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

No abstract available.
Female ; Humans ; Virilism*

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

Virilization in infants and children is most commonly associated with congenitalbilateral cortical hyperplasia in the adrenogenital syndrome. Two cases of adrenogenital syndromes developed in sisters of a 15 and a 13 year-old girlsare presented with brief review of literatures.
Adolescent ; Adrenogenital Syndrome* ; Child ; Humans ; Hyperplasia ; Infant ; Siblings* ; Virilism

A 17-year-old girl presented with primary amenorrhea, short stature, and clitomegaly. Her karyotype showed Turner mosaicism of 45,X/46,XY,idic(Y)(q11.23)del(Y)(q11.23). Laparoscopic bilateral gonadectomy was performed and there was testicular tissue in left ovary.
Adolescent ; Amenorrhea ; Female ; Humans ; Karyotype ; Mosaicism ; Ovary ; Virilism

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

Neoplasms of the adrenal cortex are rare in children. Some of them are functioning malignant neoplasms. Two girls with variable degree of virilization and Cushing's sydnrome and a boy with only Cushing's syndrome, which were due to functioning adrenocortical tumors, were presented. All iesions were found in the left adrenal gland. Two of them were histologically adrenocortical calcinoma. There was no histological evidence of malignancy in the oter one in spite of considerable increasing of 24hrs urinary 17 kerosteroid excretion. A review of literature was also made.
Adrenal Cortex ; Adrenal Glands ; Child ; Cushing Syndrome ; Female ; Humans ; Male ; Virilism

Adrenocortical carcinomas are rare and frequently aggressive tumors that may be functional (hormone-secreting) and may cause Cushing's syndrome or virilization, or non-functional and manifest as an abdominal mass. This paper reports the case of a 77-year-old woman with cortisol- and aldosterone-secreting adrenal carcinoma. The patient complained of general weakness, a moon face, and weight gain. She also had hypokalemia and hypertension. Her endocrinological data showed excessive aldosterone production and non-suppressible cortisol production in a low-dose dexamethasone suppresion test. Her abdominal CT showed a right adrenal mass. She underwent right adrenalectomy, and her histology revealed the presence of adrenocortical carcinoma. After adrenalectomy, her hypokalemia returned to normal and she is being treated with hydrocortisone.
Adrenalectomy ; Adrenocortical Carcinoma ; Aldosterone ; Cushing Syndrome ; Dexamethasone ; Female ; Humans ; Hydrocortisone ; Hypertension ; Hypokalemia ; Virilism ; Weight Gain

The Sertoli-Leydig cell tumor is a rare sex cord stromal tumor of the ovary, accounting for less than 0.5% of all primary ovarian neoplasm. This tumor is the most common type of all virilizing ovarian tumors. However, only one-third of patients develop virilization. Recently, we experienced a case of intermediately differentiated Sertoli-Leydig cell tumor with amenorrhea and so we present it with brief review of literature.
Amenorrhea ; Female ; Humans ; Ovarian Neoplasms ; Ovary ; Sertoli-Leydig Cell Tumor* ; Sex Cord-Gonadal Stromal Tumors ; Virilism