ABSTRACT
Urinary leakage is prevalent in men. To contain and manage this leakage, men are often advised about urinary devices. However, sometimes this advice does not include penile sheaths. Penile sheaths are a good way of managing urinary leakage if an individual is suitable for sheaths. This article will explore this suitability, advantages to using a sheath, reasons why sheaths may not be suitable, and will discuss optimum fitting to ensure the sheath is a secure drainage device.
Subject(s)
Urinary Incontinence , Humans , Male , Urinary Incontinence/nursing , Urinary Incontinence/therapy , Urinary Catheterization/nursing , Urinary Catheterization/instrumentation , Urinary Catheterization/adverse effects , Penis , Urinary Catheters/adverse effectsABSTRACT
BACKGROUND: This study aimed to evaluate the histopathological and biochemical effects of ketamine on penile tissues following ischemia-reperfusion injury induced by priapism. METHODS: Twenty-four male rats were randomized into three groups. Group 1 served as the control group. Group 2 underwent the priapism model to induce ischemia-reperfusion injury. Group 3, the treatment group, experienced a similar ischemia-reperfusion model as Group 2; additionally, 50 mg/kg of ketamine was administered intraperitoneally just before reperfusion. Blood biochemical analyses and penile histopathological evaluations were performed. RESULTS: In Group 3, significant improvements were observed in all histopathological scores, including desquamation, edema, inflammation, and vasocongestion compared to Group 2 (p<0.001). Blood biochemical analyses showed that the malondialdehyde (MDA) levels were recorded as 10 in Group 2, with a significant decrease in Group 3 (p=0.013). Similarly, proinflammatory cytokine levels, including interleukin-1 beta (IL-1ß), interleukin-6 (IL-6), and tumor necrosis factor-alpha (TNF-α), were found to be suppressed in Group 3 compared to Group 2 (p=0.003, p=0.022, and p=0.028, respectively). Antioxidant enzyme activities, such as glutathione peroxidase (GSH-Px) and superoxide dismutase (SOD), were higher in Group 3 compared to Group 2 (p=0.016 and p=0.024, respec-tively). CONCLUSION: Ketamine is an effective anesthetic agent in alleviating the effects of penile ischemia-reperfusion injury.
Subject(s)
Disease Models, Animal , Ketamine , Malondialdehyde , Penis , Priapism , Reperfusion Injury , Animals , Ketamine/administration & dosage , Ketamine/pharmacology , Ketamine/therapeutic use , Male , Priapism/drug therapy , Priapism/etiology , Rats , Penis/drug effects , Penis/blood supply , Penis/pathology , Reperfusion Injury/drug therapy , Reperfusion Injury/metabolism , Malondialdehyde/metabolism , Tumor Necrosis Factor-alpha/blood , Tumor Necrosis Factor-alpha/metabolism , Random Allocation , Anesthetics, Dissociative/administration & dosage , Interleukin-1beta/metabolism , Interleukin-1beta/bloodABSTRACT
AIM: Increased corpus cavernosum smooth muscle cells (CCSMCs) apoptosis in the penis due to cavernous nerve injury (CNI) is a crucial contributor to erectile dysfunction (ED). Caveolin-1 scaffolding domain (CSD)-derived peptide has been found to exert potential antiapoptotic properties. However, whether CSD peptide can alleviate CCSMCs apoptosis and ED in CNI rats remains unknown. The study aimed to determine whether CSD peptide can improve bilateral CNI-induced ED (BCNI-ED) by enhancing the antiapoptotic processes of CCSMCs. MAIN METHODS: Fifteen 10-week-old male Sprague-Dawley (SD) rats were randomly classified into three groups: sham surgery (Sham) group and BCNI groups that underwent saline or CSD peptide treatment respectively. At 3 weeks postoperatively, erectile function was assessed and the penis tissue was histologically examined. Furthermore, an in vitro model of CCSMCs apoptosis was established using transforming growth factor-beta 1 (TGF-ß1) to investigate the mechanism of CSD peptide in treating BCNI-ED. KEY FINDINGS: In BCNI rats, CSD peptide significantly prevented ED and decreased oxidative stress, the Bax/Bcl-2 ratio, and the levels of caspase3. TGF-ß1-treated CCSMCs exhibited severe oxidative stress, mitochondrial dysfunction, and apoptosis. However, CSD peptide partially reversed these alterations. SIGNIFICANCE: Exogenous CSD peptide could improve BCNI-ED by inhibiting oxidative stress, the Bax/Bcl-2 ratio, and caspase3 expression in penile tissue. The underlying mechanism might involve the regulatory effects of CSD peptide on oxidative stress, mitochondrial dysfunction, and apoptosis of CCSMCs following CNI. This study highlights CSD peptide as an effective therapy for post-radical prostatectomy ED (pRP-ED).
