A 16-year-old Indian girl presented with increased facial hair growth, weight gain, amenorrhea and generalized weakness for the last 3 months. On examination she was found to have severe hirsutism, her modified Ferriman-Gallwey score was 24/36, she had broad purple striae on abdomen, hypertension and proximal myopathy. On investigations, the patient was found to have ACTH dependent Cushing's syndrome
Cushing Syndrome ; Hirsutism

D.R. presented with hirsutism, virilization and polycythemia. Hormonal assays, imaging studies and laparotomy revealed a steroid cell tumor of the ovary. The coexistence of ovarian tumor and polycythemia is discussed.
Human ; Female ; Adult ; POLYCYTHEMIA ; HIRSUTISM ; OVARY

Virilizing tumors during pregnancy are extremely rare. This case of a 33 year old, gravid 3 para 2, presented with hirsutism and clitoromegaly at 5 months age of gestation. Her past medical and menstrual histories were non-contributory. Ultrasound done during her prenatal check-up at 34 weeks age of gestation revealed an ovarian new growth on the left ovary features suggestive of a benign nature. On her 38th week of pregnancy, LTCS III with right tubal ligation and left salpingooophorectomy were performed and a baby boy weighing 3000 grams without any gross abnormalities was delivered. Histopathologically, the tumor proved to be a benign mucinous cystadenoma. This paper presented an ovarian mucinous cystadenoma with virilizing features that are transient and reversible. Therefore, an ovarian neoplasm should always be considered as a differential diagnosis for causes of virilization during pregnancy.
Human ; Female ; Adult ; HIRSUTISM ; PREGNANCY ; CYSTADENOMA, MUCINOUS

We have experienced 3 cases of Cornelia de Lange syndrome in Korean female infants. They showed typical clinical features of a microbrachycephaly, hirsutism and characteristic face with low forehead bushy eye brows, antimongolian slant, large and depressed briedge of nose, thin protruding lips with down turning of the corners and micrognathia. They also had skeletal abnormalities and chromosomal abnormalities. The diagnosis was established by clinical, laboratory and X-ray findings. The brief review of literature was made.
Chromosome Aberrations ; De Lange Syndrome* ; Diagnosis ; Female ; Forehead ; Hirsutism ; Humans ; Infant ; Lip ; Nose

OBJECTIVES: To investigate the distribution and functional significance of CYP11alpha (tttta)n microsatellite polymorphism in Korean patients with polycystic ovary syndrome MATERIALS AND METHODS: Analysis of CYP11alpha(tttta)n microsatellite polymorphism was carried out on DNA samples from 97 patients with polycystic ovary syndrome and 70 normal controls. Comparison were done between PCOS patients and controls concerning CYP11alpha (tttta)n microsatellite polymorphism genotype or allele frequencies. RESULTS: The most frequent allele observed in the controls was an allele with six repeats (60.7%). Significant difference in the frequency of genotype (4R (-) genotype) having no copy of four-repeat-allele were observed between PCOS patients and controls (66.0% vs 34.0%, p=0.038, OR=1.939). But no significant difference was observed in the serum levels of total testosterone or free testosterone between 4R (+) genotype and 4R (-) genotype among PCOS patients. However, hyperandrogenic PCOS patients with 4R (+) genotype showed a higher serum testosterone levels compared to controls (mean+/-S.D: 0.49+/-0.21 ng/ml vs 0.37+/-0.18 ng/ml, p=0.037). CONCLUSION: The alleleic distribution of CYP11alpha (tttta)n microsatellite polymorphism in Korean subjects were different from those reported in Caucasians. CYP11alpha (tttta)n microsatellite polymorphism was associated with polycystic ovary syndrome in the Korean population, and may play a role in the synthesis of androgens in patients with polycystic ovary syndrome.
Alleles ; Androgens ; DNA ; Gene Frequency ; Genotype ; Hirsutism ; Humans ; Hyperandrogenism ; Microsatellite Repeats* ; Polycystic Ovary Syndrome* ; Testosterone

The Cornelia de Lange syndrome is characterized by severe growth and mental retardations and a cluster of minor malformations, the facial appearance being most characteristic. In the present paper, we shall report I case of this syndrome in Korean male infant and the variability of de Lange syndrome is discussed. The bady showed hirsutism, low forehead coved with lanugo-like hair, bushy eyebrows that meet in the midline, long curely eyelashes as well as low pitched, growling cry and skeletal abnormalities of hand bones. There is no positive family history and the karyotype was normal. Although the de Lange syndrome has received more interest there is no agreement as to the possible cause.
De Lange Syndrome* ; Eyebrows ; Eyelashes ; Forehead ; Hair ; Hand Bones ; Hirsutism ; Humans ; Infant ; Karyotype ; Male

