• Journal of mucopolysaccharidosis and rare diseases
• /
• v.2 no.1
• /
• pp.23-26
• /
• 2016

Mucopolysaccharidosis (MPS) I is a rare, progressive and multisystemic disease with insidious initial signs and symptoms, and making an early diagnosis can be a challenge for the first-line general medical practitioner. We report a 6-month-old girl who was brought to our well baby clinic for regular immunization with the manifestations of lumbar gibbus, hirsutism, large Mongolian spots over back and buttock, and mild bilateral legs spasticity noticed by the general pediatrician, and then newly diagnosed with MPS I after referral to the geneticist in time. Her surgical history included inguinal hernia repair at 1 month old, $CO_2$ laser supraglottoplasty for laryngomalacia and tracheostomy due to chronic respiratory failure with ventilator dependence at 2 months old. Understanding and identification of the early signs and symptoms of this disease have the potential to early diagnosis and timely appropriate treatment, which could contribute to a better clinical outcome.

• Clinical and Experimental Reproductive Medicine
• /
• v.48 no.3
• /
• pp.194-197
• /
• 2021

Polycystic ovary syndrome (PCOS) is a common disorder in reproductive-age women. In 2018, an international evidence-based guideline announced recommendations spanning a wide range of issues on the assessment and management of PCOS. From the 166 recommendations, the present study reviews those that are of particular clinical relevance for daily practice and introduces other relevant studies that have been published since the global guideline. The 2018 guideline increased the antral follicle count cutoff for the diagnosis of PCOS from 12 to 20 when using a high-frequency probe. Hirsutism was defined as having a score of ≥4-6 based on a lower percentile of 85%-90% or cluster analysis, which was lower than the traditionally used 95th percentile-based cutoff. The diagnosis of PCOS in adolescents is challenging, and irregular menstruation was defined carefully according to years from menarche. The use of ultrasonography for the diagnosis of PCOS was restricted to those 8 years after menarche. As medication for non-fertility indications, combined oral contraceptives are the first-line drug. Metformin, in addition to lifestyle modifications, should be considered for adult patients with a body mass index ≥25 kg/m² for the management of weight and metabolic outcomes. An aromatase inhibitor is the recommended first-line medication for ovulation induction, a subsequent individual patient data meta-analysis also reported the same conclusion. Whether the new global guideline will be fully adopted by many specialists and change clinical practice is open to question. Further studies are needed to better understand and manage PCOS patients well.

• The Korean Journal of Nuclear Medicine
• /
• v.31 no.1
• /
• pp.108-115
• /
• 1997

$^{131}I-6{\beta}$-iodomethyl-19-norcholesterol(NP-59) has an advantage to assess adrenal dysfunction caused by adrenal cortical disorders. The aim of this study is to evaluate the clinical usefulness of NP-59 scintigraphy in each adrenal disease. Ten patients who did eleven NP-59 adrenal scintigraphies at Dong-A University Hospital from March 1990 to December 1996 were selected as the subject. Among the subject there were 5 cases of Cushing's syndrome, 2 cases of incidentaloma, 1 case of metastatic adrenal tumor, liver cirrhosis with hirsutism and hypertension respectively. Among 5 cases of Cushing's syndrome, there were 2 cases of Cushing's disease, 2 cases of adrenal adenoma and 1 case of adrenal carcinoma. There are no disagreement between clinical diagnosis and scan finding in Cushing's syndrome. In 2 incidentaloma cases, even though one is interpretated as a functioning tumor, both of 2 cases could avoid unnecessary biopsy according to scintigraphy result. One case of hirsutism, clinically adrenal originated, revealed the normal scintigraphic finding after dexamethasone suppression scan. It could suggest that the etiology of hirsutism was extra-adrenal origin. One case of hypertension took the study to exclude the possibility of primary aldosteronism. Normal suppression scan finding revealed that primary aldosteronism did not exist in this case. In conclusion, NP-59 scintigraphy was very useful in diagnosis and differential diagnosis of Cushing's syndrome and it could avoid unnecessary biopsy in the incidental adrenal tumor.

• Journal of Yeungnam Medical Science
• /
• v.40 no.3
• /
• pp.308-310
• /
• 2023

Morgagni-Stewart-Morel (MSM) syndrome is characterized by the thickening of the frontal bone of the skull (hyperostosis frontalis internal), obesity, neurological symptoms, and hypertrichosis. We present the case of a 76-year-old patient who complained of confusion, extreme irritability, and headache and was diagnosed with MSM based on examination, imaging, and test results.