Subject(s)
Apoptosis , Caveolin 1 , Erectile Dysfunction , Mitochondria , Myocytes, Smooth Muscle , Oxidative Stress , Penile Erection , Penis , Rats, Sprague-Dawley , Animals , Male , Apoptosis/drug effects , Oxidative Stress/drug effects , Rats , Erectile Dysfunction/drug therapy , Erectile Dysfunction/metabolism , Erectile Dysfunction/etiology , Penis/drug effects , Penis/innervation , Penis/pathology , Caveolin 1/metabolism , Mitochondria/drug effects , Mitochondria/metabolism , Penile Erection/drug effects , Myocytes, Smooth Muscle/drug effects , Myocytes, Smooth Muscle/metabolism , Peptides/pharmacologySubject(s)
Elephantiasis, Filarial , Filaricides , Wuchereria bancrofti , Animals , Humans , Male , Elephantiasis, Filarial/complications , Elephantiasis, Filarial/diagnosis , Elephantiasis, Filarial/drug therapy , Filaricides/administration & dosage , Filaricides/therapeutic use , Wuchereria bancrofti/isolation & purification , Aged , Treatment Outcome , Doxycycline/therapeutic use , Albendazole/administration & dosage , Albendazole/therapeutic use , Diethylcarbamazine/administration & dosage , Diethylcarbamazine/therapeutic use , Edema/etiology , Edema/parasitology , Penis , Scrotum , Leg , Magnetic Resonance ImagingSubject(s)
Penile Implantation , Humans , Male , Penile Implantation/adverse effects , Penile Implantation/methods , Postoperative Complications/prevention & control , Postoperative Complications/etiology , Penis/blood supply , Penis/surgery , Penis/injuries , Erectile Dysfunction/etiology , Penile ProsthesisABSTRACT
BACKGROUND High-flow (non-ischemic) priapism is a rare urological condition usually related to blind trauma to the penis or perineum causing an arterial-lacunar fistula. It can be treated conservatively, but in some cases when conservative treatment fails, the interventional approach is indicated. In the past, only surgical treatment was available, which was associated with a significant risk of complications. Endovascular techniques use a novel approach and offer clinical benefits for the patient. CASE REPORT A 51-year-old man was admitted to the hospital after referral from the urology department with high-flow priapism related to blunt trauma. Angio-computed tomography showed extravasation of contrast medium to the corpus cavernosum, and angiography revealed a fistula between the distal segment of the left internal pudendal artery and corpora cavernosa. A successful endovascular microembolization of the arterial-lacunar fistula with the use of microcoils was performed. The postprocedural period was uneventful and the patient was discharged. Despite incomplete angiographic follow-up at 6 months, the initial symptoms were fully resolved with the absence of any erectile dysfunction and no recurrence of priapism occurred. CONCLUSIONS Post-traumatic high-flow priapism can be safely and effectively treated by endovascular means. Microembolization has proven to be successful and beneficial to preserve sexual functions.
