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Androgen Insensitivity Syndrome (androgen + insensitivity_syndrome)

Distribution by Scientific Domains
Medical Sciences75%

Selected Abstracts

A 19 Year Old with Complete Androgen Insensitivity Syndrome and Juvenile Fibroadenoma of the Breast

THE BREAST JOURNAL, Issue 6 2001
Steven E. Davis MD
We report a case of a 19-year-old female with complete androgen insensitivity syndrome (CAIS) who was diagnosed with a juvenile fibdroadenoma of the breast. The patient presented at age 18 with primary amenorrhea. She had been raised as a female and went through thelarche at age 13 and adrenarche at age 14. She had two sisters and three maternal aunts with androgen insensitivity syndrome. Physical exam revealed that the patient had no cervix, and a pelvic sonogram confirmed that the uterus was absent. Genetic analysis revealed a 46 XY karyotype. Bilateral intra-abdominal testes were noted on ultrasound and subsequently removed. She was placed on synthetic estrogen replacement therapy. Roughly 1 year following orchiectomy, the patient noticed an enlarging mass in her right breast. Physical exam revealed a roughly 5 cm mobile mass in the upper portion of the nipple-areolar complex. Ultrasound showed a solid mass consistent with a fibroadenoma. Because of the size of the lesion and the patient's hormonal make-up, a fine needle aspirate was obtained. Cytopathology showed large cohesive sheets of ductal epithelial cells, scattered histiocytes, numerous bare nuclei, fragments of fibrous tissue and metachromatic stroma. Some of the stroma was noted to be cellular. The tumor was subsequently excised. Microscopically, the lesion had epithelial and stromal hyperplasia consistent with a fibroadenoma. Phyllodes-like qualities of large size, increased stromal cellularity, and intracanalicular growth ("leaf-like projections") were noted; however, the pathologist found that the florid epithelial hyperplasia and the patient's young age were more compatible with a juvenile fibroadenoma. We describe what we believe to be the first report of a patient with CAIS and a fibroadenoma of the breast. The hormonal imbalance typically found in these patients, combined with the fact that most individuals with CAIS receive exogenous estrogen therapy, suggests that there may be a relatively high incidence of fibroadenoma in these patients. [source]

Graham Little,Piccardi,Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization)

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 4 2004
J Vega Gutiérrez
ABSTRACT Graham Little,Piccardi,Lassueur syndrome is characterized by the presence of cicatricial alopecia on the scalp, keratosis pilaris in the skin of trunk and extremities, and non-cicatricial hair loss in pubis and axillae. A frequent form of male pseudohermaphroditism is complete androgen insensitivity syndrome (CAIS), also known as testicular feminization syndrome. It refers to genetic males with XY karyotype who, owing to a lack of sensitivity in the peripheral androgenic receptors, develop a female phenotype. Axillary and pubic hair is typically scarce or absent. To our knowledge, this is the first case describing the association of the two processes. The presence of both processes in the same patient furthers our understanding of Graham Little,Piccardi,Lassueur syndrome as it rejects the influence of androgens in the alopecias accompanying this syndrome. The coincidence of non-cicatricial alopecia in axillary and pubic hair in both processes is also remarkable. [source]

Prenatal diagnosis of a fetus with androgen insensitivity syndrome (AIS)

PRENATAL DIAGNOSIS, Issue 9 2007
Ahmet Yalinkaya
Abstract Objective The aim of this study is to describe a fetus with androgen insensitivity syndrome diagnosed at mid-second trimester. Case and Methods Nuchal translucency was measured thick and double test was found higher. The patient referred to our center at 16th weeks of gestation. Fetal ultrasound examination and amniocentesis was performed. Results The nuchal translucency (NT) of fetus in present pregnancy was measured approximately 10 mm at 13 weeks and Down syndrome risk was calculated 1 in 10 by double test. On ultrasound examination; thick nuchal fold (NF) and short fetal limbs were found, and the fetus was seen a female and amniocentesis was performed. Three weeks later the fetal karyotype was reported normal as 46,XY. Thereupon the fetus reexamined for 2D and 4D ultrasound, and confirmed previous findings. The fetus was terminated at 19th weeks and seen a female phenotype. The fetal gonads removed in abdomen and testicles confirmed histopatologically. Conclusion In generally, diagnosis of AIS is most made postnatally. This is the second case in English literature, which diagnosed mid-second trimester. In this situation, the fetus with thick NT/NF and short limbs may be AIS, therefore appearance of fetal sex on ultrasound should be compared with genetic sex Copyright © 2007 John Wiley & Sons, Ltd. [source]

