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This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.

This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.

This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.

This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.

This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.

This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.

Spironolactone can cause side effects like high potassium levels and breast enlargement, and patients need careful monitoring.

This study identified 21 novel circular RNAs in cashmere goats, with nine significantly more expressed during the anagen phase of hair follicle growth, suggesting roles in hair regeneration and cashmere yield enhancement.

In this study, researchers found that the matriptase-HGF-c-MET pathway may be activated in proliferative cells of human hair follicles and sebaceous glands, suggesting a potential role in hair growth regulation.

This study investigated genetic and phenotypic characteristics of androgen insensitivity syndrome in individuals with a 46,XY karyotype, documenting a range from complete to partial insensitivity.

In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.

This report describes a case of Ambras syndrome with a chromosomal inversion on chromosome 8, similar to a previous case, but not associated with altered androgen levels.

This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.

In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.

This report describes a case of HAIR-AN syndrome in a young woman, characterized by acanthosis nigricans, insulin resistance, and polycystic ovaries, highlighting its rarity and multisystem nature.

This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.

This case report indicates that HAIR-AN syndrome can lead to severe hyperandrogenism with virilisation signs in women after excluding tumoral causes and identifying signs of insulin resistance.

This case report highlights a 16-year-old girl with primary amenorrhea diagnosed with complete androgen insensitivity syndrome after chromosomal analysis revealed a 46,XY karyotype.

This case report describes a misdiagnosed case of HAIR-AN syndrome with an unfortunate outcome, highlighting the challenges in distinguishing it from other hyperandrogenic conditions.

This case report identifies a novel AR gene mutation in an adolescent with primary amenorrhea, suggesting that CAIS should be considered when evaluating patients with a female phenotype and breast development.

This review discusses SAHA syndrome in women, characterized by seborrhea, acne, hirsutism, and/or androgenetic alopecia, and notes its similarity to polycystic ovary syndrome without reporting new clinical results.

This article reviews the characteristics and classification of SAHA syndrome and its relationship with other conditions, without presenting new clinical findings.

This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.

This systematic review reports that HAIR-AN syndrome, characterized by severe insulin resistance, hyperandrogenism, and distinctive skin issues, significantly impacts obese women and can improve with treatments like metformin, emphasizing the importance of targeted management to reduce metabolic complications.

In this case study, a diagnosis of HAIR-AN syndrome, a rare form of polycystic ovarian syndrome, was made in a 17-year-old female with hyperandrogenism, insulin resistance, and acanthosis nigricans, but genetic screening revealed no significant mutations linked to her symptoms.

This article reviews acromegaloid facial appearance syndrome and presents a case in a 57-year-old woman, emphasizing the need for more cases to understand its clinical features and inheritance patterns.