• Asian Pacific Journal of Cancer Prevention
• /
• v.17 no.8
• /
• pp.3747-3751
• /
• 2016

Background: Polycystic ovary syndrome (PCOS) is a combination of chronic anovulation, obesity, and hyperandrogenism and can affect sexual function in women of reproductive age. It is also associated with endometrial cancer. Our aim was to evaluate the frequency and predisposing factors of sexual dysfunction in PCOS patients. Materials and Methods: In this cross-sectional study, 16 married women with a definite diagnosis of PCOS were recruited. Sexual function was assessed in the domains of desire, arousal, lubrication, orgasm, satisfaction and pain using the female sexual function index (FSFI) questionnaire. Patients were also assessed for mental health using the depression, anxiety and stress (DASS-21) questionnaire. Presence of hirsutism was assessed using the Ferriman-Gallwey (FG) scoring system. Demographic data were obtained from patients during in-person interview. Results: Sexual dysfunction was present in 62.5% of patients with the domains of arousal and lubrication particularly affected (93.8% and 87.5%, respectively). Patients with symptoms of depression and anxiety were significantly more likely to suffer sexual dysfunction than those without these symptoms (p=0.04 and p=0.03 respectively). Patients with stress symptoms reported higher orgasm dysfunction than those without (p=0.02). No significant difference in any of the FSFI score domains was observed between patients with and without hirsutism. Conclusions: PCOS patients markedly suffer from sexual dysfunction and therefore it seems appropriate to be screened for intervention. Poor mental health conditions that may be the result of infertility or other complications of PCOS should also be considered as curable causes of sexual dysfunction in these patients.

• Clinical and Experimental Pediatrics
• /
• v.54 no.5
• /
• pp.224-227
• /
• 2011

A sclerosing stromal tumor of the ovary is an extremely rare benign tumor; it usually is found during the second and third decades of life. Patients present with pelvic pain or a palpable abdominal mass. Hormonal effects such as masculinization are uncommon. Here, an 11-year old premenarchal girl presented with deepening of the voice. In addition, clitoromegaly and hirsutism with a male suprapubic hair pattern were observed. The laboratory findings showed that the testosterone level was elevated to 3.67 ng/ml, andostenedione to above 10 ng/ml, dehydroepiandrosterone-sulfate to 346 ${\mu}g$/dl and 17-hydroxy progesterone (17-OHP) to 11.28 ng/ml. The chromosome evaluation revealed a 46,XX female karyotype. An adrenocorticotropic hormone stimulation test was performed. The 17-OHP to cortisol ratio in 30 minutes was 0.045, which suggested a heterozygote for the 21-hydroxylase deficiency. However, the CYP21A2 gene encoding steroid 21-hydroxylase showed normal. The pelvic ultrasound showed a heterogeneous mass consisting of predominantly solid tissue in the pelvic cavity. The pelvic magnetic resonance imaging revealed an $8.9{\times}6.2{\times}6.6$ cm mass of the left ovary. A left oophrectomy was performed and microscopic examination confirmed a sclerosing stromal tumor. Immunohistochemical studies showed that the tumor was positive for smooth muscle actin and vimentin, but negative for S-100 protein and cytokeratin. Following surgery, the hormone levels returned to the normal range and the hirsutism resolved.

• CELLMED
• /
• v.6 no.1
• /
• pp.6.1-6.6
• /
• 2016

Polycystic Ovarian Syndrome (PCOS) has now become more common in occurrence in women of reproductive age, particularly in urban and semi-urban population in India. So there is a need to investigate this phenomenon taking into consideration various aspects including possible treatment method to ameliorate/eradicate this syndrome, which has far reaching socio-economic impact and consequences, in view of infertility and irregular menstrual cycles frequently associated with this syndrome. Homeopathy is a branch of traditional alternative medicine which is gaining popularity in India and some other developing countries, as also in some of the developed countries in Europe. With this background scenario, we have made an attempt to treat cases of confirmed PCOS and tried to compare the relative efficacy of two potentized homeopathic drugs, namely, Lycopodium clavatum (Lyco) and Calcarea carbonica (Calc), most frequently used by homeopathic practitioners, selecting different potencies of the drugs, depending on condition/guiding symptom(s) of the patients. While the main focus was pointed on total/partial removal of cysts, data pertaining to different PCOS associated symptoms were also compared for the sake of learning if the two drugs had differential effects on these symptoms also. The study parameters in this investigation included: regularity/irregularity of menstrual cycle, presence/absence of acne, hirsutism, male type alopecia, acanthosis nigricans, body/mass index (BMI) and waist-hip ratio. Overall results provided clear evidences that both these homeopathic drugs had great ameliorating effects on PCOS, although each drug had a little different effect in respect of the individual parameters of this study.

