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Anales de Pediatria May 2024
Topics: Humans; Adrenal Gland Neoplasms; Virilism; Female; Diagnosis, Differential; Adrenal Hyperplasia, Congenital
PubMed: 38580598
DOI: 10.1016/j.anpede.2024.03.019 -
Journal of Neuroendocrinology Mar 2024Pulsatile gonadotropin-releasing hormone (GnRH) release is critical for reproduction. Disruptions to GnRH secretion patterns may contribute to polycystic ovary syndrome...
Pulsatile gonadotropin-releasing hormone (GnRH) release is critical for reproduction. Disruptions to GnRH secretion patterns may contribute to polycystic ovary syndrome (PCOS). Prenatally androgenized (PNA) female mice recapitulate many neuroendocrine abnormalities observed in PCOS patients. PNA and development induce changes in spontaneous GnRH neuron firing rate, response to synaptic input, and the afterhyperpolarization potential of the action potential. We hypothesized potassium currents are altered by PNA treatment and/or development. Whole-cell patch-clamp recordings were made of transient and residual potassium currents of GnRH neurons in brain slices from 3-week-old and adult control and PNA females. At 3 weeks of age, PNA treatment increased transient current density versus controls. Development and PNA altered voltage-dependent activation and inactivation of the transient current. In controls, transient current activation and inactivation were depolarized at 3 weeks of age versus in adulthood. In GnRH neurons from 3-week-old mice, transient current activation and inactivation were more depolarized in control than PNA mice. Development and PNA treatment interacted to shift the time-dependence of inactivation and recovery from inactivation. Notably, in cells from adult PNA females, recovery was prolonged compared to all other groups. Activation of the residual current occurred at more depolarized membrane potentials in 3-week-old than adult controls. PNA depolarized activation of the residual current in adults. These findings demonstrate the properties of GnRH neuron potassium currents change during typical development, potentially contributing to puberty, and further suggest PNA treatment may both alter some typical developmental changes and induce additional modifications, which together may underlie aspects of the PNA phenotype. There was not any clinical trial involved in this work.
Topics: Animals; Female; Humans; Mice; Pregnancy; Androgens; Gonadotropin-Releasing Hormone; Mice, Transgenic; Neurons; Polycystic Ovary Syndrome; Prenatal Exposure Delayed Effects; Virilism
PubMed: 38403894
DOI: 10.1111/jne.13373 -
JPMA. the Journal of the Pakistan... Apr 2024To examine the fear of negative evaluation as a predictor, and to explore the association of social anxiety with psychological correlates among women with polycystic...
OBJECTIVE
To examine the fear of negative evaluation as a predictor, and to explore the association of social anxiety with psychological correlates among women with polycystic ovaries.
METHODS
The cross-sectional study was conducted from August 2020 to November 2021 after approval form the University of Central Punjab, Lahore, Pakistan, and comprised unmarried women aged 18-26 diagnosed with polycystic ovary syndrome. The sample was raised from different clinics and hospitals based in Lahore and Gujranwala cities. The sample was divided into obese, hirsutism and acne vulgaris groups. Data was collected using a demographic proforma along with standardised Derriford Appearance Scale, Brief Fear of Negative Evaluation Scale, University of California, Los Angeles, Loneliness Scale and the Social Interaction Anxiety Scale. Data was analysed using SPSS 24.
RESULTS
Of the 180 patients, 60(33.3%) were in each of the 3 groups. The overall mean age was 21.4+/-2.27 years. A significant association of fear of negative evaluation was found with appearance distress, social anxiety and loneliness (p<0.05). The fear of negative evaluation and appearance distress also significantly predicted loneliness in the subjects (p<0.01). The obese group scored significantly higher in terms of fear of negative evaluation and social anxiety compared to the other groups (p<0.05).
CONCLUSION
Women with polycystic ovaries were found to be suffering from adverse psychological outcomes and social anxiety.
Topics: Humans; Female; Polycystic Ovary Syndrome; Pakistan; Cross-Sectional Studies; Young Adult; Adult; Adolescent; Anxiety; Psychological Distress; Obesity; Hirsutism; Acne Vulgaris; Loneliness; Fear; Phobia, Social
PubMed: 38751262
DOI: 10.47391/JPMA.9471 -
Rhode Island Medical Journal (2013) Mar 2024The Spanish artist, Jusepe de Ribera, painted a portrait of a virilized woman in 1631. He provided a brief clinical history on stone tablets, which indicates that the...
The Spanish artist, Jusepe de Ribera, painted a portrait of a virilized woman in 1631. He provided a brief clinical history on stone tablets, which indicates that the woman most likely harbored a benign, androgen-secreting ovarian tumor for 15 years.
Topics: Male; Female; Humans; Virilism; Ovarian Neoplasms
PubMed: 38412348
DOI: No ID Found -
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 -
Archives of Dermatological Research Aug 2023The gold standard for diagnosing hirsutism is based on the modified Ferriman-Gallway (mFG) score, requiring trained and in-person evaluation. Our study aimed to evaluate...
