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The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.

In this study, nearly half of the female patients with androgenetic alopecia reported symptoms of hormonal disorders, but hormone test results did not show significant abnormalities.

This review examines current evidence on personalized management strategies for PCOS, but does not present new clinical results; the authors advocate for treatments tailored to predominant symptoms and individual health profiles.

This pharmacovigilance study identified 19 drugs with high potential risk for causing male infertility, including hormonal agents, antineoplastic drugs, and antidepressants, emphasizing the need for fertility counseling and possible sperm cryopreservation in reproductive-age males before using such treatments.

During LIFEHOUSE, researchers documented distinct patterns of physical exam findings and biomarker abnormalities in 369 adult employees, which may aid clinicians in recognizing wellness challenges and preventing chronic diseases associated with aging.

PCOS management includes lifestyle changes and medications to improve fertility.

This article reviews the characteristics and risks associated with polycystic ovary syndrome, such as insulin resistance and obesity, highlighting a need for further understanding of its pathogenesis; it reports no new findings.

Diffuse alopecia in women may be related to androgens and iron deficiency, and basic hormone and nutrient screening is useful.

This case study reports successful treatment of a 19-year-old with Satoyoshi syndrome using a combination of carbamazepine, methotrexate, prednisolone, and sex-steroids, improving muscle spasms, alopecia, and quality of life.

The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.

This review explores the role of Panx3 in skeletal formation and discusses its potential in developing new therapies for conditions like osteoarthritis, without presenting new clinical findings.

This case report describes a rare instance of pediatric idiopathic hypoparathyroidism in an 11-year-old Saudi boy, characterized by extensive cranial calcifications beyond the basal ganglia, with no other neurological abnormalities.

This case report describes a 1.5-month-old baby with Schimmelpenning-Feuerstein-Mims syndrome, manifested by skin and ocular abnormalities along with developmental delays and hearing loss observed later, highlighting the syndrome's progression and need for multidisciplinary management.

This case report presents a 14-year-old girl with type A insulin resistance, illustrating diagnostic processes to differentiate it from type 2 diabetes in the context of pediatric obesity and hyperglycemia.

This study reports that NIH PCOS is linked to more severe metabolic issues, including higher obesity and insulin resistance, compared to non-NIH PCOS phenotypes.

This review explores the hypothesis that polycystic ovary syndrome may originate in fetal life due to genetic predispositions and environmental influences, but it reports no new clinical findings.

This article discusses the rationale, design, major findings, and updated objectives and methods of the ongoing Rotterdam Study on various diseases, without reporting new research results.

This study found that overexpression of Smad7 in transgenic mice led to severe alterations in multiple epithelial tissues, resulting in early death after birth.

This review discusses recent research on male infertility causes and treatments, emphasizing the need for further understanding of idiopathic sperm abnormalities and molecular factors to improve patient outcomes; it reports no new clinical results.

This study found that parents of women with PCOS have a higher prevalence of insulin resistance and Type II diabetes than parents of healthy women.

This review discusses the diagnostic criteria and treatment options for polycystic ovary syndrome focusing on metabolic subtypes and reports no clinical results.

This review discusses the age-related diagnostic challenges and comorbidities of polycystic ovarian syndrome and provides no new clinical findings; the authors emphasize the role of obesity in insulin resistance among affected women.

Seborrhea in Parkinson's disease may be linked to hormones, not autonomic impairment.

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.

Testosterone therapy aims to treat hormone deficiencies and various conditions safely and effectively, but requires careful patient monitoring due to potential side effects.

This article reviews the evidence regarding the role of sex hormones in occult hyperadrenocorticism and reports no new findings, highlighting the unproven nature of their involvement.

This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.

In this study, the authors observed that testosterone therapy shortened the QTc interval and normalized T-wave morphology in men with acquired LQTS or TdP linked to hypogonadism, suggesting testosterone may be helpful in treatment.

This study found that finasteride significantly improved motor, EEG, and cellular changes in a rat model of thioacetamide-induced hepatic encephalopathy and prevented the development of hepatic coma.