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Archives of Disease in Childhood.... Mar 2024Hirsutism, unwanted terminal hair growth in androgen-dependent areas, is a common presentation to general paediatricians, dermatologists and endocrinologists. Polycystic...
Hirsutism, unwanted terminal hair growth in androgen-dependent areas, is a common presentation to general paediatricians, dermatologists and endocrinologists. Polycystic ovarian syndrome is the most common cause but can be challenging to diagnose in young people due to the significant overlap of features with the healthy adolescent population. There are other rare, but important, causes to consider such as non-classic congenital adrenal hyperplasia and androgen-secreting tumours. Hirsutism carries a significant psychological burden for those living with it. This 15 min consultation piece describes the causes of hirsutism, introduces a novel assessment tool and suggests an approach to investigations and management, including signposting to psychological support.
Topics: Female; Adolescent; Humans; Hirsutism; Androgens; Polycystic Ovary Syndrome; Neoplasms; Referral and Consultation
PubMed: 36657811
DOI: 10.1136/archdischild-2022-324465 -
The Indian Journal of Medical Research Sep 2022Polycystic Ovary Syndrome (PCOS) is becoming an area of global and national health concern. It requires a life cycle approach from adolescence to menopause. To...
BACKGROUND & OBJECTIVES
Polycystic Ovary Syndrome (PCOS) is becoming an area of global and national health concern. It requires a life cycle approach from adolescence to menopause. To comprehensively address the wide spectrum of this disorder, a multidisciplinary model of care was established for women with PCOS in a government setting in India with an objective to screen and manage multifaceted manifestations of PCOS and to diagnose and treat associated comorbidities such as metabolic syndrome, dermatologic manifestations and psychological issues.
METHODS
A model of integrated multidisciplinary PCOS clinic was implemented for services and research at ICMR-National Institute for Research in Reproductive and Child Health (NIRRCH), Mumbai Maharashtra, India. This is a one-stop holistic centre for managing menstrual, cosmetic, infertility, obesity, metabolic and psychological concerns of women affected with PCOS. Two hundred and twenty six women diagnosed with PCOS using the Rotterdam criteria were screened for metabolic comorbidities with anthropometry, ultrasonography, hormonal and biochemical tests and for psychological problems. Analysis was performed using SPSS version 19.0.
RESULTS
Mean body mass index (BMI) was 26.1 kg/m, higher for Asians. Hirsutism was observed in 53.6 per cent of women. Metabolic syndrome was seen among 35.3 per cent and non-alcoholic fatty liver in 18.3 per cent. Psychological issues such as anxiety and depression were identified in majority of the women 31.4 per cent of women could achieve pregnancy at the end of one year of multidisciplinary management.
INTERPRETATION & CONCLUSIONS
The results of the present study suggest that an integrated multidisciplinary approach led to the early identification and treatment of comorbidities of PCOS, especially metabolic syndrome. There is hence an urgent need to implement multidisciplinary PCOS clinics in government health facilities.
Topics: Pregnancy; Adolescent; Child; Female; Humans; Polycystic Ovary Syndrome; Metabolic Syndrome; Reproductive Health; India; Hirsutism
PubMed: 36588359
DOI: 10.4103/ijmr.IJMR_2497_19 -
Journal of Medical Case Reports Dec 2022Ovarian steroid cell tumors, not otherwise specified is a rare sex cord-stromal tumor. Almost 60% of all steroid cell tumors are categorized as not otherwise specified...
BACKGROUND
Ovarian steroid cell tumors, not otherwise specified is a rare sex cord-stromal tumor. Almost 60% of all steroid cell tumors are categorized as not otherwise specified and represent less than 0.1% of all ovarian neoplasm. Some of them are endocrinologically active, producing virilization signs in young women. The recommended treatment is primarily surgical.
