Case 1 presented at age 17 with perineal hypospadias virilization without gynecomastia and a female to male gender role change at puberty. [ncbi.nlm.nih.gov]

• Turkish

  Here, we describe the clinical, hormonal, and molecular genetic characteristics of a Turkish patient with 17OHD, who presented to our clinic due to high blood pressure. [ncbi.nlm.nih.gov]

• Abdominal Mass

  The components of this syndrome are so striking that the radiologist can often suggest the diagnosis months to years before all three components are apparent, if proteinuria, hypertension, or an abdominal mass develop in any child with male pseudohermaphroditism [ncbi.nlm.nih.gov]

  We report a case of female pseudohermaphroditism diagnosed later on the discovery of an abdominal mass, then revealed to be an enormous ovarian cyst. Hormonal dosages suggested the presence of partial surrenalic b-hydroxylase deficiency. [moh-it.pure.elsevier.com]

• Projectile Vomiting

  At 2 weeks he required therapy for severe dehydration and projectile vomiting. The parents were first cousins and one female sibling had died suddenly at 2 months. [ncbi.nlm.nih.gov]

• Osteopenia

  RESULTS: Three patients presented normal bone mineral density of the lumbar column (L1-L4) and femur neck, and the other patient presented a slight osteopenia in the lumbar column. [ncbi.nlm.nih.gov]

• Suggestibility

  It is suggested that these two disorders represent different spectra of the same disorder. A unifying concept of etiopathogenesis is proposed. [ncbi.nlm.nih.gov]

Diagnostic workup showed that both hernial sacs contain testicles with the absence of ovaries, fallopian tubes and uterus. [edoriumjournals.com]

• Karyotype Abnormal

  A consistent karyotypic abnormality consisting of isochromosomes of the long arms of 1 and 17, and an interstitial deletion of the long arm of 5 was found in cultures of tumor cells, but no karyotypic abnormalities were found in peripheral blood lymphocytes [ncbi.nlm.nih.gov]

• Torsades De Pointes

  Torsades de pointes is a life-threatening arrhythmia associated with a number of causes, but is very rare among endocrinologic disorders. [ncbi.nlm.nih.gov]

• Foam Cell

  A child with male pseudohermaphroditism, Wilms' tumor, and glomerulonephritis (Drash syndrome) was found to have a proliferative glomerular lesion, extensive renal cortical interstitial and glomerular scarring, and marked renal tubular foam cell change [ncbi.nlm.nih.gov]

The addition of estrogen (ethinylestradiol, 0.05 mg daily) to dexamethasone treatment produced only poor development of the breasts six months later. [ncbi.nlm.nih.gov]

This syndrome has complete and partial forms, and its early recognition is important both for patient management and for assessment of prognosis. [ncbi.nlm.nih.gov]

Ohrlander, S. (1990) 'Lack of correlation between a high caesarean section rate and improved prognosis for low-birthweight twins (2500 g). ‎ Pagina 274 - Fetal toxoplasmosis: Outcome of pregnancy and infant follow-up after in útero treatment. J. [books.google.ro]

Prognosis With appropriate corrective surgery, the appearance of external genitalia may appear normal. However, other problems such as virilization may appear later in life. [encyclopedia.com]

[…] can provide more information on PAIS: Intersex Society of North America -- www.isna.org/faq/conditions/pais NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome Outlook (Prognosis [leehealth.org]

Among those we found 5 cases of male pseudohermaphroditism of different etiologies. Three males presented by impalpable testes with ambiguous genitalia and 2 females presented by primary amenorrhea. [ncbi.nlm.nih.gov]

The newest version of MPH classification is reviewed and discussed in relation to etiological backgrounds of each type of the disorder. [ci.nii.ac.jp]

Google Scholar 38 : Epidemiological idemiological and clinical aspects of carcinoma in situ of the testis. Eur. Urol. 1993 ; 23 : 104. Google Scholar 39 Scully, R.E.: Gonadoblastoma: a review of 74 cases. Cancer 1970 ; 25 : 1340. [auajournals.org]

Utiger EPIDEMIOLOGY The estimated incidence of male pseudohermaphroditism is between 1/20.000 and 1/99.000 live male births. Female pseudohermaphroditism has a prevalence of 1 case per 16.000 population. [flipper.diff.org]

[…] been described in which the ability to conserve sodium was intact. 108, 110, 111, 113, 115, 116, 117, 118, 119, 120, 121, 122, 123 It is claimed that 3 β -HSD deficiency is the second most common steroidogenic defect, 124 but as yet there have been no epidemiologic [glowm.com]

These findings are similar to those reported previously in patients with this syndrome and suggest a common pathophysiological abnormality in all of the patients reported so far. [ncbi.nlm.nih.gov]

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr Rev. 1998; 19 521-539 4 Hardelin J P. [doi.org]

The clinical presentations may vary according to the severity of the disorder but the pathophysiology is similar. [webmedcentral.com]

Pathophysiology of Congenital Adrenal Hyperplasia, from Medscape Reference. [flipper.diff.org]

Currently, the basic pathophysiology of the lack of androgen effect on the genitalia is understood more fully. Some patients are receptor-negative; their cytosol receptors cannot bind DHT. [emedicine.medscape.com]

The diagnosis before puberty has allowed early treatment by removal of the abnormal testes which should prevent the usual presenting clinical signs of marked masculinizatin and hirsutism at puberty. [ncbi.nlm.nih.gov]

Prevention & Expectations What are the long-term effects of the condition? A person with complete testicular feminization is a completely normal female externally. The person can lead quite normal lives, but cannot bear children. [medicineonline.com]