Subject(s)
Embolization, Therapeutic , Endovascular Procedures , Penis , Priapism , Humans , Male , Priapism/etiology , Priapism/therapy , Middle Aged , Embolization, Therapeutic/methods , Penis/blood supply , Penis/injuries , Endovascular Procedures/methods , Wounds, Nonpenetrating/complicationsABSTRACT
Peyronie's Disease (PD) is clinically characterized by the development of localized fibrous plaques, primarily on the tunica albuginea, especially on the dorsal area of the penis. These plaques are the hallmark feature of this condition, resulting in penile curvature, deformity, and painful erections for affected individuals. Although various nonsurgical treatment options exist, their overall effectiveness is limited. As a result, surgical intervention has become the ultimate choice for patients with severe penile curvature deformities and associated erectile dysfunction. Our research team has successfully employed a combined approach involving microscopic electric rotary grinding of the fibrous plaques and the use of tunica vaginalis or bovine pericardium as graft materials for the repairing of the defects of tunica albuginea in the treatment of PD. This approach has consistently yielded highly satisfactory results regarding the restoration of penile shape, with excellent cosmetic results and significantly improved sexual satisfaction. This protocol aims to present a comprehensive surgical management strategy utilizing electric rotary grinding of the plaques and repairing the defects of tunica albuginea by using the tunica vaginalis, which represents an optimal surgical strategy for treating PD.
Subject(s)
Erectile Dysfunction , Penile Induration , Plaque, Atherosclerotic , Male , Humans , Animals , Cattle , Penile Induration/surgery , Penis , Erectile Dysfunction/etiology , Erectile Dysfunction/surgery , Fibrosis , Plaque, AmyloidABSTRACT
PURPOSE: In children, circumcision is a procedure associated with perioperative pain and parental satisfaction is an important parameter in the evaluation of anesthesia procedures. Inadequate dorsal penile nerve block (DPNB) for the ventral shaft of the penis might impact parental satisfaction negatively. To evaluate this hypothesis, we compared the effects of penile ring block (RB) and dorsal penile nerve block (DPNB) on parental satisfaction. Postoperative pain, need for additional analgesia, intraoperative hemodynamic data, recovery status, side effects, and postoperative complications were evaluated as secondary outcomes between the blocks. METHODS: Parental satisfaction and anesthetic effectiveness of RB and DPNB for circumcision in children were compared. 86 patients were randomized 1:1 to Group RB and Group DPNB, which were administered the same dose of anesthesia. Parental satisfaction was evaluated with the Pediatric Anesthesia Parental Satisfaction Questionnaire (PAPS). Postoperative pain evaluations were made with the Face, Legs, Activity, Crying, Consolability Pain Scale (FLACC). RESULTS: In terms of parent satisfaction, no differences were detected between the groups in the pre-anesthesia, pre-anesthesia and post-anesthesia, post-anesthesia, hospital team, and anesthesia team parameters (p > 0.05). The scores of Group DPNB patients were higher only in the "Q11" subparameter in the "anesthesia team" parameter, and this difference was significant (0.024). CONCLUSION: RB and DPNB were compared in circumcision, which is the most common surgical procedure for children. Parental satisfaction, anesthesia, and analgesic effects of both blocks were found to be similar. CLINICAL TRIALS: ACTRN12622001211752.
Subject(s)
Circumcision, Male , Nerve Block , Pudendal Nerve , Male , Humans , Child , Pain, Postoperative/prevention & control , Penis/surgeryABSTRACT
OBJECTIVES: To evaluate the efficacy of a novel approach to achieve the optimal penile erection during the penile doppler ultrasound (PDU) examination, which was oral sildenafil combined alprostadil injection. MATERIALS AND METHODS: A total of 60 ED patients were enrolled in our prospective study, and they were randomly assigned to two group with different PDU order. The approaches assisted the PDU included two models, mode A meaning injection of 15 µg alprostadil and model B meaning oral sildenafil 100 mg plus injection of 15 µg alprostadil. The PDU parameters were measured continuously before induced erection, and 5, 10, 15, 20, 25 min. RESULTS: Each group included 30 ED patients with similar clinical characteristics. After pooling the results together, the PSV, EDV, and RI were all improved significantly, when adding the oral sildenafil administration to assist PDU. Also, the clinical response of oral sildenafil administration plus alprostadil injection was better than that in alprostadil injection alone (p = 0.016). The arterial ED were decreased from 31.67% to 15.00% with the P value 0.031, and the mixed ED was also decreased statistically (23.33% vs 8.33%, p = 0.024). CONCLUSION: Oral sildenafil administration plus alprostadil injection could improve the diagnostic accuracy of PDU.
