Scrotal Hypoplasia Research Articles

Orchidopexy for undescended testis—rate and predictors of re-ascent

PurposeThis study aimed to investigate the rate of re-ascent requiring re-operation after primary orchidopexy and to investigate eventual differences between the inguinal and scrotal approach as well as other potential predictors for re-ascent.MethodsA retrospective cohort study of children treated for undescended testis (UDT) with orchidopexy between 2018 and 2022 was conducted. The primary outcome was re-ascent requiring re-operation, and the secondary outcome was atrophy rate. Independent variables were age, underlying conditions, side, surgical approach, operation time, bilaterality, congenital/ascended UDT, presence of scrotal hypoplasia, presence of a patent processus vaginalis, division of external oblique, and suture of the testis. Univariate and logistic regression were used to evaluate differences between groups and risk for re-ascent.ResultsA total of 662 testes in 554 patients were included. Re-operation occurred in 6% (7% with inguinal approach, 3% with scrotal approach, p = 0.04). Re-operation was associated with younger age, congenital UDT, and inguinal approach, but neither of these variables remained significant in multivariate analyses. Atrophy occurred in one testis.ConclusionThe rate of re-ascent was 6% and the atrophy rate was 0.15%. A larger study may find predictors for re-ascent but with very low absolute risk. The lower rate of re-ascent with the scrotal approach is probably due to selection bias.

Foetal phenotype of Maat-Kievit-Brunner type Ohdo syndrome

MED12 is a member of large Mediator complex; has a very crucial and central role in RNA polymerase II transcription; regulating cell signals involved in growth, development and differentiation. Different MED12 mutations may have different clinical presentation representing an allelic disorder. Maat-Kievit-Brunner (MKB) type Ohdo syndrome; has a typical facial features comprising of blepharophimosis, ptosis, long flat philtrum with thin vermilion, micrognathia with microstomia, scrotal hypoplasia with cryptorchidism, joint hypermobility with clinodactyly with overriding toes, A primigravida on antenatal ultrasound was detected to have growth restriction, corpus callosal dysgenesis, syndactyly and suspected ambiguous genitalia. Invasive testing and exome sequencing revealed hg19chrX:MED12:c.2315A>G: (p.Lys772Arg);MED12(NM_005120.3):c.2315A>G: (p.Lys772Arg) leading to provisional diagnosis of X linked Ohdo syndrome with an overlap with FG. Missense mutation was classified to be PM2; PP3 (ACMG) Clinical presentation, phenotype and mutational analysis led to provisional diagnosis of X linked Ohdo syndrome. Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition and this is probably the first case describing foetal phenotype of MKB type of Ohdo syndrome.

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

BackgroundThe present study aimed to determine the underlying genetic factors causing the possible Warburg micro syndrome (WARBM) phenotype in two Iranian patients.Case presentationA 5-year-old female and a 4.5-year-old male were referred due to microcephaly, global developmental delay, and dysmorphic features. After doing neuroimaging and clinical examinations, due to the heterogeneity of neurodevelopmental disorders, we subjected 7 family members to whole-exome sequencing. Three candidate variants were confirmed by Sanger sequencing and allele frequency of each variant was also determined in 300 healthy ethnically matched people using the tetra-primer amplification refractory mutation system-PCR and PCR-restriction fragment length polymorphism. To show the splicing effects, reverse transcription-PCR (RT-PCR) and RT-qPCR were performed, followed by Sanger sequencing. A novel homozygous variant—NM_012233.2: c.151-5 T > G; p.(Gly51IlefsTer15)—in the RAB3GAP1 gene was identified as the most likely disease-causing variant. RT-PCR/RT-qPCR showed that this variant can activate a cryptic site of splicing in intron 3, changing the splicing and gene expression processes. We also identified some novel manifestations in association with WARBM type 1 to touch upon abnormal philtrum, prominent antitragus, downturned corners of the mouth, malaligned teeth, scrotal hypoplasia, low anterior hairline, hypertrichosis of upper back, spastic diplegia to quadriplegia, and cerebral white matter signal changes.ConclusionsDue to the common phenotypes between WARBMs and Martsolf syndrome (MIM: 212720), we suggest using the “RABopathies” term that can in turn cover a broad range of manifestations. This study can per se increase the genotype-phenotype spectrum of WARBM type 1.

