Ventral clitoroplasty preserves dorsal nerves in case of partial androgen insensitivity syndrome: 4 years follow‐up

2021 ◽  
Author(s):  
Niraj N. Mahajan ◽  
Nandita Kaushal ◽  
Alka A. Subramanyam ◽  
Nikhil M. Bhagwat
Keyword(s):  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Partial Androgen Insensitivity Syndrome ◽  
Dorsal Nerves

Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia

2012 ◽  
Vol 97 (5) ◽  
pp. 403-409 ◽  
Author(s):  
Philip Hellmann ◽  
Peter Christiansen ◽  
Trine Holm Johannsen ◽  
Katharina M Main ◽  
Morten Duno ◽  
...  
Keyword(s):  
Androgen Insensitivity Syndrome ◽  
Reproductive Hormones ◽  
Androgen Insensitivity ◽  
Male Patients ◽  
Partial Androgen Insensitivity Syndrome

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.

Partial Androgen Insensitivity Syndrome and t(X;5): Are There Upstream Regulatory Elements of the Androgen Receptor Gene?

2004 ◽  
Vol 62 (4) ◽  
pp. 208-214 ◽  
Author(s):  
K.M. Lower ◽  
R. Kumar ◽  
E. Woollatt ◽  
L. Villard ◽  
J. Gecz ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Regulatory Elements ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Partial Androgen Insensitivity Syndrome

scholarly journals Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family

2011 ◽  
Vol 4 (1) ◽  
Author(s):  
Reginaldo J Petroli ◽  
Andréa T Maciel-Guerra ◽  
Fernanda C Soardi ◽  
Flávia L de Calais ◽  
Gil Guerra-Junior ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Partial Androgen Insensitivity Syndrome

Postnatal germ cell development during first 18 months of life in testes from boys with non-syndromic cryptorchidism and complete or partial androgen insensitivity syndrome

2019 ◽  
Vol 54 (8) ◽  
pp. 1654-1659 ◽  
Author(s):  
Ruili Li ◽  
Damian Azzollini ◽  
Ruidong Shen ◽  
Jorgen Thorup ◽  
Erick Clasen-Linde ◽  
...  
Keyword(s):  
Germ Cell ◽  
Androgen Insensitivity Syndrome ◽  
Cell Development ◽  
Androgen Insensitivity ◽  
Germ Cell Development ◽  
Partial Androgen Insensitivity Syndrome
Sign in / Sign up

Export Citation Format

Share Document