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This study described four adult male cases of Kennedy disease with typical neurological symptoms and noted gynecomastia as the most frequent endocrinological manifestation, accompanied by an abnormal expansion in the androgen receptor gene.

This case report highlights the potential benefits of unilateral adrenalectomy in treating primary bilateral macronodular adrenal hyperplasia, noting a high rate of remission and low risk of recurrence.

This case study reports an Asian female with congenital adrenal hyperplasia presenting atypically with polymenorrhagia, who showed improvement with oral dexamethasone, despite no change in hirsutism or clitoromegaly.

This study found that individuals with ectodermal dysplasias often have a reduced secretion rate of submandibular saliva and altered protein concentrations, suggesting routine salivary tests may be beneficial in this population.

This study found that among vitiligo patients in south-southern Nigeria, there were significant correlations between digit lengths and digit ratio, but further research is needed due to the small sample size.

The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.

This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.

In this study of women in Swabi, 26.04% were diagnosed with Polycystic Ovary Syndrome, with Hyperandrogenism and phenotype A being the most common presentations.

This case report describes an 87-year-old woman diagnosed with type 3 autoimmune polyendocrine syndrome, highlighting the importance of recognizing and managing coexisting autoimmune conditions.

Keratin gene clusters in humans and marsupials are similarly organized.

This article reports that mutations in the PADI3 gene, affecting its activity or localization, cause uncombable hair syndrome and are linked to central centrifugal cicatricial alopecia, particularly among women of African ancestry.

In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.

In this study, researchers created a mutant mouse lacking the first cut repeat in the Cux/CDP protein, resulting in curly vibrissae and wavy hair, supporting the role of Cux/CDP's DNA binding domains in gene regulation during development.

In this study, forced expression of the transcription factor cDermo-1 in chicken dermis led to the formation of ectopic feather buds and enhanced feather growth, demonstrating its role in initiating skin appendage development.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.

This case report describes a 62-year-old woman diagnosed with undifferentiated connective tissue disease and renal amyloidosis, presenting symptoms like joint pain, Raynaud's phenomenon, and carpal tunnel syndrome.

Diabetic patients often have ingrown nails due to obesity, high blood pressure, past injuries, bad nail trimming, nail fungus, weak foot pulse, and weak knee reflex.

This study observed that congenital hypotrichosis in crossbred cattle is linked to short, curly, dilute-color hair, potentially due to color dilution mutants in European breeds.

This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.

This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.

This study found a significant association between patients' sex of rearing and external genitalia in those with gonadal dysgenesis, while noting lower testosterone levels compared to controls.

This case report describes a unique instance of an otherwise healthy infant with phylloid terminal hair nevus, a form of hypomelanosis without extracutaneous abnormalities.

This article reviews the polycystic ovary syndrome as a polyendocrine disease, detailing its etiology, pathogenesis, and research methods, but presents no new clinical results.

Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.

This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.

In this study, the varied phenotype of trichothiodystrophy was highlighted, with findings of distinctive hair shaft abnormalities and a wide range of multisystem issues, including neurologic and urologic disorders.

This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.

This case report identifies a new type of hair matrix tumor called "rippled pattern trichomatricoma," distinguished by its unique cell arrangement and differentiation features.

This paper discusses the importance of early diagnosis and treatment of polycystic ovarian syndrome to potentially reduce long-term complications like diabetes, hypertension, and heart disease, but reports no new clinical outcomes.