A 19 Year Old with Complete Androgen Insensitivity Syndrome and Juvenile Fibroadenoma of the Breast

THE BREAST JOURNAL, Issue 6 2001
Steven E. Davis MD
We report a case of a 19-year-old female with complete androgen insensitivity syndrome (CAIS) who was diagnosed with a juvenile fibdroadenoma of the breast. The patient presented at age 18 with primary amenorrhea. She had been raised as a female and went through thelarche at age 13 and adrenarche at age 14. She had two sisters and three maternal aunts with androgen insensitivity syndrome. Physical exam revealed that the patient had no cervix, and a pelvic sonogram confirmed that the uterus was absent. Genetic analysis revealed a 46 XY karyotype. Bilateral intra-abdominal testes were noted on ultrasound and subsequently removed. She was placed on synthetic estrogen replacement therapy. Roughly 1 year following orchiectomy, the patient noticed an enlarging mass in her right breast. Physical exam revealed a roughly 5 cm mobile mass in the upper portion of the nipple-areolar complex. Ultrasound showed a solid mass consistent with a fibroadenoma. Because of the size of the lesion and the patient's hormonal make-up, a fine needle aspirate was obtained. Cytopathology showed large cohesive sheets of ductal epithelial cells, scattered histiocytes, numerous bare nuclei, fragments of fibrous tissue and metachromatic stroma. Some of the stroma was noted to be cellular. The tumor was subsequently excised. Microscopically, the lesion had epithelial and stromal hyperplasia consistent with a fibroadenoma. Phyllodes-like qualities of large size, increased stromal cellularity, and intracanalicular growth ("leaf-like projections") were noted; however, the pathologist found that the florid epithelial hyperplasia and the patient's young age were more compatible with a juvenile fibroadenoma. We describe what we believe to be the first report of a patient with CAIS and a fibroadenoma of the breast. The hormonal imbalance typically found in these patients, combined with the fact that most individuals with CAIS receive exogenous estrogen therapy, suggests that there may be a relatively high incidence of fibroadenoma in these patients. [source]

ORIGINAL RESEARCH,INTERSEX AND GENDER IDENTITY DISORDERS: Gender Assignment and Medical History of Individuals with Different Forms of Intersexuality: Evaluation of Medical Records and the Patients' Perspective

THE JOURNAL OF SEXUAL MEDICINE, Issue 4i 2007
Lisa Brinkmann PhD
ABSTRACT Introduction., Until now, there are only few studies that focus on the specific treatment experiences of people with intersexuality and evaluate their outcome in terms of psychological, physical, and social well-being. Further, the presentation of the patients' perspective is often neglected in research. Aim., Overview of preliminary results of the Hamburg-Intersex-Study on gender assignment and medical history of adult subjects with intersexuality (disorders of sex development), as well as the patients retrospectively stated thoughts and feelings regarding these interventions. Main Outcome Measures., Medical records from participants of the study were analyzed. The subjective attitudes and evaluation of the treatment measures were assessed with a self-constructed questionnaire. Data on psychological well-being were measured with the Brief Symptom Inventory. Methods., In total, 37 adult participants (mean age 30.6 years) with following diagnosis were included: congenital adrenal hyperplasia, complete and partial androgen insensitivity syndrome, gonadal dysgenesis and disturbances of the androgen biosynthesis, such as 5 alpha reductase deficiency and 17 beta hydroxysteroid deficiency. Results., The majority of participants had (often multiple) genital surgery to correct the appearance of their genitalia and/or to enable sexual functioning. The diagnostic groups differ not only in amount and invasiveness of experienced surgical and medical treatment but also in the subjective and retrospective evaluation of the treatment measures and in the amount of reported psychological distress. Conclusion., Many subjects stated to have experienced the medical procedures and care very negatively, whereby the aspects of secrecy, untruthfulness, and concealment were stated as most difficult and burdening. Brinkmann L, Schuetzmann K, and Richter-Appelt H. Gender assignment and medical history of individuals with different forms of intersexuality: Evaluation of medical records and the patients' perspective. J Sex Med 2007;4:964,980. [source]