Acanthosis Nigricans and Severe Insulin Resistance in an Adolescent Girl with Thyroid Cancer

1992 ◽  
Vol 15 (3) ◽  
pp. 273-276 ◽  
Author(s):  
Aman U. Buzdar ◽  
Irwin H. Krakoff ◽  
Melissa G. Burkett ◽  
Rena Vassilopoulou-Sellin ◽  
Ayten Cangir ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Thyroid Cancer ◽  
Adolescent Girl ◽  
Acanthosis Nigricans ◽  
Severe Insulin Resistance

scholarly journals SUN-004 Case Study: A 17-year-old Girl with HAIR-AN Syndrome, T2DM and Primary Amenorrhea

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Abdulghani Habib Alsaeed ◽  
Hayat Al Harthi
Keyword(s):  
Insulin Resistance ◽  
Adolescent Girl ◽  
Acanthosis Nigricans ◽  
Polycystic Ovarian Syndrome ◽  
Ethinyl Estradiol ◽  
Free Testosterone ◽  
Primary Amenorrhea ◽  
Total Testosterone ◽  
Thyroid Function Tests ◽  
Ovarian Syndrome

Abstract Introduction: HAIR-AN syndrome is a sub-type of polycystic ovarian syndrome which consists of virilization, insulin resistance and acanthosis nigricans. It may be associated with menstrual irregularity, and hyperandrogenic features such as hirsutism and masculinization. Aim: We report an adolescent girl with HAIR-AN syndrome, T2DM, a very high testosterone level (male range) and primary amenorrhea Case report: A 17-year-old female who had been investigated by pediatric endocrinology since the age of 13 because of hyperpigmentation which was proven to be acanthosis nigricans on skin biopsy. The patient was found to have insulin resistance with initially normal glucose level. She has hirsutism and hypertrichosis. There is no similar condition in her family, she has three siblings all are well. She developed T2DM with at the age of 14. She was started on Metformin 2 gram daily and them pioglitazone 30 mg was added when she was 16 years. She never had menarche. The clinical examination revealed an adolescent girl with normal BP 106/68 mmHg, and BMI 19.6kg/m2. She scored 24 onFerriman-Gallwey hirsutism scoring system. She had severe acanthosis nigricans on both axillae. She also had back and upper limbs hyperpigmentation.Lab tests revealed normal thyroid function tests, prolactin, cortisol, DHEA-S, and 17 hydroxy progesterone. Fasting glucose 7.2, insulin 123 μU/ml (2.6-24.9), c-peptide 964, HbA1c 8.2%. Total testosterone 24.61 nmol/L (0.069-2.715), SHBG 184.9 nmol/L, and Free testosterone index 13.31 (0.51-6.53). Her LH 8.9 and FSH 4.7.Radiological investigations revealed polycystic ovaries on pelvic ultrasound. MRI abdomen showed normal adrenals, and mildly enlarged ovaries with peripherally located follicles consistent with polycystic ovarian syndrome. The patient was started in Diane-35 (cyproterone acetate and ethinyl estradiol) oral pills. She started to have menarche three months after using Diane-35. Her Total testosterone had dropped from 24.61 to 1.69 nmol/L (0.069-2.715), SHBG 579 nmol/L, and Free testosterone index 0.29 (0.51-6.53). She reported that the hirsutism is getting less than before starting the treatment.Conclusion: Primary amenorrhea might be a manifestation of in HAIR-AN syndrome due to sever hyperandrogenism. The management of such condition is challenging. In addition to controlling the metabolic parameters, combined oral pills with antiandrogen effect might be effective.

scholarly journals Androgen Excess Disorders in Women: The Severe Insulin-Resistant Hyperandrogenic Syndrome, HAIR-AN

2006 ◽  
Vol 6 ◽  
pp. 116-121 ◽  
Author(s):  
Kristin M. Rager ◽  
Hatim A. Omar
Keyword(s):  
Insulin Resistance ◽  
Environmental Factors ◽  
Acanthosis Nigricans ◽  
Polycystic Ovary ◽  
Androgen Excess ◽  
Ovary Syndrome ◽  
Severe Insulin Resistance ◽  
Insulin Resistant ◽  
Genetic And Environmental Factors ◽  
Support Treatment

