HAIR-AN Syndrome

Last update 23 Jan 2025

Basic Info

Synonyms

HAIR-AN syndrome, HAIRANｼｮｳｺｳｸﾞﾝ, Hyperandrogenic, insulin-resistant acanthosis nigricans syndrome

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Introduction

A condition characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans, typically associated with obesity in teenage girls. It is considered to be a subtype of polycystic ovarian syndrome, but may occur in male individuals. Etiology is unclear, but some cases may be associated with mutations affecting the tyrosine kinase domain of the insulin receptor.

Clinical Trials associated with HAIR-AN Syndrome

DRKS00034252

/ RecruitingNot ApplicableIIT

I*DEAL (How I deal with body dissatisfaction) – A Randomized Controlled Pilot Trial investigating virtually delivered Body Project (vBP) Groups in the Context of Body Dissatisfaction among young German Females

Start Date13 May 2024

Sponsor / Collaborator-

ACTRN12613000809730

/ Not yet recruitingNot ApplicableIIT

In medically-complex children aged 4-36 months in the acute inpatient setting, does group speech-language therapy compared to individual speech-language therapy improve language development outcomes - a controlled trial.

Start Date29 Jul 2013

Sponsor / Collaborator-

100 Clinical Results associated with HAIR-AN Syndrome

100 Translational Medicine associated with HAIR-AN Syndrome

0 Patents (Medical) associated with HAIR-AN Syndrome

Literatures (Medical) associated with HAIR-AN Syndrome

01 Jan 2024·Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica

[Mechanism of mitochondrial dysfunction in polycystic ovary syndrome and traditional Chinese medicine intervention: a review].

Review

Author: Lu, Ling-Jing ; Zhang, Yue-Hui ; Jiang, Yue ; Zhang, Jiao ; Han, Yan-Hua

Polycystic ovary syndrome(PCOS) is a highly prevalent endocrine and reproductive disorder characterized by ovulatory dysfunction, hyperandrogenism(HA), and polycystic ovarian morphology(PCOM). It is often accompanied by insulin resistance(IR), obesity, and metabolic disorders and can lead to cardiovascular diseases, endometrial carcinoma and many other late complications, seriously affecting the physical and mental health and quality of life in premenopausal women. The etiology of PCOS is still unknown and many scholars assume that mitochondrial dysfunction may represent a major pathogenic factor in PCOS in recent years. With a holistic view, treatment based on syndrome differentiation, and multi-system and multi-target treatment manner, traditional Chinese medicine(TCM) can mitigate the symptoms and signs of PCOS from multiple aspects. Although there have been reviews on the mechanism of mitochondrial dysfunction in PCOS, there is still a lack of reviews on the intervention of mitochondrial function by TCM to treat PCOS. Therefore, this paper focuses on the role of mitochondrial dysfunction in PCOS and summarizes the studies about the TCM intervention of PCOS by regulating the mitochondrial function, inflammation, oxidative stress(OS), autophagy, and apoptosis in the last five years, aiming to shed new light on the prevention and treatment of PCOS with TCM.

01 Jun 2023·Molecular Genetics and Metabolism Reports

A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer

Author: Cuenca, Dalia ; Zentella-Dehesa, Alejandro ; Ventura-Gallegos, Jose Luis ; Tusie-Luna, Maria Teresa ; Segura-Kato, Yayoi ; Ordonez-Sanchez, Ma. Luisa ; Reza-Albarran, Alfredo ; Gomez-Perez, Francisco Javier ; Almeda-Valdes, Paloma ; Ventura-Ayala, Laura ; Gonzalez, Lizbet Ruilova ; Conte, Michelle De Puy

Severe insulin resistance can be caused by rare genetic defects in the insulin receptor known as insulin receptoropathies. These genetic defects cause a wide spectrum of clinical manifestations ranging from mild syndromes to lethal disorders. Among those is the HAIR-AN an extreme subtype of polycystic ovary syndrome (PCOS). We present a case of a 29-year-old woman with amenorrhea, severe insulin resistance, hirsutism, and acanthosis nigricans who also developed endometrial cancer. She was found to carry a novel heterozygous nonsense mutation insulin receptor gene (INSR). The mutation was inherited from the mother. Levels of insulin receptor and AKT were measured using Western-Blot from peripheral blood mononuclear cells and were both decreased. Thus, we conclude that the identified mutation in the insulin receptor gene and lead to decreased activity of the downstream signaling of the insulin pathway.

29 Nov 2022·JCEM Case Reports

Resolution of Hyperandrogenism, Insulin Resistance and Acanthosis Nigricans (HAIR-AN) Syndrome After Sleeve Gastrectomy

Article

Author: Astapova, Olga ; Lewin, Zoe ; O’Malley, William ; Vitek, Wendy S

AbstractHyperandrogenism, insulin resistance, and acanthosis nigricans (HAIR-AN) is a severe subphenotype of polycystic ovary syndrome (PCOS). A 32-year-old woman with HAIR-AN and class 3 obesity presented to an endocrinology clinic after she failed sequential trials of treatment with metformin, estrogen–progestin OCP, spironolactone, leuprolide, and a levonorgestrel intrauterine device. She complained of hirsutism and acanthosis nigricans severely affecting her quality of life and had secondary amenorrhea. Laboratory evaluation showed extremely elevated testosterone and insulin levels and elevated glycated hemoglobin A1c (HbA1c). She underwent laparoscopic sleeve gastrectomy. One year after the surgery, she lost 32% of her body weight and reported normalization of menses, dramatic improvement in hirsutism, and near-resolution of acanthosis nigricans. Her testosterone, insulin, and HbA1c normalized. This case demonstrates the central role of hyperinsulinemia in HAIR-AN and suggests that aggressive measures to normalize insulin resistance and reduce excess weight can effectively treat the reproductive abnormalities in this syndrome. We suggest that bariatric surgery can be an effective cure for HAIR-AN syndrome and that PCOS, including HAIR-AN, should be considered a comorbidity of obesity during evaluation of bariatric surgery candidates.

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HAIR-AN Syndrome

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