scholarly journals SUN-038 Social and Psychological Aspects of Partial Androgen Insensitivity Syndrome, Therapeutic Challenges

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Faryal T Masood ◽  
Zareen Kiran
Keyword(s):  
Prostate Gland ◽  
Depression Scale ◽  
Well Being ◽  
Androgen Insensitivity Syndrome ◽  
Normal Vaginal Delivery ◽  
Normal Male ◽  
Primary Amenorrhea ◽  
Androgen Insensitivity ◽  
Partial Androgen Insensitivity Syndrome ◽  
Phenotypic Female

Abstract Background: Partial Androgen Insensitivity Syndrome (PAIS) is a rare congenital condition with incongruence of chromosomal, gonadal and phenotypic sex and classified as differences of sex development. Distinct from complete Androgen Insensitivity by the presence of ambiguous genitals in a 46, XY individual with normal testis development and partial responsiveness to androgens. Clinical Case: 18 years phenotypic female presented with primary amenorrhea and ambiguous genitalia with poor secondary sexual characteristics after puberty. Born out of a consanguineous marriage, normal vaginal delivery conducted by midwife at home in a small village, who informed a female with ambiguous genital though. Since childhood she uses to dress up in female attire. She has 5 siblings, two brothers and three sisters, one year back she got engaged to her distant cousin and was about to get married when one of her younger sister now 8 years having similar problem alarmed family to report before the wedlock.Vitals:Weight 55kg,Height 167cm,Physical, biochemical, chromosomal testing and imaging revealed:micropenis 3cm(N=8cm) with hypospadias, a small blind vaginal orifice, hormones within normal male ranges, Karyotype: XY, MRI revealed no female internal organs or prostate gland, left testis seen in partly formed scrotal sac (4.6x2.5cm) right in superficial inguinal region (2.7x1.9cm),normal testes size(4x3cm), bilateral cavernous tissue,respectively. Findings suggested phenotypic female with PAIS. Further investigations could not be carried out due to poor affordability and non-availability of Genetic testing facility. Management: Male gender was preferred (after discussion with urologist and consent of the patient and the family) Assigning the gender, health-related quality of life (QoL), social and psychological well-being, and affective disorders, like fertility and sexual functions in PAIS were discussed. Psychometric data was obtained through psychological questionnaires: Beck Depression Inventory & Hospital Anxiety and Depression Scale revealed moderate depression. An important pre-decision analysis regarding the potential impact of clinical decisions such as the type and timing of genital surgeries on patient’s life is missing due to absence of a multidisciplinary team for counseling and decision making. Conclusion: After spending 18.yrs as a phenotypic female the patient and her family experienced considerable emotional distress. In our culture and society these types of cases are seldom reported. We as medical professionals need to be sensitive to the social and psychological wellbeing of patients so that they can be settled and acceptable in their part of the world.

scholarly journals Complete Androgen Insensitivity Syndrome: From Bench to Bed

2021 ◽  
Vol 22 (3) ◽  
pp. 1264
Author(s):  
Nina Tyutyusheva ◽  
Ilaria Mancini ◽  
Giampiero Igli Baroncelli ◽  
Sofia D’Elios ◽  
Diego Peroni ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Hormone Replacement ◽  
Basic Research ◽  
Well Being ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.

scholarly journals The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome

2020 ◽  
Vol 21 (21) ◽  
pp. 8403
Author(s):  
Erkut Ilaslan ◽  
Renata Markosyan ◽  
Patrick Sproll ◽  
Brian J. Stevenson ◽  
Malgorzata Sajek ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Signaling Pathway ◽  
Gene Mutation ◽  
Gene Mutations ◽  
Androgen Insensitivity Syndrome ◽  
Homologous Gene ◽  
Gene Encoding ◽  
Androgen Insensitivity ◽  
Disorder Of Sexual Development ◽  
Partial Androgen Insensitivity Syndrome

Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS patients lack AR mutations, which complicates the diagnosis. Here, we describe a patient suffering from partial androgen insensitivity syndrome (PAIS) and lacking AR mutations. The whole exome sequencing of the patient and his family members identified a heterozygous FKBP4 gene mutation, c.956T>C (p.Leu319Pro), inherited from the mother. The gene encodes FKBP prolyl isomerase 4, a positive regulator of the AR signaling pathway. This is the first report describing a FKBP4 gene mutation in association with a human disorder of sexual development (DSD). Importantly, the dysfunction of a homologous gene was previously reported in mice, resulting in a phenotype corresponding to PAIS. Moreover, the Leu319Pro amino acid substitution occurred in a highly conserved position of the FKBP4 region, responsible for interaction with other proteins that are crucial for the AR functional heterocomplex formation and therefore the substitution is predicted to cause the disease. We proposed the FKBP4 gene as a candidate AIS gene and suggest screening that gene for the molecular diagnosis of AIS patients lacking AR gene mutations.

Analysis of a Mutant Androgen Receptor Offers a Treatment Modality in a Patient with Partial Androgen Insensitivity Syndrome

1998 ◽  
Vol 33 (2) ◽  
pp. 222-226 ◽  
Author(s):  
Christian Radmayr ◽  
Zoran Culig ◽  
Alfred Hobisch ◽  
Stefan Corvin ◽  
Georg Bartsch ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Treatment Modality ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Partial Androgen Insensitivity Syndrome

scholarly journals Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene

2018 ◽  
Vol 2018 ◽  
Author(s):  
Priya Vaidyanathan ◽  
Paul Kaplowitz
Keyword(s):  
Androgen Receptor ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
List Type ◽  
Androgen Insensitivity ◽  
Estrogen Production ◽  
Partial Androgen Insensitivity Syndrome ◽  
Pubertal Gynecomastia

Summary Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. It is thought to be due to transient imbalance between the ratio of testosterone and estradiol in the early stages of puberty. It resolves in 1–2 years and requires no treatment. However, more persistent and severe pubertal gynecomastia is less common and can be associated with pathological disorders. These can be due to diminished androgen production, increased estrogen production or androgen resistance. We report a case of persistent pubertal gynecomastia due to partial androgen insensitivity syndrome (PAIS), classical hormone findings and a novel mutation in the androgen receptor (AR) gene. Learning points: Laboratory testing of follicle-stimulating hormone (FSH), leutinizing hormone (LH) and testosterone for pubertal gynecomastia is most helpful in the setting of undervirization. The hormonal finding of very high testosterone, elevated LH and estradiol and relatively normal FSH are classical findings of PAIS. Gynecomastia due to PAIS will not resolve and surgery for breast reduction should be recommended.

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