HAIR-AN syndrome (hyperandrogenism, insulin resistance, acanthosis nigricans) is a subset of the polycystic ovary syndrome, where the patients demonstrate severe insulin resistance. It is theorized that both genetic and environmental factors, such as obesity, give rise to the development of HAIR-AN. Diagnosis is primarily clinical, with laboratory values lending further support. Treatment is aimed at decreasing insulin resistance, regulating ovulation, and decreasing acne, acanthosis nigricans, and hirsutism.

scholarly journals A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Jing Jin ◽  
Xinxin Liang ◽  
Jie Wei ◽  
Lingling Xu
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Acanthosis Nigricans ◽  
Polycystic Ovary ◽  
Receptor Gene ◽  
Insulin Resistance Syndrome ◽  
Type A ◽  
Insulin Receptor Gene ◽  
Severe Insulin Resistance ◽  
Type A Insulin Resistance

Background. Mutations in insulin receptor genes can cause severe insulin resistance syndrome. Compared with Rabson-Mendenhall Syndrome and Donohue’s Syndrome, type A insulin resistance syndrome is generally not serious. The main manifestations in woman with type A insulin resistance syndrome are hyperinsulinemia, insulin resistance, acanthosis nigricans, hyperandrogenism, and polycystic ovary. Case Presentation. A 13-year-old girl (Han nationality) visited the hospital due to hairiness and acanthosis nigricans. Further examination revealed severe hyperinsulinemia, insulin resistance, elevated blood glucose, hyperandrogenism, and polycystic ovary. Analysis of the insulin receptor gene by sequencing showed the presence of a nucleotide change in intron 7 (c. 1610+1G > A). The mutation was a splicing mutation, which can obviously affect the mRNA splicing of the insulin receptor and cause its function loss. The patient was finally diagnosed with type A insulin resistance syndrome. After 2 months of metformin treatment, the patient had spontaneous menstrual cramps and significantly improved acanthosis nigricans and sex hormones. Conclusion. We report for the first time a new splicing mutation on the insulin receptor gene at the 7th intron (c.1610+1G > A), which leads to type A insulin resistance syndrome. In clinically suspected patients with polycystic ovary syndrome, if there are extremely high blood levels of insulin in the blood, genetic testing should be performed to detect insulin receptor gene mutation of type A insulin resistance syndrome.

Altered GLUT1 and GLUT3 gene expression and subcellular redistribution of GLUT4: Protein in muscle from patients with acanthosis nigricans and severe insulin resistance

Metabolism ◽  
2001 ◽  
Vol 50 (7) ◽  
pp. 771-777 ◽  
Author(s):  
Charles A. Stuart ◽  
Gary Wen ◽  
Mary E. Williamson ◽  
Jie Jiang ◽  
Charles R. Gilkison ◽  
...  
Keyword(s):  
Gene Expression ◽  
Insulin Resistance ◽  
Acanthosis Nigricans ◽  
Severe Insulin Resistance

Autophosphorylation of Cultured Skin Fibroblast Insulin Receptors From Patients With Severe Insulin Resistance and Acanthosis Nigricans

Diabetes ◽  
1989 ◽  
Vol 38 (3) ◽  
pp. 328-332 ◽  
Author(s):  
C. A. Stuart ◽  
R. A. Pietrzyk ◽  
E. J. Peters ◽  
F. E. Smith ◽  
M. J. Prince
Keyword(s):  
Insulin Resistance ◽  
Skin Fibroblast ◽  
Acanthosis Nigricans ◽  
Insulin Receptors ◽  
Severe Insulin Resistance ◽  
Cultured Skin

scholarly journals Liraglutide administration improves hormonal/metabolic profile and reproductive features in women with HAIR-AN syndrome