Efficacy of topical testosterone in management of scrotal hypoplasia and agenesis

Scrotal hypoplasia or agenesis may posses difficulty during orchidopexy or end with social anxiety around excessively small scrotal size when compared to peers, and where there may be concerns regarding the future sexual life. Any conservative modality applicable to ameliorate scrotal underdevelopment partially or completely will be useful either solely or before reconstructive surgery. Seventeen child (3-8 years) were diagnosed with bilateral scrotal hypoplasia (SH) in 5 unilateral in 7, bilateral scrotal agenesis (SA) diagnosed in 4 cases, and unilateral in one. Testicles are either undescended, ectopic, or normal. All cases managed by Testogel 1% topical testosterone for 4 weeks. Clinical assessment by measurements of the scrotal skin surface area (scrotal length multiplied by width) and scrotal corrugations counting. Inguinal and renal ultrasound done for all cases and karyotyping for cases of agenesis and cases with bilateral undescended testicles. Total and free testosterone, LH, FSH and AMH hormones were assisted before treatment, weekly and one week after therapy. Data analyzed and evaluated, difference of means used to test for statistically significant differences between scores of scrotal development. Free and total testosterone elevated in the 1st week of treatment, but restored to normal or higher levels in 60% of cases at the 2ndweek. Satisfactory response (Increasing numbers of scrotal rugae or scrotal surface area by 30-50% above the pretreatment status) obtained in 85% and 60% of unilateral and bilateral SH, but only a partial response (10-20% increase) was gained in 40% of cases with agenesis. No major adverse effect was appreciated. Response of some cases of SH to topical testosterone indicates presence of remnants of labioscrotal folds with testosterone receptors (Bell etal., 1971) [1]. Testosterone replacement therapy can improve the signs and well-being of a hypogonadal male by restoring serum testosterone concentrations to physiologic levels. In this study the mean average testosterone concentration one week after application of testogel was 13.47±2.45 and 12.12±2.5 within 2nd, 4th week, and after cessation of treatment. Anti-Mullerian hormone is significantly low in 12 cases; mainly in cases of SA (P-value <0.001). Short term topical testosterone proved to be effective in a considerable percentage of cases of either bilateral or unilateral scrotal hypoplasia; with a subsequent increase in scrotal surface area and number of rugae, it may substitutes the indication for surgical reconstruction. Long term follow up is a limitation of this study.

Bilateral Microphthalmia with Optic Nerve Hypoplasia and Achiasmia.

A 15-year-old boy underwent neurological and ophthalmological evaluation. At birth, a severe bilateral microphthalmia, micropenis, and scrotal hypoplasia were diagnosed. Ophthalmologic examination showed right anophthalmia and severe left microphthalmia. Radiological examination showed normal orbital and skull structures. Magnetic resonance imaging (MRI), revealed the absence of the right eye, left microphthalmia, optic nerve hypoplasia, aplasia of the optic chiasm, and tracts. Audiometric examination and electroencephalogram were normal. There was no mental retardation. The chromosomal examination was normal. The patient is examination was also negative for any type of known risk factors.

The prevalence pattern of external male genital defects among secondary school students in Enugu State of Nigeria.

Enugu State typifies a Third World environment where most deliveries occur outside the hospital setting. In such circumstances, hospital-based data about congenital defects are unreliable and call for special methods of approach. To determine the prevalence and pattern of male external genital defects in Igbo male secondary school students in Nigeria. Samples of male students aged 10 years and above seen in randomly selected secondary schools in Enugu State, of South-East Nigeria were guided through a protocol involving, self administered questionnaires, personal interviews and physical examinations for evidence and types of anomalies present in their external genitalia. The participating schools were selected by stratified random sampling; first by local government Areas (LGA) and then by schools. Consents for the study were obtained from Local Government Authorities, Heads of the schools and Parents' Teachers Associations, (PTA) Executives. Altogether, four urban and thirteen rural schools were studied, and a total of 6225 male students participated. Overall, 416 (6.8%) were identified with various types of external genital anomalies, with the prevalence observed being within, the ranges of population prevalence reported in the literature. The commonest types of anomalies encountered were crypto- orchidism with / or without scrotal hypoplasia 268 (4.30%), inguino- scrotal 56 (0.90%), and hydrocoeles 52 (0.83%). As many as 183 (44%) of those with congenital genital defects were not aware that they had them. External male genital defects among Igbos appear to be within the prevalence rate reported in the literature. However the ignorance rate of such defects is high within the Igbo society.

The incidence of external male genital defects in Enugu State of Nigeria: an estimate based on the prevalence among secondary school students

