic causes of DM. RESULTS: A novel homozygous variant c.1222 G > T in the GCK gene was revealed. In silico analysis identified it as a pathogenic variant. His mother, father, and brother had the same heterozygous variant in the GCK gene and were diagnosed with MODY 2 (mild fasting hyperglycemia and elevated HbA1c) after genetic counseling. CONCLUSION: In this case report, a patient with a homozygous variant in the GCK gene, who was diagnosed with DM after the infantile period, was presented, highlighting the fact that cases with homozygous variants in the GCK gene can, though rarely, present at a later age with a milder phenotype.

Early and late diagnoses of 17ß-Hydroxysteroid dehydrogenase type-3 deficiency in two unrelated patients.

17ß-hydroxysteroid dehydrogenase type 3 deficiency is a rare cause of 46 XY disorders of sexual development. Mutations in the HSD17B3 gene result in reduced activity of the 17ß-HSD3 enzyme, decreasing the conversion of androstenedione to testosterone. In this report, two cases, admitted with different clinical findings in the neonatal and adolescent periods and were decided to be raised in different genders are presented. The first case who had complete female external genitalia presented on the third postnatal day with the complaint of swelling in the groin. He was decided to be raised as a male and was treated successfully with parenteral testosterone in order to increase phallus size before surgical correction of the external genitalia. The second case was an adolescent girl who presented due to pubertal virilisation and primary amenorrhoea and chose female gender. Molecular genetic analyses of the HSD17B3 gene revealed two different previously reported homozygous variants. We emphasise that patients with 17ß-hydroxysteroid dehydrogenase type 3 deficiency can present with heterogeneous clinical findings in different age groups. Early diagnosis is important to prevent future gender confusion and related problems.