Disorders of sex development (DSD) are characterized by atypical development of chromosomal, gonadal, or phenotypic sex. 45X,46XY mosaicism is a type of sex chromosome DSD which presents with a wide heterogeneity of manifestations. We report the case of a 13-year-old phenotypically female who presented with clitoromegaly at puberty. Testosterone level was elevated on serology. Out of the 50 cells examined, 43 cells had Monosomy X while 7 cells had a normal male karyotype. She was managed by a multidisciplinary team. Due to the presence of Y chromosome, the solid nodular structure seen on the right gonad in magnetic resonance imaging and the pain caused by the phallus, Laparoscopic bilateral gonadectomy, salpingectomy and clitoroplasty were done after a shared decision making. Histopathology revealed Gonadoblastoma and Germ cell neoplasia-in-situ of the right gonad justifying timely removal. She was then maintained on estrogen for induction of secondary sexual characteristics.

Ovarian steroid cell tumors are composed exclusively of cells that have the histologic features of steroid hormone secreting cells. And these are rare lesions and have been divided into four subtyes according to their size, location in the ovary, and presence or absence of crystals of Reinke in the cytoplasm as follows: stromal luteomas, hilus cell tumors, Leydig cell tumors (non-hilar type), and steroid cell tumors not otherwise specified. Steroid cell tumors often secret androgens, and manifest themselves with symptoms of virilization. Other presenting manifestations include hirsutism, amenorrhea, obesity, hypertension and alopecia. We experienced a case of ovarian steroid cell tumor, manifested by obesity and amenorrhea and present with a brief review of the literatures.
Alopecia ; Amenorrhea ; Androgens ; Cytoplasm ; Female ; Hirsutism ; Hypertension ; Leydig Cell Tumor ; Luteoma ; Obesity* ; Ovary ; Virilism

Objectives: To describe the phenotype variation in Indonesian 46,XX late-identified congenital adrenal hyperplasia(CAH) and the correlation between 17-hydroxyprogesterone (17-OHP) and genital virilization. Methodology: Retrospective study of 39 cases with five salt-wasting (SW) and 34 simple virilizing (SV) types. Results: The median age of the patients was 9.83 years (range, 0.58 to 44 years) with Prader score 2 to 5. Clitoromegaly (100%) and skin hyperpigmentation (87%) were the most common features. Lack of breast development(Tanner 1 to 2) and menstrual disorders occurred in 9 patients (teenagers and adults). Short stature (6), low voice (14),prominentAdam’s apple (9) and hirsutism (4) were found only in SV types Rapid growth (7) and precocious puberty (8)were identified in children. Male gender on admission was found in 13 patients. The mean of 17-OHP level was 304.23nmol/L [standard deviation (SD) 125.03 nmol/L]. There was no correlation between 17-OHP levels and virilization(r=0.19, p>0.05). Conclusion Late-identified CAH showed severe virilization and irreversible sequelae, with clitoromegaly and skinhyperpigmentation as the most commonly seen features. Masculinization of CAH females created uncertainty withregard to sex assignment at birth, resulting in female, male and undecided genders. There is no significant correlationbetween 17-OHP levels with the degree of virilization in CAH females
Phenotype ; Virilism

A 51-year-old perimenopausal female patient presented with hirsutism and voice thickening which was started approximately one and a half years ago. Her initial hormone assay revealed elevated plasma testosterone, 5a-dihydrotestosterone, and dehydroepiandrosterone (DHEA) levels and therefore androgen-secreting tumor was first suspected. However, the lesion was inconspicuous on transvaginal sonography, abdominal-pelvic computed tomography (CT) scan, and pelvic magnetic resonance (MRI) imaging. Consequently, 18F-fluorodeoxyglucose (FDG) positron emission tomography-CT was performed, which localized the lesion as a focal FDG uptake within the right adnexa. Total laparoscopic hysterectomy with bilateral salpingo-oophorectomy was performed, and although visible gross mass lesions were not observed intraoperatively, pure Leydig cell tumor was pathologically confirmed within the right ovary. Plasma testosterone, 5a-dihydrotestosterone, and DHEA levels were normalized postoperatively. Clinical signs of virilization were also significantly resolved after 3-months of follow-up.
Dehydroepiandrosterone ; Diagnosis ; Electrons ; Female ; Follow-Up Studies ; Hirsutism ; Humans ; Hysterectomy ; Leydig Cell Tumor ; Middle Aged ; Ovary ; Plasma ; Sertoli-Leydig Cell Tumor ; Testosterone ; Virilism ; Voice