Background : Enugu State typifies a Third World environment where most deliveries occur outside the hospital setting. In such circumstances, therefore, hospital-based data about congenital defects are unreliable and call for special methods of approach. Objective : To assess the place of school prevalence survey results in estimating the population incidence of anomalies of the male external genitalia. Method : From February 2, 2002 to August 1, 2004 a sample of male students aged 10 years and above seen in randomly selected secondary schools in Enugu State of Southeast Nigeria were guided through a protocol involving; self-administered questionnaires, physical examinations for evidence and types of anomalies present in their external genitalia and personal interviews. The participant schools were selected by stratified random sampling; first by Local Government Area (LGA) and then by school. Consents for the study were obtained from Local Government authorities, Heads of the schools, and Parents' Teachers Associations, (P T A) Executives. Results : Altogether, four urban and thirteen rural schools were studied over the 18 month-period of the investigation and a total of 6226 male students participated. Overall, 416 (6.8%) were identified with various types of external genital anomalies, with the prevalence rates observed being within the ranges of population prevalence reported in the literature. The commonest types of anomalies encountered were crypto-orchidism with / or without scrotal hypoplasia 268 (4.30%), inguino-(scrotal) hernias 56 (0.90%), and hydrocoeles 52 (0.83%), in descending order. As many as 183 (44%) of those with congenital genital defects were not aware they had them. When compared with urban schools, rural schools were characterized by a higher frequency [8.4% vs. 2.8% respectively; x 2 = 58.35; P Conclusion : School prevalence surveys may provide close approximations of population prevalence with respect to external male genital anomalies. There is, however, a need for further studies in this direction. Orient Journal of Medicine Vol. 18(1&2) 2006: 43-49

Xq chromosome duplication in males: Clinical, cytogenetic and array CGH characterization of a new case and review

Males with duplications within the long arm of the X chromosome are rare and most cases are inherited from a maternal heterozygote. We report a male with a de novo Xq duplication and review of the literature. The proband was ascertained prenatally after an abnormal expanded alpha-fetoprotein (AFP) screen and abnormal ultrasound findings. Chromosome analysis on amniocyte and subsequent peripheral blood lymphocyte cultures showed a male karyotype containing additional material on the long arm of the X chromosome. Fluorescence in situ hybridization with an X chromosome whole chromosome paint probe showed that the additional material was derived from the X chromosome, interpreted as a dup(X)(q13.3q24). Further characterization of the duplication by array CGH showed a duplication size between 30-44 Mb as determined by the map position of the flanking clones on the array, and refined the breakpoints of the duplicated region to Xq21.32 --> Xq25. At birth, the proband had multiple craniofacial abnormalities, musculoskeletal anomalies, bilateral cryptorchidism with scrotal hypoplasia, conductive hearing loss, and profound generalized hypotonia despite normal birthweight, length, and head circumference. Although data regarding Xq duplications in males are limited, a clear pattern of characteristic features can be discerned as illustrated in the present case and confirmed in our literature review. Mental, psychomotor and growth retardation, as well as, craniofacial anomalies, muscle hypotonia, hypoplastic genitalia, cryptorchidism, feeding difficulties, and endocrine dysfunction are all significant issues in these individuals.

Hypogonadism and pubertal development in Prader-Willi syndrome

Genital abnormalities and disorders of pubertal development such as hypogonadism are common in Prader-Willi Syndrome (PWS). Depending on age, PWS patients present genital hypoplasia and delayed or incomplete gonadal maturation. Nevertheless, only a few evaluations have been made of these findings in this syndrome; in the cases previously reported the diagnosis of PWS has often been based only on clinical criteria and not confirmed by genetic analysis. In this paper we describe both external genital findings and spontaneous pubertal development in 84 patients aged from 2.1 to 35.4 (42 males, 42 females) affected by PWS. Diagnosis was made using the Holm and Cassidy criteria and was confirmed by genetic analysis (methylation test and/or FISH). We evaluated the presence of cryptorchidism, scrotal development, length of penis and volume of testis in males and outlook of labia minora and/or clitoris, age of menarche and features of menses (when present) in females; in both sexes we also evaluated the onset of puberty. All recruited males showed cryptorchidism, which was bilateral in 36 out of 42 patients (86%); 38 patients (90%) underwent orchidopexy. Small testes and scrotal hypoplasia were present in 76% and 69% of cases, respectively. In 76% of females, hypoplasia or absence of labia minora and/or clitoris was described. Spontaneous menarche occurred only in 14/32 cases (44%) over the age of 15 years, but menstrual cycles were often a periodical vaginal spotting. Primary amenorrhea was diagnosed in 56% of cases. Isolated premature pubarche was present in six males and in six females (14% of cases) while one male and two females were affected by precocious puberty (3.6%). Hypogonadism represents a common clinical feature in PWS, confirming the importance of such a major diagnostic criterion. Cryptorchidism was consistently present in all our cases. Patients with PWS commonly fail to spontaneously complete puberty, although some patients may have early pubarche or, more rarely, precocious puberty. In older subjects, hormonal replacement therapy is not always necessary and it must be reserved for selected patients.

Two additional cases of the Ohdo blepharophimosis syndrome

Two additional cases of the Ohdo blepharophimosis syndrome are described and compared to the 5 patients previously reported. Blepharophimosis, ptosis, dental hypoplasia, mental retardation, and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia.

183 - Scrotal Hypoplasia – A Manifestation of Androgen Resistance

183 - Scrotal Hypoplasia – A Manifestation of Androgen Resistance