An adolescent girl with coexisting ovarian mature cystic teratoma and HAIR-AN syndrome, an extreme subtype of polycystic ovarian syndrome

Summary Polycystic ovarian syndrome (PCOS) is associated with menstrual irregularities, ovulatory dysfunction, hirsutism, insulin resistance, obesity and metabolic syndrome but is rarely associated with severe hyperandrogenaemia and virilisation resulting in male pattern baldness and clitoromegaly. Total serum testosterone greater than twice the upper limit of the reference range or free androgen index of over five-fold elevated suggests a diagnosis other than PCOS. We reported a case of a 15 years old obese girl presented with secondary amenorrhoea, virilising signs: frontal baldness, clitoromegaly and prominent signs of insulin resistance and marked acanthosis nigricans. Her total testosterone level was markedly elevated at 9.4 nmol/L (0.5–1.7 nmol/L) and MRI pelvis revealed a right ovarian mass with fat and cystic component and a left polycystic ovary. The patient underwent laparoscopic right ovarian cystectomy and histologically confirmed mature cystic teratoma. Post-operatively, her testosterone level declined but did not normalise, menses resumed but remained irregular. Her fasting insulin was elevated 85.2 mIU/L (3–25 mIU/L) and HOMA-IR was high at 13.1 (>2) with persistent acanthosis nigricans suggesting co-existing HAIR-AN syndrome, an extreme phenotype of polycystic ovarian syndrome. Learning points Rapid onset of hyperandrogenic symptoms, especially if associated with signs of virilisation must raise the suspicion of an androgen-secreting tumour. Total serum testosterone greater than twofold the upper limit of the reference range or free androgen indices over fivefold suggest a diagnosis other than polycystic ovarian syndrome (PCOS). High levels of testosterone with normal levels of the DHEA-S suggest an ovarian source. Ovarian androgen-secreting tumour and HAIR-AN syndrome, an extreme spectrum of PCOS can co-exist.

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Role of insulin sensitising agents in altering PSA level in PCOS

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20175013 ◽

2017 ◽

Vol 6 (11) ◽

pp. 4986 ◽

Cited By ~ 2

Author(s):

Rajashree Panigrahy ◽

Bratati Singh ◽

Tapan K. Pattnaik ◽

Sanjukta Misra

Keyword(s):

Insulin Resistance ◽

Polycystic Ovarian Syndrome ◽

Specific Antigen ◽

Serum Testosterone ◽

Healthy Controls ◽

Androgen Excess ◽

Control Serum ◽

Ovarian Syndrome ◽

Significant Concentration

Background: Ovarian androgen production can be promoted by insulin resistance which leads to reproductive abnormalities in Polycystic Ovarian Syndrome (PCOS). A wide variety of female tissues can synthesize and secrete Prostate Specific Antigen (PSA). Androgens may take part a significant role in PSA secretion in PCOS. As insulin resistance stimulates androgen production, the baseline value of PSA may decline by insulin sensitising agents in PCOS. Present study is an attempt to measure the function of PSA as a marker of androgen excess in PCOS and to assess the role of insulin sensitising agent metformin in altering PSA level in PCOS.Methods: The study was undertaken to assess the insulin resistance, testosterone and PSA level in 45 women diagnosed as PCOS and 45 healthy controls. Alteration of insulin resistance, serum testosterone and PSA levels by metformin was also analysed.Results: A significant increase in testosterone, PSA level and insulin resistance was observed in PCOS cases when compared with control (p<0.001). When metformin was given for 4 months, improvement in insulin resistance and testosterone level was found in cases, but PSA values observed no change. Correlation was not found linking insulin resistance with PSA level prior to and after therapy.Conclusions: Serum PSA level could be detected in high significant concentration in PCOS women. Various researches explain that insulin resistance and BMI may perhaps control serum PSA level, but our result demonstrate no effect of insulin sensitising agent on serum PSA value.

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Study of cutaneous manifestations of polycystic ovarian syndrome

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20201235 ◽

2020 ◽

Vol 9 (4) ◽

pp. 1627

Author(s):

Sukhleen Kaur ◽

Sunil K. Gupta ◽

Sunil K. Juneja ◽

Sukhjot Kaur ◽

Monika Rani

Keyword(s):

Insulin Resistance ◽

Acanthosis Nigricans ◽

Polycystic Ovarian Syndrome ◽

Free Testosterone ◽

Reproductive Age ◽

Common Finding ◽

Serum Prolactin ◽

Endocrine Disorders ◽

Cutaneous Manifestations ◽

Ovarian Syndrome

Background: Polycystic ovarian syndrome (PCOS) is one of the most frequently encountered endocrine disorders that occurs in as many as 4 to 10% of women of reproductive age group. It presents with a series of skin changes including acne, hirsutism, seborrhea, androgenetic alopecia (AGA) and acanthosis nigricans. Aim of the study was to determine the prevalence and frequency of different cutaneous manifestations in PCOS patients and to correlate them with the degree of hormonal abnormalities.Methods: A total 100 patients with features of PCOS who presented to department of dermatology, gynecology (January 2018-December 2019) with cutaneous manifestations were recorded and diagnosis of PCOS was made using Rotterdam’s criteria. Pregnant women and diagnosed cases of any other endocrine disorder were excluded. Hirsutism was assessed using Ferriman-Gallwey score and AGA according to Ludwig’s classification. Serum hormonal profile including FSH, LH, prolactin, testosterone (free), DHEAS, TSH, FBS, fasting insulin were done. Insulin resistance was determined by calculating HOMA-IR score.Results: Among cutaneous manifestations of PCOS, hirsutism (85%) was the most common finding followed by acne (73%), seborrhea (50%), AGA (36%), acanthosis nigricans (29%) and acrochordons (9%). The most common hormonal abnormality was insulin resistance in 53% patients, followed by raised free testosterone in 19% and serum prolactin in 18% patients. A statistically significant association was present between AGA and insulin resistance, hirsutism and raised prolactin levels, seborrhea and raised body mass index (p < 0.05).Conclusions: Dermatological manifestations of PCOS play a significant role in making the diagnosis and constitute a substantial portion of the symptoms experienced by women with this syndrome.

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

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.1534 ◽

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.

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