The gold standard for diagnosing hirsutism is based on the modified Ferriman-Gallway (mFG) score, requiring trained and in-person evaluation. Our study aimed to evaluate whether using mobile phone images of the nine mFG areas could offer an alternative way to support the diagnostic of hirsutism. All patients from an endocrine outpatient clinic underwent an initial mFG evaluation by two blinded, trained examiners. Then, images of the nine mFG areas were acquired using a mobile device (48 MP) under standard conditions and artificial illumination. A cutoff mFG score of ≥ 4 (suggested by European Society of Human Reproduction and Embryology) or ≥ 6 (proposed by The Endocrine Society) has been established as the criteria for diagnosing hirsutism. After storage, the individual patients' images were submitted for mFG analysis by three independent, blinded examiners. Overall, 70 females were evaluated; 27.5% of the patients had an mFG score ≥ 4. The mean age ± SEM was 33.2 + 1.13 years. The first consideration was the evaluation of the examiners who analyzed the images. In this group, the inter-rater reliability based on the Fleiss' Kappa identified an agreement of 81.4%, with a Kappa index of 0.75 considered strong for clinical evaluations. For mFG score ≥ 6, the agreement was 77%, and the performance of Kappa Index was 0.62 (moderate). Independently of the cutoffs, the Bland-Altman analysis established a concordance of 0.89 (95% CI [0.83, 0.92]) between the in-person and image-based methods to score mFG. The lower limit of agreement of the estimated mFG scores was - 2.08 (95% CI [- 2.73, - 1.43]), and the upper limit of agreement was 4.14 (95% CI [3.491, 4.79]). We observed acceptable concordance between the image-based and in-person evaluation of mFG scores. Our results support the use of image acquisition of mFG areas as a valid approach for diagnosing hirsutism.
Topics: Female; Humans; Hirsutism; Reproducibility of Results
PubMed: 36508021
DOI: 10.1007/s00403-022-02495-0 -
Indian Journal of Public Health Oct 2023Polycystic ovarian syndrome (PCOS) is one of the most common reproductive endocrinological disorders affecting 6%-8% of women in reproductive years. An early liberal...
BACKGROUND
Polycystic ovarian syndrome (PCOS) is one of the most common reproductive endocrinological disorders affecting 6%-8% of women in reproductive years. An early liberal PCOS screening appears to be a cost-effective strategy, benefiting earlier diagnosis and intervention.
OBJECTIVES
The objectives are to measure the prevalence of PCOS and factors associated with PCOS among young girl students of a University in Central Gujarat.
MATERIALS AND METHODS
All consenting girl medical students enrolled in MBBS curriculum during 2013-2017 were given a self-administered questionnaire (for signs and symptoms of PCOS), taking due prior permissions; during January 2018-June 2019. Using Rotterdam (2006) criteria, those who were screened for PCOS were subjected to abdominal ultrasonography (USG) and if required, laboratory investigations (random blood sugar, thyroid-stimulating hormone, and free testosterone). The proportion of young women having PCOS as per the Rotterdam and European Society for Human Reproduction and Embryology (EHSRE) Criteria are reported.
RESULTS
The study enrolled 308 girl medical students. More than one-tenth of the study participants (11.7%, 36/308) had confirmed PCOS (Rotterdam Criteria). As per the EHSRE criteria, 24/36 had classic PCOS, 11/36 had ovulatory phenotype, and 01/36 had the non-hyperandrogenic phenotype PCOS. USG was required in 123/308 (39%); of which 91 consented and 16/91 (18%) had conclusive PCOS. Twenty-three girls required laboratory investigations, of which two had abnormal values suggestive of PCOS. Irregular menses and hirsutism were significantly associated with the PCOS (P < 0.05).
CONCLUSION
The proportion of young medical students with PCOS was 12%. Irregular menses and hirsutism were significantly associated with PCOS.
Topics: Humans; Polycystic Ovary Syndrome; Female; Cross-Sectional Studies; India; Adolescent; Prevalence; Universities; Young Adult; Students, Medical; Hirsutism
PubMed: 38934823
DOI: 10.4103/ijph.ijph_1508_22 -
Journal of Pediatric and Adolescent... Jun 2024The complex correlation between ethnicity and race, clinical hyperandrogenism as signified by hirsutism, and biochemical androgen concentrations in polycystic ovary...
BACKGROUND
The complex correlation between ethnicity and race, clinical hyperandrogenism as signified by hirsutism, and biochemical androgen concentrations in polycystic ovary syndrome (PCOS) is poorly understood.
STUDY OBJECTIVE
The aim of this study was to define the correlation between ethnicity/race and hirsutism score in patients with PCOS.