CASE PRESENTATION
We present the case of a 20-year-old Mexican woman with secondary amenorrhea and virilization signs. She was treated with combined oral contraceptives from 13 years old, due to a misdiagnosis of polycystic ovarian syndrome. However, 4 months after stopping medication, amenorrhea and virilization signs worsened. Biochemically, she had high serum total testosterone and free testosterone levels, and a pelvic and transvaginal ultrasound followed by a pelvic tomography scan demonstrated a right adnexal tumor. She underwent right salpingo-oophorectomy and the histopathological and immunochemistry exams confirmed the diagnosis. The patient was followed for a year after surgery and until then, her menses were regular and she had no recurrence of virilization signs.
CONCLUSION
The purpose of this case report is to alert physicians to rule out ovarian steroid cell tumor, not otherwise specified diagnosis in young women with increased testosterone after discarding common causes such as polycystic ovarian syndrome. A multidisciplinary team including a gynecologist, endocrinologist, radiologist, and pathologist should be involved for correct diagnosis at the proper time.
Topics: Female; Humans; Adolescent; Young Adult; Adult; Amenorrhea; Polycystic Ovary Syndrome; Testosterone; Ovarian Neoplasms; Sex Cord-Gonadal Stromal Tumors; Virilism
PubMed: 36564842
DOI: 10.1186/s13256-022-03697-w -
International Journal of Molecular... Dec 2022Androgens such as testosterone and dihydrotestosterone (DHT) are essential for male sexual development, masculinisation, and fertility. Testosterone is produced via the... (Review)
Review
Androgens such as testosterone and dihydrotestosterone (DHT) are essential for male sexual development, masculinisation, and fertility. Testosterone is produced via the canonical androgen production pathway and is essential for normal masculinisation and testis function. Disruption to androgen production can result in disorders of sexual development (DSD). In the canonical pathway, 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) is viewed as a critical enzyme in the production of testosterone, performing the final conversion required. HSD17B3 deficiency in humans is associated with DSD due to low testosterone concentration during development. Individuals with mutations have poorly masculinised external genitalia that can appear as ambiguous or female, whilst having internal Wolffian structures and testes. Recent studies in mice deficient in HSD17B3 have made the surprising finding that testosterone production is maintained, male mice are masculinised and remain fertile, suggesting differences between mice and human testosterone production exist. We discuss the phenotypic differences observed and the possible other pathways and enzymes that could be contributing to testosterone production and male development. The identification of alternative testosterone synthesising enzymes could inform the development of novel therapies to endogenously regulate testosterone production in individuals with testosterone deficiency.
Topics: Humans; Male; Female; Mice; Animals; Testosterone; Androgens; Virilism; Mutation; Dihydrotestosterone; 17-Hydroxysteroid Dehydrogenases
PubMed: 36555196
DOI: 10.3390/ijms232415555 -
Genes Nov 2022Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme deficiencies required for cortisol biosynthesis in the adrenal cortex....
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme deficiencies required for cortisol biosynthesis in the adrenal cortex. The majority of CAH are due to the deficiency of the 21-hydroxylase enzyme, while 3β-hydroxysteroid dehydrogenase type 2 deficiency accounts for less than five percent of all CAH cases. We report two Moroccan twins from a spontaneous triplet pregnancy. The 46,XY newborn exhibited a disorder of sexual differentiation (DSD) with hypo virilization, while the 46,XX newborn had normal female external genitalia. In the first week of life, they showed hyponatremia and primary adrenal insufficiency with a slight 17OHP elevation and increased DHEAS and renin levels. The aCGH-SNP analysis disclosed a 8.36 Mb long contiguous stretch of homozygosity (LCSH) on chromosome 1p13.2-p11.2 including the candidate gene, a LCSH of 7.3 Mb on 14q31.1-q32.11, and a 7 Mb duplication on 10q22.3-q23.2. Clinical exome sequencing revealed the biallelic c.969T > G (p.Asn323Lys) likely pathogenic, variant in both of the affected twins. This case emphasizes the importance of a prompt molecular diagnosis performed through the combination of aCGH and clinical exome, both for establishment of correct therapy and for follow-up, as the newborns also carry a genomic rearrangement with possible clinical implications.
Topics: Female; Humans; Infant, Newborn; Adrenal Hyperplasia, Congenital; Progesterone Reductase; Virilism; Twins
PubMed: 36553457
DOI: 10.3390/genes13122190 -
Medicine Dec 2022There are 2 mainstays of sacrococcygeal pilonidal disease (SPD) treatment: non-operative and surgical. None of them was superior, and it was associated with some degree...