Subject(s)
Erectile Dysfunction , Penile Erection , Male , Humans , Sildenafil Citrate/pharmacology , Penile Erection/physiology , Alprostadil , Erectile Dysfunction/drug therapy , Erectile Dysfunction/diagnosis , Prospective Studies , Penis/diagnostic imaging , Ultrasonography, DopplerSubject(s)
Urethral Neoplasms , Urinary Bladder , Male , Humans , Urethral Neoplasms/diagnosis , Urethral Neoplasms/therapy , Penis/surgery , Urethra , PelvisABSTRACT
BACKGROUND: To compare the outcomes of hypospadias repair using tubularized incised plate (TIP) urethroplasty and modified TIP with lateral skin to widen the urethral plate (WTIP). MATERIALS AND METHODS: Data were obtained from pre-pubertal boys who underwent primary hypospadias repair between May 2018 and July 2023. The cases were divided into two groups; one group underwent TIP with urethral plate ≥ 6 mm width and the other group with urethral plate width < 6 mm underwent WTIP. WTIP urethroplasty was performed by widening incisions on the outer margins of the urethral plate to incorporate penile and glandular skin lateral to the urethral plate to facilitate tubularization. Complication rates and urinary functions were compared. RESULTS: A total of 157 patients were enrolled in this study. Eighty-eight cases with narrow urethral plate were subjected to WTIP urethroplasty, and the rest were subjected to TIP urethroplasty. The preoperative glans width in WTIP group was less than that in TIP group (P < 0.001), and 44.3% had midshaft meatus in WTIP group compared to 17.4% in TIP group (P < 0.001). However, the incidences of postoperative complications (17.6% vs. 21.6%, P = 0.550) were not statistically different between the TIP and WTIP groups. In addition, both groups did not differ significantly in postoperative uroflowmetry assessment. CONCLUSIONS: The described technique helps to create an adequately caliber aesthetic neomeatus and facilitates tubularization, especially in hypospadias with a narrow urethral plate. Our data suggest that augmentation of a narrow urethral plate with WTIP has a similar surgical outcome to that of the TIP procedure in patients with a wide urethral plate.
Subject(s)
Hypospadias , Plastic Surgery Procedures , Male , Humans , Hypospadias/surgery , Penis/surgery , Skin , Esthetics , Cytoskeletal Proteins , Co-Repressor ProteinsABSTRACT
BACKGROUND: Fasciitis ossificans is a rare subtype of nodular fasciitis, a benign soft tissue tumor with reactive characteristics. Due to its rapid growth, it is often misdiagnosed as a malignant tumor. While fasciitis ossificans commonly originates from the subcutaneous tissue and can appear throughout the body, it may also arise from extraordinary sites. CASE PRESENTATION: We report the first-ever documented case of fasciitis ossificans arising from the penis in a male patient who presented with a tumor on the glans penis. The tumor was surgically resected due to suspicion of penile cancer. Initial histopathological analysis led to a misdiagnosis of squamous cell carcinoma. However, pathological consultation ultimately confirmed the diagnosis of fasciitis ossificans of the penis originating from the glans penis by demonstrating ossification. CONCLUSION: This case underscores the importance of considering fasciitis ossificans in the differential diagnosis of soft tissue tumors, even in unusual locations such as penile soft tissue.