• Clinical and Experimental Reproductive Medicine
• /
• v.21 no.3
• /
• pp.227-232
• /
• 1994

In order to define the clinical characteristics of Korean women with polycystic ovary syndrome, clinical symptoms, biochemical features and ultrasonographic findings were determined in ninety PCO patients. Frequency of clinical manifestations were as follows:acne 42%, overweight 31 %, oily skin 14 %, hirsutism 10%. Relatively low frequencies of hirsutism is recognized in patients with Korean PCO syndrome. Mean(${\pm}$S.E.) of each hormone was:testosterone 1.18${\pm}$1.07ng/ml, LH 21.47${\pm}$${\pm}$2.6mIU/ml, FSH 7.26${\pm}$2.67mIU/ml, LH/FSH ratio 2.94${\pm}$1.29, prolactin 25.48${\pm}$46.33ng/ml, DHEA-S 333.78${\pm}$309.60ng/dl, 17-0HP 1.72${\pm}$1.74ng/ml. Mean 17-OHP after ACTH stimulation test was 5.07${\pm}$12.01ng/ml. Ultrasonographically measured mean ovarian volume were $11.02{\pm}5.92cm^3$ in right and $9.23{\pm}5.64cm^3$ in left and small sized multiple subcapsular follicular cysts were noted in 43 patients (47.9%) with PCO syndrome.

• Asian Pacific Journal of Cancer Prevention
• /
• v.16 no.16
• /
• pp.7129-7138
• /
• 2015

Background: The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism and chronic anovulation, is a common endocrine disorder in women. PCOS, which is associated with polycystic ovaries, hirsutism, obesity and insulin resistance, is a leading cause of female infertility. In this condition there is an imbalance in female sex hormones. All the sequelae symptoms of PCOS gradually lead to cancer in the course of time. It is heterogeneous disorder of unknown etiology so it is essential to find the exact cause. Materials and Methods: In this study both invasive and non-invasive techniques were employed to establish the etiology. Diagnosis was based on Rotterdam criteria (hyperandrogenism, ovulatory dysfunction, PCOM) and multiparameters using buccal samples and dermatoglypic analysis and cytogenetic study for 10 cases and four age and sex matched controls. Results: In clinical analysis we have observed the mean value of total testosterone level was 23.6nmol/L, total hirsutism score was from 12-24, facial acne was found in in 70% patients with 7-12 subcapsular follicular cysts, each measuring 2-8 mm in diameter. In dermatoglypic analysis we observed increases in mean value ($45.9^{\circ}$) of ATD angle when compared with control group and also found increased frequency (38%) of Ulnar loops on both fingers (UU), (18%) whorls on the right finger and Ulnar loop on left finger (WU) and (16%) arches on right and left fingers (AA) were observed in PCOS patients when compared with control subjects. Features which could be applied as markers for PCOS patients are the presence of Ulnar loops in middle and little fingers of right and left hand. The buccal micronucleus cytome assay in exfoliated buccal cells, we found decrease in frequency of micronuclei and significant increases in frequency of karyolysed nuclei in polycystic ovarian syndrome patients. Chromosome aberration analysis revealed a significant increase in frequency of chromosome aberrations (CAs) in PCOS patients when compared with controls. Conclusions: From this present work it can be concluded that non-invasive technique like dermatoglypics analysis and buccal micronucleus cytome assays with exfoliated buccal cell can also be effective biomarkers for PCOS, along with increased CAs in lymphocytes as a sign of genetic instability. There is a hypothesis that micronuclei and chromosomal aberrations could have a predictive value for cancer. From this present work it can be concluded to some extent that non-invasive technique like dermatoglypics and buccal cell analysis can also be effective for diagnosis.

• Women's Health Nursing
• /
• v.21 no.3
• /
• pp.161-170
• /
• 2015

Purpose: This study aimed to evaluate the impact of a lifestyle modification program on menstrual irregularity among overweight and obese women with polycystic ovarian syndrome. Methods: A quasi experimental research design was used to conduct this study on 82 women with polycystic ovarian syndrome at the Gynecology and Obesity clinics of Mansoura University Hospital, Egypt. Two groups were included; the study group received a lifestyle modification program for 48 weeks, while the control group was not subjected to this program. Data collection was done for the following variables, a structured interview questionnaire was used to assess the women's general characteristics, menstrual patterns, and 24-hour dietary recall and the researcher took anthropometric measurements and assessed hirsutism by the Ferriman-Gallwey scale. Results: After one year of lifestyle modification, the number of menstrual cycles significantly increased from $2.7{\pm}1.6$ to $6.9{\pm}1.5$ (t=12.26, p<.001) in the study group compared to insignificant minor changes among the control group (t=0.69, p=.488). Additionally, 58.5% were menstruating regularly compared to none in the control group (${\chi}^2=33.93$, p<.001). Conclusion: Participating in a lifestyle modification program was effective in reducing menstrual cycle's irregularity among overweight and obese women with PCOS. Thus, it is recommended to motivate the nurses in counseling the PCOS women on lifestyle modifications.