There are 2 mainstays of sacrococcygeal pilonidal disease (SPD) treatment: non-operative and surgical. None of them was superior, and it was associated with some degree of recurrence. Crystallized phenol treatment is a non-operative procedure performed in outpatient settings. This retrospective study aimed to asses crystallized phenol treatment in patients with primary and recurrent SPD and the factors that influence disease recurrence. A total of 92 patients were included and followed up. Crystallized phenol was administered in an outpatient setting under local anesthesia. All demographic, patient, sinus features, procedure and outcome data were recorded and analyzed for treatment success and factors for recurrence were identified. Between January 2019 and December 2021, 92 patients (77 male and 15 female) with a mean age of 28.4 were treated with 1, 2, or 3 doses of crystallized phenol. Recurrence rate after the procedure was 20.7%. Univariate regression analysis showed that the grade of hirsutism, initial presence of abscess, pit number and number of showers per week had statistically significant effect on recurrence. Multivariate logistic regression analysis pointed on the hirsutism grade (P = .008) and the number of pit openings (P = .003) as a statistically significant factors for recurrence. Crystallized phenol application for primary and recurrent SPD is safe, inexpensive and efficient non-operative method with few minor complications, even when is repeated. Factors responsible for the recurrence of the procedure are grade of hirsutism and sinus pit number.
Topics: Humans; Male; Female; Adult; Phenol; Retrospective Studies; Pilonidal Sinus; Hirsutism; Neoplasm Recurrence, Local; Phenols; Treatment Outcome; Recurrence; Sacrococcygeal Region
PubMed: 36550830
DOI: 10.1097/MD.0000000000031934 -
Frontiers in Endocrinology 2022PCOS-related literature is mostly dominated by the medical perspective. However, the condition's lifelong, far reaching, and multifaceted impacts highlight the...
INTRODUCTION
PCOS-related literature is mostly dominated by the medical perspective. However, the condition's lifelong, far reaching, and multifaceted impacts highlight the importance to gain the perspectives from those with PCOS. Therefore, we performed a systematic review to explore the current literatures and gaps around the experiences and perceptions of those living with PCOS.
METHOD
A comprehensive search of seven electronic databases was conducted between July and October 2021. A total 34 from 1615 screened articles were included in this systematic review and subsequently coded using NVivo 12 software. The quality of individual studies was assessed by adaptation to the Critical Appraisal Skills Program (CASP) quality assessment tool.
RESULTS
Five domains were generated from the data: Signs/Symptoms, Diagnosis, Management, Perceptions, Resources and Improving Outcomes. Dissatisfaction surrounding the experience of diagnosis was common. Concerns surrounded perceived lack of knowledge from healthcare professionals and delays in diagnosis. Individual studies on adults and adolescents shared similar feelings. The consensus was found to be that current management was vague and generalised. Symptoms such as hirsutism, obesity, irregular menstruation challenge personal and societal expectations of femininity. Online PCOS resources are popular amongst those with PCOS but most of them lack evidence. A call for more culturally specific resources was found to be common ground amongst those with PCOS.
CONCLUSION
Overall dissatisfaction amongst adults and adolescents regarding their diagnostic journey of PCOS. Tailored and culturally specific PCOS advice and management is necessary and can be achieved through co-creation of resources between healthcare professionals and those with PCOS.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/, identifier CRD42021272371.
Topics: Adult; Adolescent; Female; Humans; Polycystic Ovary Syndrome; Hirsutism; Menstruation Disturbances; Behavior Therapy
PubMed: 36531482
DOI: 10.3389/fendo.2022.1064937 -
Frontiers in Endocrinology 2022To raise awareness of Cytochrome P450 Oxidoreductase Deficiency (PORD, a rare form of congenital adrenal hyperplasia (CAH), through a case of pregnant woman with...
OBJECTIVE
To raise awareness of Cytochrome P450 Oxidoreductase Deficiency (PORD, a rare form of congenital adrenal hyperplasia (CAH), through a case of pregnant woman with virilization symptoms.