No abstract available.
Female ; Humans ; Virilism*

BACKGROUND: Being obese during adolescence leads to undue physical or psychological problems and may increase the incidence of cardiovascular disease or endocrinological disorders. Recently authors have experienced a case of hyperinsulinemic obese girl with virilization. We report it with a review of the literature. CASE: A 17-year old female came into 'obesity clinic' of Asan Medical Center due to weight gain. She had virilizing feature, hirsutism, underdeveloped female sexual characteristics, and acanthosis nigricans. Work-up by laboratory tests and imaging studies showed very severe obesity with metabolic disturbances, and hyperandrogenism with hyperinsulinemia. Treatment for obesity was multidisciplinary method including behavior modification, calorie restriction, exercise, and medication with fluoxetine 40mg po qd, and for hyperandrogenism, provera 10mg po qd was described. CONCLUSIONS: Severe hyperinsulinemia in obese female leads to male-type hirsutism, disturbance of menstrual cycle, abdominal obesity, and cardiovascular disorders. One of the physical findings of hyperinsulinemia or insulin resistance is acanthosis nigricans. So, if an female obese patient have acanthosis nigricans with hyperinsulinemia, should be assessed and treated for risk factors of cardiovascular disorders and hormonal disturbances.
Acanthosis Nigricans ; Adolescent* ; Behavior Therapy ; Cardiovascular Diseases ; Chungcheongnam-do ; Female* ; Fluoxetine ; Hirsutism ; Humans ; Hyperandrogenism ; Hyperinsulinism ; Incidence ; Insulin Resistance ; Medroxyprogesterone Acetate ; Menstrual Cycle ; Obesity ; Obesity, Abdominal ; Obesity, Morbid ; Risk Factors ; Virilism* ; Weight Gain

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 microg/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 8.9x6.2x6.6 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.
Actins ; Adrenocorticotropic Hormone ; Female ; Hair ; Heterozygote ; Hirsutism ; Humans ; Hydrocortisone ; Karyotype ; Keratins ; Magnetic Resonance Imaging ; Male ; Muscle, Smooth ; Ovarian Neoplasms ; Ovary ; Pelvic Pain ; Progesterone ; Reference Values ; S100 Proteins ; Sex Cord-Gonadal Stromal Tumors ; Steroid 21-Hydroxylase ; Testosterone ; Vimentin ; Virilism ; Voice

We report here on a 26-year-old pregnant female who developed hirsutism and virilization during her third trimester along with a significantly elevated serum testosterone level. Abdominal US and MR imaging studies were performed, and they showed unique imaging features that may suggest the diagnosis of pregnancy luteoma in the clinical context. After the delivery, the serum testosterone level continued to decrease, and it returned to normal three weeks postpartum. The follow-up imaging findings were closely correlated with the clinical presentation.
Adult ; Contrast Media ; Diagnosis, Differential ; Female ; Gadolinium DTPA/diagnostic use ; Hirsutism/etiology ; Humans ; Luteoma/complications/*diagnosis ; Magnetic Resonance Imaging ; Ovarian Neoplasms/complications/*diagnosis ; Pregnancy ; Pregnancy Complications, Neoplastic/*diagnosis ; Pregnancy Outcome ; Ultrasonography, Prenatal ; Virilism/etiology

Virilization is the masculinization and enhancement of male secondary sexual characteristics in females. The etiology may be of adrenal or ovarian in origin. This case report shows a 46 year old woman who presented with defeminizing and virilizing symptoms. Further laboratory investigations revealed increased serum androgen levels and normal CT scan of the adrenals and kidneys. An ovarian mass was confirmed by transrectal ultrasonography. Following a total abdominal hysterectomy and bilateral salpingooophorectomy, histopathological and immunohistochemistry studies on the left ovarian mass confirmed an androgen-secreting, steroid-cell tumor, not otherwise specified (NOS). Serum testosterone values abruptly declined to normal levels within 1 month post-surgery. This paper likewise discusses an extensive review of literature regarding this rare ovarian tumor.

Adrenocortical carcinoma is a rare tumor in children. This tumor is more likely to be hormonally active in children than in adults and tends to cause a variety of symptoms. These tumors are usually diagnosed at the advanced stages and have a dismal prognosis. Here we report a case of a functioning adrenocortical carcinoma in a child with a review of the relevant literature.
Adrenocortical Carcinoma* ; Adult ; Child* ; Humans ; Prognosis ; Virilism