METHODS
We conducted a retrospective chart review of a total of 251 patients with PCOS at the time of diagnosis. Patients were categorized by their ethnicity and race into 5 main groups: Asian (n = 19, 7.6%), Black or African American (n = 11, 4.4%), Hispanic or Latino (n = 26, 10.3%), White (n = 177, 70.5), and others (n = 18, 7.2%). A general linear model was applied using BlueSky software.
RESULTS
For the entire study population, the mean age at diagnosis was 15.6 ± 1.7, the mean body mass index (BMI) was 30.6 ± 9.8, the mean hirsutism score using the modified Ferriman-Gallwey score chart was 6.2 ± 3.8, and the mean total testosterone was 40.1 ± 20. The hirsutism score was the highest in the Asian population (mean = 9.1, P = .002) and Hispanic or Latino population (mean = 7.8, P = .02), followed by others (mean = 7.4, P = .04) and the Black or African American population (mean = 7.1, P = .2), compared with the White population (mean = 5.4). This correlation remained significant despite accounting for BMI and androgen levels (P < .001).
CONCLUSION
There are factors likely related to hair follicle sensitivity or endogenous response to circulating free androgens that differ between ethnicities and races, such that similar biochemical concentrations lead to differing severity of hirsutism, despite accounting for differences in BMI and androgen levels. More research is needed in this realm to understand the pathophysiologic basis of this interaction.
Topics: Humans; Polycystic Ovary Syndrome; Hirsutism; Female; Retrospective Studies; Adolescent; Testosterone; Body Mass Index; Hispanic or Latino; Black or African American; White People; Ethnicity; Hyperandrogenism
PubMed: 38151058
DOI: 10.1016/j.jpag.2023.12.008 -
Gynecological Endocrinology : the... Mar 2024To highlight the challenges in diagnosing 46, XY disorder of sex development related to mutation. (Review)
Review
OBJECTIVE
To highlight the challenges in diagnosing 46, XY disorder of sex development related to mutation.
METHODS
We present an unusual case of a 12-year-old female child came for enlargement of clitoris and initially diagnosed as partial androgen insensitivity syndrome (AIS).
RESULTS
On examination, the patient's vulva was found virilized with 3cm-long clitoris. Her peripheral blood karyotype was 46, XY. The ultrasound showed an empty pelvis and hormone results confirmed hyperandrogenism. Therefore, the partial AIS was suspected, but the following whole exon sequencing indicates a pathological missense mutation in . Further investigation and surgery did not reveal any brain, heart, lung or diaphragm lesions related to MYRF, but only maldeveloped internal genitalia and a persistent urachus. Her serum testosterone dropped to normal after surgical removal of the remaining ipsilateral testis and epididymitis without spermatogenesis as shown by pathology.
CONCLUSION
Due to the karyotype, hyperandrogenism, empty pelvis but a virilism after puberty, the patient was initially diagnosed as partial AIS. This misleading clinical diagnose will not be verified as the mutation if without the whole exon sequencing, particularly in the absence of obvious brain, heart, lung and diaphragm lesions as in this case.
Topics: Child; Female; Humans; Male; Androgen-Insensitivity Syndrome; Hyperandrogenism; Mutation; Receptors, Androgen; Sexual Development; Transcription Factors; Membrane Proteins
PubMed: 38547923
DOI: 10.1080/09513590.2024.2331072 -
Journal of Paediatrics and Child Health 2024Hormone replacement therapy with testosterone for pubertal induction in boys with congenital hypogonadotropic hypogonadism (CHH) achieves virilization but not...
Fertility outcomes in male adults with congenital hypogonadotropic hypogonadism treated during puberty with human chorionic gonadotropin and recombinant follicle stimulating hormone.
AIM
Hormone replacement therapy with testosterone for pubertal induction in boys with congenital hypogonadotropic hypogonadism (CHH) achieves virilization but not spermatogenesis. By contrast, human chorionic gonadotropin (hCG) and recombinant follicle stimulating hormone (rFSH) provides both virilization and spermatogenesis. Fertility outcomes of boys treated with recombinant therapy during adolescence have been infrequently described. We report fertility induction and pregnancy outcomes in CHH patients treated with recombinant gonadotropins during puberty.
METHODS
Data of six subjects with CHH (n = 3 Kallmann syndrome & n = 3 Isolated hypogonadotropic hypogonadism) treated with hCG and FSH for pubertal induction were reviewed. Of these, five underwent subsequent fertility induction while one desired fertility at the end of pubertal induction.
RESULTS
Partners of all subjects achieved pregnancies using hCG and rFSH, all with full term live births. All infants were clinically normal.
CONCLUSION
This study provides early evidence of proof of concept of use of gonadotropin induction of puberty being beneficial in subsequent fertility outcome.
Topics: Adult; Pregnancy; Infant; Female; Adolescent; Humans; Male; Chorionic Gonadotropin; Hypogonadism; Follicle Stimulating Hormone; Testosterone; Fertility; Recombinant Proteins; Puberty; Virilism
PubMed: 38572627
DOI: 10.1111/jpc.16540