Subject(s)
Fasciitis , Ossification, Heterotopic , Penile Neoplasms , Humans , Male , Ossification, Heterotopic/diagnosis , Pelvis/pathology , Diagnosis, Differential , Fasciitis/diagnosis , Fasciitis/surgery , Fasciitis/pathology , Penis/pathology , Penile Neoplasms/diagnosis , Penile Neoplasms/surgeryABSTRACT
PURPOSE: About 10% of Peyronie's patients are complex cases with severe curvature (>60 degrees), ventral plaque, multiplanar curvature, hour-glass/hinge deformity, notching deformity, and ossified plaque. In patients with complex Peyronie's disease (PD), different techniques (shortening procedures, lengthening procedures, and penile prosthesis implantation (IPP)) may be necessary to achieve successful result. This review aims to analyze the various surgical techniques employed in the management of Peyronie's disease, with a specific focus on patients with complex deformity. METHODS: Articles focusing on the surgical management of complex curvature in Peyronie's disease were searched in MEDLINE and PubMed published between 1990 and 2023. RESULTS: Shortening procedures are linked to penile shortening and are not recommended for complex cases such as notching, hour-glass deformity, or ossified plaque. Lengthening procedures are suitable for addressing complex curvatures without erectile dysfunction (ED) and are a more appropriate method for multiplanar curvatures. Penile prosthesis implantation (IPP), with or without additional procedures, is the gold standard for patients with ED and Peyronie's disease. IPP should also be the preferred option for cases of penile instability (hinge deformity) and has shown high satisfaction rates in all complex cases. CONCLUSION: While surgical interventions for complex curvature in Peyronie's disease carry inherent risks, careful patient selection, meticulous surgical techniques, and post-operative care can help minimize complications and maximize positive outcome.
Subject(s)
Penile Implantation , Penile Induration , Urologic Surgical Procedures, Male , Humans , Penile Induration/surgery , Male , Urologic Surgical Procedures, Male/methods , Penile Implantation/methods , Penis/surgery , Penile ProsthesisABSTRACT
Metastasis to the penis from renal cell carcinoma (RCC) or any other primary cancer site is unusual; when it does occur, it often involves multiple organs. A 75-year-old man presented with penile pain and swelling. Three months earlier, he had open radical nephrectomy with thrombectomy and was diagnosed with clear-cell RCC with tumor thrombosis in the inferior vena cava. The follow-up imaging indicated metastasis to the penis, prompting a total penectomy due to worsening pain. The excised mass displayed features consistent with metastatic RCC. This case underscores the need to consider rare metastatic sites, such as the metastasis of RCC to the penis, in RCC patients.
Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Penile Neoplasms , Humans , Male , Carcinoma, Renal Cell/secondary , Carcinoma, Renal Cell/surgery , Aged , Penile Neoplasms/secondary , Penile Neoplasms/pathology , Kidney Neoplasms/pathology , Nephrectomy , Neoplasm Metastasis , Penis/pathology , Penis/surgeryABSTRACT
PURPOSE: Evaluation of preliminary cosmetic and functional outcomes of biodegradable scaffolds covered with platelet-rich plasma in penile girth augmentation. MATERIALS AND METHODS: Between June 2016 and June 2018, 36 males who had a mean age of 28.91 years (range 20 - 48 years) with micropenis underwent this procedure. A mixture of platelets-fibrin glue and mesenchymal cells obtained from dermal fat tissue were prepared. Then the mixture was seeded on the pretreated tube-shaped poly lactic-co-glycolic acid scaffold and underwent a whole day of incubation. Following penile degloving, scaffolds were surgically implanted within the interface region of dartos and Buck's fascia. The 5-point Likert scoring scale was used to evaluate the patients' satisfaction with surgery. RESULTS: Patients followed up for 6-12 (8 ± 2.86) months. The penile length in an erected state before surgery was 6.5 - 12.5 cm (9.08 ± 1.6) which enhanced to 7 - 14 cm (10.59 ± 1.71) after surgery (P < .0001). The penile girth before and after surgery were 8.49 ± 1.53 and 10.91 ± 1.96 cm, respectively (P < .0001). An augment in penile length and girth of 1.5 and 2.6 cm were achieved, respectively. Patients appraised surgical intervention on a rating of one to five. The highest possible score (5) was assigned by 27 %, 33 % expressed a very good mark (4), and 19 % gave a good mark (3). CONCLUSION: Covering the scaffold with a mixture of Platelets-Fibrin glue and mesenchymal cells seems a safe and feasible method for penile reconstruction surgery. More studies should be done to determine the effect of platelets- fibrin glue and mesenchymal cells for treating micropenis.