CASE DESCRIPTION
A 30-year-old Chinese woman was referred to hospital after 7 years of presenting signs of virilization, including voice deepening, acromegaly, hirsutism, clitoromegaly, and acne. These symptoms appeared since her third gestation. Her second birth died 9 hours after birth and had signs of clitoris hypertrophy. Her third born was a son who presented with flat nose, radius and humerus bone malformation, and small penis at birth. Panel of POR-related genetic tests revealed that the patient carried c.1370 G>A (p.R457H), which is a POR heterozygous gene, while her husband carried a POR heterozygous gene as well, c.1379 C>A (p.S460Y). Two heterozygous mutations of the POR were found in her son: c.1370 G>A and c.1379 C>A. In PORD, c.1370 G>A (p.R457H) was reported as a susceptible gene, while c.1379 C>A (p.S460Y) has not been reported as responsible for the disease so far.
DISCUSSION AND LITERATURE REVIEW
PORD is a rare form of CAH and caused by POR gene mutations. Most PORD patients are identified and diagnosed in pediatrics department. Internal medicine and obstetrics physicians are unfamiliar with the disease. As clinical manifestations are diverse, PORD could be easy to miss or to be misdiagnosed. Typical clinical manifestation includes adrenal insufficiency-related symptoms, such as bone malformations and sexual development disorders. PORD is diagnosed through genetic testing. Investigations of steroid metabolic products in urine through gas chromatography-mass spectrometry or liquid chromatography-mass spectrometry are also helpful for the diagnosis, but neither of them are widely available in China. In this case, the patient had a history of infertility, and her third child was born with congenital defect and carried a PORD-related gene. In general clinical practice, if a pregnant woman presents with abnormal virilization symptoms, CAH possibilities should be considered, including rare causes such as PORD.
CONCLUSION
PORD is a rare autosomal recessive genetic disease. We summarised the clinical characteristics and genotypes that were previously reported in the Chinese population and identified a novel mutation.
Topics: Humans; Male; Child; Pregnancy; Infant, Newborn; Female; Adult; Adrenal Hyperplasia, Congenital; Antley-Bixler Syndrome Phenotype; Virilism; Disorders of Sex Development; Oxidoreductases
PubMed: 36518257
DOI: 10.3389/fendo.2022.1020880 -
CMAJ : Canadian Medical Association... Dec 2022
Topics: Female; Humans; Postmenopause; Virilism; Ovarian Diseases; Testosterone; Ovarian Neoplasms
PubMed: 36511870
DOI: 10.1503/cmaj.220685 -
International Journal of Molecular... Nov 2022Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age. Despite its incidence, the syndrome is poorly understood and remains... (Review)
Review
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age. Despite its incidence, the syndrome is poorly understood and remains underdiagnosed, and female patients are diagnosed with a delay. The heterogenous nature of this complex disorder results from the combined occurrence of genetic, environmental, endocrine, and behavioral factors. Primary clinical manifestations of PCOS are derived from the excess of androgens (anovulation, polycystic ovary morphology, lack of or scanty, irregular menstrual periods, acne and hirsutism), whereas the secondary manifestations include multiple metabolic, cardiovascular, and psychological disorders. Dietary and lifestyle factors play important roles in the development and course of PCOS, which suggests strong epigenetic and environmental influences. Many studies have shown a strong association between PCOS and chronic, low-grade inflammation both in the ovarian tissue and throughout the body. In the vast majority of PCOS patients, elevated values of inflammatory markers or their gene markers have been reported. Development of the vicious cycle of the chronic inflammatory state in PCOS is additionally stimulated by hyperinsulinemia and obesity. Changes in DNA methylation, histone acetylation and noncoding RNA levels are presented in this review in the context of oxidative stress, reactive oxygen species, and inflammatory signaling in PCOS. Epigenetic modulation of androgenic activity in response to inflammatory signaling is also discussed.
Topics: Female; Humans; Polycystic Ovary Syndrome; Hirsutism; Anovulation; Androgens; Hyperinsulinism
PubMed: 36498989
DOI: 10.3390/ijms232314663