Complete Penoscrotal Transposition: Case Report and Review of the Literature

Sexton, Philippa; Thomas, Joseph; Petersen, Scott; Brown, Nicole M.; Arms, Jane E; Bryan, Jenny; Harraway, James; Gardener, Glenn

doi:10.1159/000358592

Cited by 14 publications

(14 citation statements)

References 12 publications

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“…The detected deleterious (pathological) BBS12, DNAH9, ITF81, OFD1, and TAPT1 variants known to negatively affect cilia development and function could serve as a prerequisite for other male sex organ malformations ambiguously present in the current case, such as hypospadias (Figure 1(B)) [12] and complete penoscrotal transposition [23]. Intriguingly, in the model organisms, cilium has also been shown to be a major regulator of male sexual behavior such as mate searching and selection [24] [25] [26].…”

Section: Discussionmentioning

confidence: 88%

A Rare Case of 83-Year-Old Transgender Female: Can Thyroid Hormone Deficiency Be Involved in Transgenderism and Gender Dysphoria?

Frolov¹,

Polcaro²,

Lawson³

et al. 2020

ASM

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In the current report, we describe an 83-year-old biological male who selfidentified as a female by legally changing his first and middle names to female ones and whose death certificate states his sex as a female. The medical history of this individual indicated complete penectomy without further specification. Postmortem physical examination revealed an absence of penis with a large scrotum, transposed urethral orifice, and small testes. The histological analysis of the testes identified abnormal epithelium in the seminiferous tubules that lacked germ and Sertoli cells as well as the interstitium without Leydig cells present. The exome sequencing of the individual's DNA using the Next Generation Sequencing (NGS) Illumina platform revealed no genetic variants associated with either penile or urethral cancer that could have explained the complete penectomy, but pointed toward a potentially impaired production of T3 and T4 thyroid hormones which could account for the observed testicular malformation. Overall, the data obtained raise an important question as to whether the thyroid hormone axis could be an important part of the hormonal architecture supporting male sexual behavior.An 83-year-old TF cadaver was received through Saint Louis University (SLU) School of Medicine Gift of Body Program from an individual who had given his written informed consent. The body was embalmed through the right femoral artery with a mixture of water and a solution (2:1) containing 33.3% glycerin, 28.8% phenol, 4.6% formaldehyde, and 33.3% methanol. Anatomical DissectionThe cadaveric body was dissected according to [11].A. Frolov et al. Histological AnalysisTesticular tissue was procured from the embalmed body. Tissue fixation, paraffin embedding, sectioning, and staining with hematoxylin & eosin were performed by Research Microscopy and Histology Core, Department of Pathology, Saint Louis University (SLU) School of Medicine according to the standardized procedures. Images were captured on Olympus 41BX-EPI microscope equipped with the 10× UPlan FL N, 20× LUCPlan FL, and 40× UPlan FL N objectives. The data acquisition and image analysis were performed by using CellSens Standard software. Bone DensitometryBone density of the lumbar spine and left femoral neck of the embalmed body was measured in triplicates using certified Hologic QDR-4500 X-ray Bone Densitometer in the dual energy X-ray absorptiometry (DEXA) mode following the manufacturer's protocol. The respective average T-score values were used throughout the text. LimitationsThe deleterious (pathologic) genetic variants were identified by the exome sequencing of a single proband. The high scientific value of a single proband approach to unique human cases has been recently demonstrated [27].

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Section: Discussionmentioning

confidence: 88%

A Rare Case of 83-Year-Old Transgender Female: Can Thyroid Hormone Deficiency Be Involved in Transgenderism and Gender Dysphoria?

Frolov¹,

Polcaro²,

Lawson³

et al. 2020

ASM

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“…Complete penoscrotal transposition usually occurs in conjuction with various forms of severe hypospadiasis: perineal, scrotal or penoscrotal. Other systemic abnormalities, including urinary tract as well as no genitourinary anomalies such as cardiac, gastrointestinal, craniofacial, central nervous system, growth deficiency and mental retardation are found up to 75% of patients with complete penoscrotal transposition [10,11,12,13,14,15,16,17]. Incomplete transposition tends to present as isolated anomaly [10,11,13].…”

Section: Discussionmentioning

confidence: 99%

Incomplete Penoscrotal Transposition in a Boy with Prenatally Diagnosed Klinefelter Syndrome: Case Presentation and Review of the Literature

2019

ARC Journal of Pediatrics

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Klinefelter syndrome characterized by hypergonadotropic hypogonadism, gynecomastia and azoospermia, with characteristic male karyotype 47,XXY, represents the most common major abnormality of sexual differentiation as well as and form of infertility. The syndrome is diagnosed more frequently in an adolescent or adult patient. Genital anomalies are generally not recognized as associated features. Newborns with Klinefelter syndrome usually present normal male phenotype and the only abnormal clinical symptom are small testes; however, this is recognized usually after puberty. Prepubertal diagnosis of Klinefelter syndrome, especially due to genital malformations, is a rare entity. We present a boy with prenatally diagnosed Klinefelter syndrome concomitant with penoscrotal transposition. Review of the literature on the subject is enclosed.

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“…It includes a large spectrum of anomalies, ranging from the mild bifid scrotum form to the complete penoscrotal transposition (CPST) where the scrotum is located cephalic to the penis [28]. Prenatal diagnosis of PST is difficult but it should be considered in the differential diagnosis when ambiguous genitalia or a major urogenital abnormality is suspected on the ultrasound [29].…”

Section: Penoscrotal Transpositionmentioning

confidence: 99%

An Overview of Hypospadias Surgery

Calonge¹,

Sapino²

2018

Issues in Flap Surgery

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Performed by urologists and paediatric surgeons, hypospadias procedures go unnoticed in many classical treatises of plastic surgery. Hypospadias is a very common malformation that occurs in nearly 1 in 250 male births. It consists of an abnormal opening of the urethral meatus at some point of its dorsal aspect. It is associated with an incomplete, semi-circumferential foreskin and in nearly half of the patients it may be accompanied with a curvature of the penile shaft called chordee. Most classifications differentiate between distal, middle and proximal presentations. Different techniques have been proposed for its treatment; some of the most usual ones are briefly revised. Continued improvement in surgical management has made currently practised one-stage repairs possible. We provide an introduction to the current techniques, as well as operative tips and an overview of the most common pitfalls the surgeon must bear in mind when treating this condition.

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Complete Penoscrotal Transposition: Case Report and Review of the Literature

Cited by 14 publications

References 12 publications

A Rare Case of 83-Year-Old Transgender Female: Can Thyroid Hormone Deficiency Be Involved in Transgenderism and Gender Dysphoria?

A Rare Case of 83-Year-Old Transgender Female: Can Thyroid Hormone Deficiency Be Involved in Transgenderism and Gender Dysphoria?

Incomplete Penoscrotal Transposition in a Boy with Prenatally Diagnosed Klinefelter Syndrome: Case Presentation and Review of the Literature

An Overview of Hypospadias Surgery

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