Highlight: The diagnosis and therapy of Congenital Adrenal Hyperplasia (CAH) children with crisis (AC) case report. is a life-threatening emergency that contributes to the high death rate adrenal insufficiency. early detection prompt treatment can improve outcomes patients CAH AC. Abstract: acute complication patient congenital hyperplasia. hyperplasia rare condition. Children commonly come roo...

Abstract Introduction External genitalia are considered to be ambiguous whenever there is difficulty assigning gender a child based on the appearance of external genitalia. It common presentation Disorders Sexual Development (DSD). Objective Reported here case 22year old single undergraduate identified as female who had disorder sexual development with resulting from congenital adrenal hyperpla...

Li–Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer associated with germline pathogenic variants in the tumor protein p53 (TP53) gene and elevated risk of a broad range early-onset malignancies. Patients LFS are at second third primary tumor. A 15-month-old girl consulted for clitoromegaly pubic hair. Adrenal ultrasound detected large left adrenal Left total adrenalectomy conf...

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, wit...

Adrenocortical carcinoma (ACC) is a relatively rare but an aggressive neoplasm that can have variety of manifes­tations. It manifest in the form virilization, hyperaldosteronism, cushingoid features or combination that. Due to rapid appearance signs and symptoms children, these tumours be diagnosed early however if delayed bear worse prognosis as they tend metastasize course disease progression...

The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be seen. Two cousins of a previously rep...

OBJECTIVE To verify the conclusions of the Endocrine Society Guidelines that patients with mild hirsutism and no other important clinical signs (menstrual irregularities, infertility, central obesity, acanthosis nigricans, rapid progression of the hirsutism, clitoromegaly) should not be further studied. DESIGN Retrospective study in patients referred because of mild hirsutism and no other cli...

Steroidogenic factor-1 (SF-1) (Ad4BP, NR5A1) is a nuclear receptor that regulates many aspects of adrenal and reproductive development and function. Consequently, deletion of the gene (Nr5a1) encoding Sf-1 in XY mice results in impaired adrenal development, complete testicular dysgenesis with Mullerian structures, and female external genitalia. Initial efforts to identify NR5A1 changes in human...

The biochemical diagnosis of 21-hydroxylase deficiency (21-OHD) is difficult in preterm infants. To date, no marker for the biochemical diagnosis of 21-OHD has been found. Seventeen α-hydroxyprogesterone (17-OHP), is not useful because of interference by delta 5 steroids from the fetal adrenal cortex. A 5-d-old female infant, born at 31 wk of gestation, was suspected of having 21-OHD based on p...