Subject(s)
Fibrin Tissue Adhesive , Genital Diseases, Male , Mesenchymal Stem Cells , Penis/abnormalities , Male , Humans , Young Adult , Adult , Middle Aged , Penis/surgery , Patient SatisfactionABSTRACT
A clinical case of a penile fracture as a result of an unsuccessful sexual intercourse, which later required surgical treatment in the form of corporoplasty with opening and draining of the hematoma, is discussed in the article. Penile fracture is a rare urological emergency that requires immediate medical attention to avoid long-term complications, including penile curvature and erectile dysfunction.
Subject(s)
Penis , Humans , Male , Penis/injuries , Penis/surgery , Rupture/surgery , Adult , Coitus , Hematoma/surgery , Hematoma/etiology , Hematoma/diagnostic imaging , Penile Diseases/surgery , Penile Diseases/etiologyABSTRACT
In this paper, we present our experience with acute and chronic penile ulcers resulting from injection of an exogenous substance and their surgical treatment.
Subject(s)
Penile Diseases , Plastic Surgery Procedures , Skin Diseases , Male , Humans , Ulcer/etiology , Ulcer/surgery , Penis/surgery , Penile Diseases/etiology , Penile Diseases/surgery , Skin Transplantation/methods , Skin Diseases/surgery , Treatment OutcomeABSTRACT
Plentiful studies have clarified miRNAs take on a key role in the sexual dysfunction of diabetic rats. This study aimed to figure out microRNA (miR)-503-5p/SYDE2 axis' latent mechanisms in streptozotocin-induced diabetic rat sexual dysfunction. A model of erectile dysfunction (ED) in diabetic rats was established by injecting streptozotocin. MiR-503-5p and SYDE2 in ED rats were altered by injection of miR-503-5p mimic or si/oe-SYDE2. The targeting link between miR-503-5p and SYDE2 was testified. ICP/MAP value was tested by pressure sensor; Penile capillary abundance was assessed; Penile cGMP and AGEs were detected; penile smooth muscle cell apoptosis was assessed; MiR-503-5p and SYDE2 were tested. In streptozotocin-induced ED rats, miR-503-5p was reduced and SYDE2 was elevated. Elevating miR-503-5p or silencing of SYDE2 can enhance penile erection rate, ICP/MAP value, capillary abundance, and cGMP but reduce AGEs and penile smooth muscle cell apoptosis rate in ED rats. Strengthening SYDE2 with elevating miR-503-5p turned around the accelerating effect of elevated miR-503-5p on penile erection in ED rats. SYDE2 was a downstream target gene of miR-503-5p. MiR-503-5p protects streptozotocin-induced sexual dysfunction in diabetic rats by targeting SYDE2.
Subject(s)
Apoptosis , Diabetes Mellitus, Experimental , Down-Regulation , Erectile Dysfunction , MicroRNAs , Penis , Rats, Sprague-Dawley , Animals , Male , MicroRNAs/genetics , MicroRNAs/metabolism , Erectile Dysfunction/genetics , Erectile Dysfunction/etiology , Diabetes Mellitus, Experimental/complications , Diabetes Mellitus, Experimental/genetics , Apoptosis/genetics , Down-Regulation/genetics , Penis/pathology , Streptozocin , Penile Erection , Rats , Cyclic GMP/metabolism , Intracellular Signaling Peptides and Proteins/genetics , Intracellular Signaling Peptides and Proteins/metabolism , Myocytes, Smooth Muscle/metabolism , Glycation End Products, Advanced/metabolismABSTRACT
BACKGROUND: Although some male patients with congenital hypogonadotropic hypogonadism (CHH) undergo spontaneous reversal following treatment, predictors of reversal remain elusive. We aimed to assemble the largest cohort of male patients with CHH reversal to date and identify distinct classes of reversal. METHODS: This multicentre cross-sectional study was conducted in six international CHH referral centres in Brazil, Finland, France, Italy, the UK, and the USA. Adult men with CHH (ie, absent or incomplete spontaneous puberty by age 18 years, low serum testosterone concentrations, and no identifiable cause of hypothalamic-pituitary-gonadal [HPG] axis dysfunction) were eligible for inclusion. CHH reversal was defined as spontaneous recovery of HPG axis function off treatment. Centres provided common data elements on patient phenotype, clinical assessment, and genetics using a structured, harmonised