2020 ◽  
Vol 2020 ◽  
Author(s):  
S Livadas ◽  
I Androulakis ◽  
N Angelopoulos ◽  
A Lytras ◽  
F Papagiannopoulos ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Polycystic Ovary Syndrome ◽  
Metabolic Profile ◽  
Acanthosis Nigricans ◽  
Polycystic Ovary ◽  
Extreme Case ◽  
List Type ◽  
Obese Women ◽  
Ovary Syndrome ◽  
Severe Insulin Resistance

Summary HAIR-AN syndrome, the coexistence of Hirsutism, Insulin Resistance (IR) and Acanthosis Nigricans, constitutes a rare nosologic entity. It is characterized from clinical and biochemical hyperandrogenism accompanied with severe insulin resistance, chronic anovulation and metabolic abnormalities. Literally, HAIR-AN represents an extreme case of polycystic ovary syndrome (PCOS). In everyday practice, the management of HAIR-AN constitutes a therapeutic challenge with the available pharmaceutical agents. Specifically, the degree of IR cannot be significantly ameliorated with metformin administration, whereas oral contraceptives chronic administration is associated with worsening of metabolic profile. Liraglutide and exenatide, in combination with metformin, have been introduced in the management of significantly obese women with PCOS with satisfactory results. Based on this notion, we prescribed liraglutide in five women with HAIR-AN. In all participants a significant improvement regarding the degree of IR, fat depositions, androgen levels and the pattern of menstrual cycle was observed, with minimal weight loss. Furthermore, one woman became pregnant during liraglutide treatment giving birth to a healthy child. Accordingly, we conclude that liraglutide constitutes an effective alternative in the management of women with HAIR-AN. Learning points: HAIR-AN management is challenging and classic therapeutic regimens are ineffective. Literally HAIR-AN syndrome, the coexistence of Hirsutism, Insulin Resistance and Acanthosis Nigricans, represents an extreme case of polycystic ovary syndrome. In cases of HAIR-AN, liraglutide constitutes an effective and safe choice.

scholarly journals Type B insulin resistance syndrome associated with connective tissue disease and psoriasis

2020 ◽  
Vol 2020 ◽  
Author(s):  
Agnieszka Łebkowska ◽  
Anna Krentowska ◽  
Agnieszka Adamska ◽  
Danuta Lipińska ◽  
Beata Piasecka ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Connective Tissue ◽  
Insulin Receptor ◽  
Connective Tissue Disease ◽  
Acanthosis Nigricans ◽  
Insulin Resistance Syndrome ◽  
List Type ◽  
Type B ◽  
Immunoprecipitation Assay ◽  
Severe Insulin Resistance

Summary Type B insulin resistance syndrome (TBIR) is characterised by the rapid onset of severe insulin resistance due to circulating anti-insulin receptor antibodies (AIRAs). Widespread acanthosis nigricans is normally seen, and co-occurrence with other autoimmune diseases is common. We report a 27-year-old Caucasian man with psoriasis and connective tissue disease who presented with unexplained rapid weight loss, severe acanthosis nigricans, and hyperglycaemia punctuated by fasting hypoglycaemia. Severe insulin resistance was confirmed by hyperinsulinaemic euglycaemic clamping, and immunoprecipitation assay demonstrated AIRAs, confirming TBIR. Treatment with corticosteroids, metformin and hydroxychloroquine allowed withdrawal of insulin therapy, with stabilisation of glycaemia and diminished signs of insulin resistance; however, morning fasting hypoglycaemic episodes persisted. Over three years of follow-up, metabolic control remained satisfactory on a regimen of metformin, hydroxychloroquine and methotrexate; however, psoriatic arthritis developed. This case illustrates TBIR as a rare but severe form of acquired insulin resistance and describes an effective multidisciplinary approach to treatment. Learning points: We describe an unusual case of type B insulin resistance syndrome (TBIR) in association with mixed connective tissue disease and psoriasis. Clinical evidence of severe insulin resistance was corroborated by euglycaemic hyperinsulinaemic clamp, and anti-insulin receptor autoantibodies were confirmed by immunoprecipitation assay. Treatment with metformin, hydroxychloroquine and methotrexate ameliorated extreme insulin resistance.

Sign in / Sign up

Export Citation Format

Share Document