scholarly journals Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Nélio Neves Veiga-Junior ◽  
Pedro Augusto Rodrigues Medaets ◽  
Reginaldo José Petroli ◽  
Flávia Leme Calais ◽  
Maricilda Palandi de Mello ◽  
...  
Keyword(s):  
Birth Weight ◽  
Molecular Analysis ◽  
Ambiguous Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
Penile Length ◽  
Androgen Insensitivity ◽  
Molecular Defects ◽  
Partial Androgen Insensitivity Syndrome

The aim of this study was to search for clinical and laboratorial data in 46,XY patients with ambiguous genitalia (AG) and normal testosterone (T) synthesis that could help to distinguish partial androgen insensitivity syndrome (PAIS) from 5α-reductase type 2 deficiency (5α-RD2) and from cases without molecular defects in theARandSRD5A2genes. Fifty-eight patients (51 families) were included. Age at first evaluation, weight and height at birth, consanguinity, familial recurrence, severity of AG, penile length, LH, FSH, T, dihydrotestosterone (DHT), Δ4-androstenedione (Δ4), and T/DHT and T/Δ4 ratios were evaluated. TheARandSRD5A2genes were sequenced in all cases. There were 9 cases (7 families) of 5α-RD2, 10 cases (5 families) of PAIS, and 39 patients had normal molecular analysis ofSRD5A2andARgenes. Age at first evaluation, birth weight and height, and T/DHT ratio were lower in the undetermined group, while penile length was higher in this group. Consanguinity was more frequent and severity of AG was higher in 5α-RD2 patients. Familial recurrence was more frequent in PAIS patients. Birth weight and height, consanguinity, familial recurrence, severity of AG, penile length, and T/DHT ratio may help the investigation of 46,XY patients with AG and normal T synthesis.

Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty – a case series

2016 ◽  
Vol 29 (2) ◽  
Author(s):  
David Becker ◽  
Lisa M. Wain ◽  
Yih Harng Chong ◽  
Sonal J. Gosai ◽  
Nina K. Henderson ◽  
...  
Keyword(s):  
Adverse Effects ◽  
Case Series ◽  
Androgen Insensitivity Syndrome ◽  
High Dose ◽  
Long Term Outcomes ◽  
Penile Length ◽  
Androgen Insensitivity ◽  
First Case ◽  
Partial Androgen Insensitivity Syndrome

AbstractX-linked partial androgen insensitivity syndrome (PAIS) causes under-virilization at all stages of development. In two thirds of males, this results in micropenis. Dihydrotestosterone (DHT) is a potent androgen that is critical for male genital development, which when applied topically, has been shown to increase penile length with micropenis of varying etiologies. We present the first case series using topical DHT gel to treat micropenis in 46,XY males with PAIS, before, during, and after puberty.Three related 46,XY males with confirmed p.L712F androgen receptor mutations exhibited varying degrees of micropenis post-surgical correction. They were of pre-pubertal, peri-pubertal and adult ages, respectively. Following baseline clinical and laboratory assessments all completed a 4-month course of daily DHT gel 2.5% (androstanolone) topically to penis (0.3 mg/kg body weight), with monitoring for adverse effects. Primary outcome was change in stretched penile length (SPL) following treatment.Mixed results were obtained following topical DHT therapy. In the pre- and peri- pubertal patients, SPL changed from 2.5 cm to 3.5 cm (+40%), and 3.5 cm to 5.7 cm (+63%), respectively. In the adult patient with 1 year of prior high-dose weekly testosterone therapy, no additional change in SPL was seen. No adverse effects of topical DHT were reported or observed throughout the 4 months of treatment.Topical DHT treatment appears to be a safe and well-tolerated method of virilising micropenis both prior to and during puberty in children with PAIS. Questions remain about long-term outcomes into adulthood, and efficacy in adults with prior lengthy exposure to high-dose testosterone.

scholarly journals Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis

2010 ◽  
Vol 12 (4) ◽  
pp. 561-566 ◽  
Author(s):  
Amrit Bhangoo ◽  
Francoise Paris ◽  
Pascal Philibert ◽  
Francoise Audran ◽  
Svetlana Ten ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Partial Androgen Insensitivity Syndrome

scholarly journals Disorder Of Sex Development : Ambiguous Genitalia, Partial Androgen Insensitivity Syndrome

2018 ◽  
Vol 3 (2) ◽  
pp. 1
Author(s):  
Rajuddin Rajuddin ◽  
Fauzan Fauzan
Keyword(s):  
Disorders Of Sex Development ◽  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
Gender Assignment ◽  
Androgen Insensitivity ◽  
Sex Development ◽  
Molecular Term ◽  
Congenital Condition ◽  
Partial Androgen Insensitivity Syndrome

Disorders of sex development (DSDs) also known as “intersex” are congenital condition by mismatch in which chromosomal, gonadal and anatomical. One in 4.500 infants is born with abnormalities of External genitalia, and mostly unexplained in molecular term. Androgen Insensitivity Syndrome (AIS) is a common cause of DSDs. Partial Androgen Insensitivity Syndrome (PAIS) is one of three broad subdivided phenotypes of AIS. Typically, characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. In males characterized, Pais is common to observe a micropenis, hypospadias, and cryptorchidism. Individuals with PAIS that are characterized as women have been observe to have clitoromegaly and a fused labia during puberity . We reported a 13 year old child, with chief complaint primer amenorrhea. The patient admit as a girl but not yet got her menstruation. Patient was referred by Endocrinology Fertility and Reproductive Consultant of OBGYN, that has done Cromosomal and Hormonal analysis. We perform a laparascopy Exploratif and we get no uterus, fallopian tubal and ovarium that are exist. But, we found testis in inguinal canal.  Decision regarding gender assignment are still confronted between patient”s Family and medical staff. The prognosis is depends on the ambiguity of genital, Physical, and Physicosocial adjustment for sex assignment.

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
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