Van Wyk-Grumbach syndrome (VWGS) is characterized by juvenile hypothyroidism, delayed bone age, isosexual precocious puberty and massive ovarian cysts. We report such a case in a 7-yearold girl who presented with a bilateral pelvic pain, abdominal distension and signs of hypothyroidism. Physical examination showed a breast development and lack of pubic and axillary hair. There was no clitoromeg...

A 30-year-old single woman presented with an incidental finding of abdominal mass associated with severe constipation. Her cancer antigen-25, alpha-foetoprotein and beta human chorionic gonadotropin levels were normal, but her carcinoembryonic antigen level was raised at 7.6 g/dL. Magnetic resonance imaging showed a 11.4 cm × 8.6 cm × 9.5 cm right ovarian mass with solid and cystic areas. An op...

Sex determination in mammals is different, as a single bipotential gonad can develop either into a testes or an ovary. If this genetic process which is largely complex gets disrupted during development of a human being it can lead to disorders of sex development. There are two separate processes by which sex development takes place namely i) sex determination whereby the bipotential gonad forms...

Three cases of Down syndrome (DS) are reported in association with features of the androgen insensitivity syndrome (AIS). All were 47, XY, +21 and reared as females. One case had a normal female phenotype, and two cases showed minimal clitoromegaly and labial fusion. Minor genital underdevelopment has been reported as common in males with DS; however, AIS has not previously been associated with...

Mild hirsutism and alopecia in postmenopausal women can be a normal physiological response. Sex cord stromal tumors of ovary account for approximately 5-8% of all ovarian tumors. When hirsutism is accompanied by signs of virilization such as severe balding, deepening of voice or clitoromegaly, an underlying androgen-secreting tumor, that may be malignant must be ruled out. We report a rare case...

We report two sibs of Turkish descent with multiple congenital anomalies including severe microcephaly, hygroma colli, cystic renal dysplasia, and bilateral cutaneous syndactyly of toes IV-V. In addition, the second sib presented with bilateral fusion of the eyelids, a bicornuate uterus, and clitoromegaly. The parents are first cousins, which suggests autosomal recessive inheritance. In reviewi...

Gastroesophageal-vul var leiomyomatosis is a very rare condition it is characterized by diffuse, ill-defined proliferation of smooth muscle in the esophagus and vulva. We present an interesting case of esophageal leiomyomatosis in a woman with a history of vulvar leiomyomatosis and a gall bladder full of stones. She was 18-years old and had a 4 year history of vulvar mass and clitoromegaly,...