Results 121 to 130 of about 3,098 (225)
Fraser Syndrome: case report in lacrimal system [PDF]
, 2014 Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities.
Briceño, César Augusto +5 more
core +3 more sources
True hermaphrodite presenting as primary amenorrhea
Indian Journal of Endocrinology and Metabolism, 2012 True hermaphrodite is one of the rare variety of disorders of sex development. Most of them are genotypically females (46 XX) and present as under virilized males. Features of hyperandrogenism are present in those reared as females.
Lal Bahadur Palo +3 more
doaj +1 more source
Leydig Cell Tumour and Mature Ovarian Teratoma: Rare Androgen-Secreting Ovarian Tumours in Postmenopausal Women [PDF]
, 2016 Androgen-secreting ovarian tumours are extremely rare accounting for
Agapito, A +3 more
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Case Reports in Endocrinology, 2018 Androgen-secreting ovarian neoplasms are rare ovarian tumors that present with hirsutism and virilization which may manifest as severe alopecia, deepening of voice, and clitoromegaly.
Bindu Gandrapu +2 more
doaj +1 more source
Indian Journal of Endocrinology and Metabolism, 2012 Objective : To determine the proportion of polycystic ovarian syndrome (PCOS) patients who have normal body mass index (BMI) and to compare the clinical, hormonal, and metabolic profile between lean and overweight patients of PCOS. Materials and Methods:
Pikee Saxena +3 more
doaj +1 more source
BMC Medical Genetics, 2018 Background Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2.
Yılmaz Kor +5 more
doaj +1 more source
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. [PDF]
, 2017 Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex-determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes ...
Alaniz, Veronica +8 more
core +1 more source
Radiology Case Reports, 2022 Neurofibromatosis is a rare genetic disorder that typically affects the nerves and causes benign tumors. It also affects different parts of the body, including the bone, skin, and genitourinary system. We report a case of a 6-year-old girl medically free
Ayman Khushaim, MD +2 more
doaj
Classic virilizing congenital adrenal hyperplasia presenting late: case series from Pakistan [PDF]
, 2009 Deficiency of 21 hydroxylase enzyme deficiency (21OH) activity accounts for 90% cases of congenital adrenal hyperplasia (CAH). This results in deficient cortisol, increased ACTH, adrenal hyperplasia and increased adrenal androgen secretion.
Aban, Muniba +6 more
core +1 more source
Epidermoid cyst of the clitoris: a rare cause of clitoromegaly.
APSP journal of case reports, 2013 Epidermoid cysts are slowly growing tumors that arise due to invagination of epidermis into dermis either spontaneously or following trauma. While common locations are the face, scalp, neck and trunk, external genitalia can also be affected with scrotal, labial or clitoral involvement.
openaire +3 more sources