Hyperandrogenism refers to classical androgen-dependent signs such as hirsutism, acne and androgenetic alopecia. Disorders that result in androgen excess include specific identifiable disorders (i.e. disorders of inclusion), but the great majority of women presenting with hirsutism and other symptoms or signs of hyperandrogenism suffer from polycystic ovary syndrome (PCOS). Hirsutism is the main hyperandrogenic symptom, defined as an excess of body hair in androgen-sensitive regions of skin in women. In this review, I attempt to focus on the pathogenesis of hirsutism, as well as clinical and biochemical features that are important in choosing therapeutic options. PCOS is the most common disorder of premenopausal women, affecting 4 to 8% of this population, and therefore, diagnostic issues of PCOS in Korean women will be addressed, specifically the reproductive and metabolic derangements and criteria for hyperandrogenism based on hirsutism and serum androgen concentrations.
Acne Vulgaris ; Alopecia ; Female ; Hair ; Hirsutism ; Humans ; Hyperandrogenism ; Polycystic Ovary Syndrome ; Skin

Polycystic ovary syndrome (PCOS) is a common disorder of premenopausal women, affecting 4 to 8% of this population. Diagnosis of PCOS lays on a combination of clinical, biological and ultrasound criteria that has been used variably worldwide. The phenotype of women with PCOS is variable depending on ethnic background and diagnostic criteria may rely on it. Fewer studies have extensively examined reproductive and metabolic characteristics and hyperandrogenism in Korean women. Despite the paucity of these studies, they are critical for the ascertainment of criteria for the diagnosis of PCOS. This review address the issues pertaining to diagnostic issues of PCOS in Korean women, specifically: reproductive and metabolic derangements and criteria for hyperandrogenism based on hirsutism and serum androgen concentrations. The prevalence (estimated) of PCOS in Korean women was 5.8%. To diagnose PCOS, the cut off value for hirsutism needs to be differently adjusted in Korean women. Regarding phenotypic characteristics of PCOS in Korean women, the various phenotypes of PCOS have the different overall morbidity (e.g. insulin resistance and hyperinsulinism, abnormal glucose metabolism and metabolic syndrome). Especially patients with oligomenorrhea/polycystic ovary and hyperandrogenism/polycystic ovary did not seem to have metabolic derangements. Thus these subgroups need to be determined if they can be classified as PCOS.
Female ; Glucose ; Hirsutism ; Humans ; Hyperandrogenism ; Hyperinsulinism ; Insulin Resistance ; Ovary ; Phenotype ; Polycystic Ovary Syndrome ; Prevalence

Partial lipodystrophy is an uncommon disorder primarily affecting women, with onset usually in childhood, characterized by slowly progressive, symrnetrical loss of aubcutaneous fat from the upper half of the body. We present a case of partial lipodystrophy in a 43-year-old woman with multiple depressed lesion on the face and reticulated atrophic lesions on the upper trunk and u]pper extremities. Typically, her face was the first part of the body so affected, giving it a characteristic cadeverous appearance, and gradu ally spreaded to the upper half of t2e body. Sirnultaneously, there was an accumulation of fat over the lower part of the body. She was generally otherwise well, although there had been an association with hyperpigmentation, hirsutism, arthralgia, thyroid disoraer, and low serum CR(45mg/dl), Riopsy specimens of iace and back showed lack of subcutaneous fat, but in the other section of the face showed hydropic degeneration of basal cells and inflammatory infiltrate in the dermis.
Adult ; Arthralgia ; Dermis ; Extremities ; Female ; Hirsutism ; Humans ; Hyperpigmentation ; Lipodystrophy* ; Subcutaneous Fat ; Thyroid Gland

Steroid cell tumors, not otherwise specified (NOS), are infrequently encountered ovarian neoplasms. They constitute <0.1% of all ovarian tumors. They usually occur in younger individuals (mean age, 43 years) and, in contrast to other steroid cell tumors, occasionally occur before puberty. The majority of these tumors produce steroids with testosterone being the most common. Various virilizing symptoms such as hirsutism, temporal baldness, and amenorrhea are common in these patients; however massive ascites is an infrequent symptom. We report a case of steroid cell tumor, not otherwise specified, with hypertension, obesity, ascites and elevated CA 125 with brief review of literature.
Alopecia ; Amenorrhea ; Ascites ; Female ; Hirsutism ; Hypertension ; Obesity ; Ovarian Neoplasms ; Puberty ; Steroids ; Testosterone