data collection form developed by COST Action BM1105. Latent class mixture modelling (LCMM) was applied to establish whether at least two distinct classes of reversal could be identified and differentially predicted, and results were compared with a cohort of patients without CHH reversal to identify potential predictors of reversal. The primary outcome was the presence of at least two distinct classes of reversal. FINDINGS: A total of 87 male patients with CHH reversal and 108 without CHH reversal were included in the analyses. LCMM identified two distinct reversal classes (75 [86%] in class 1 and 12 [14%] in class 2) on the basis of mean testicular volume, micropenis, and serum follicle-stimulating hormone (FSH) concentration. Classification probabilities were robust (0·998 for class 1 and 0·838 for class 2) and modelling uncertainty was low (entropy 0·90). Compared with class 1, patients in class 2 had significantly larger testicular volume (p<0·0001), no micropenis, and higher serum FSH concentrations (p=0·041), consistent with the Pasqualini syndrome (fertile eunuch) subtype of CHH. Patients without CHH reversal were more likely to have anosmia (p=0·016), cryptorchidism (p=0·0012), complete absence of puberty (testicular volume <4 cm³; p=0·0016), and two or more rare genetic variants (ie, oligogenicity; p=0·0001). Among patients who underwent genetic testing, no patients (of 75) with CHH reversal had a rare pathogenic ANOS1 variant compared with ten (11%) of 95 patients without CHH reversal. Individuals with CHH reversal had a significantly higher rate of rare variants in GNRHR than did those without reversal (nine [12%] of 75 vs three [3%] of 95; p=0·025). INTERPRETATION: Applying LCMM to a large cohort of male patients with CHH reversal uncovered two distinct classes of reversal. Genetic investigation combined with careful clinical phenotyping could help surveillance of reversal after withdrawing treatment, representing the first tailored management approach for male patients with this rare endocrine disorder. FUNDING: National Institutes of Health National Center for Advancing Translational Sciences; Ministry of Health, Rome, Italy; Ministry of University, Rome, Italy; National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development; and the Josiah Macy Jr Foundation. TRANSLATION: For the Italian translation of the abstract see Supplementary Materials section.
Subject(s)
Genital Diseases, Male , Hypogonadism , Penis/abnormalities , United States , Child , Adult , Humans , Male , Adolescent , Cross-Sectional Studies , Hypogonadism/genetics , Hypogonadism/drug therapy , Follicle Stimulating Hormone/therapeutic useABSTRACT
BACKGROUND: Limited research has been conducted regarding the elucidation of genotype-phenotype correlations within the 20q13.33 region. The genotype-phenotype association of 20q13.33 microdeletion remains inadequately understood. In the present study, two novel cases of 20q13.33 microdeletion were introduced, with the objective of enhancing understanding of the genotype-phenotype relationship. METHODS: Two unrelated patients with various abnormal clinical phenotypes from Fujian province Southeast China were enrolled in the present study. Karyotype analysis and chromosomal microarray analysis (CMA) were performed to investigate chromosomal abnormalities and copy number variants. RESULTS: The results of high-resolution G-banding karyotype analysis elicited a 46,XY,der(20)add(20)(q13.3) in Patient 1. This patient exhibited various clinical manifestations, such as global developmental delay, intellectual disability, seizures, and other congenital diseases. Subsequently, a 1.0-Mb deletion was identified in the 20q13.33 region alongside a 5.2-Mb duplication in the 14q32.31q32.33 region. In Patient 2, CMA results revealed a 1.8-Mb deletion in the 20q13.33 region with a 4.8-Mb duplication of 17q25.3. The patient exhibited additional abnormal clinical features, including micropenis, congenital heart disease, and a distinctive crying pattern characterized by a crooked mouth. CONCLUSION: In the present study, for the first time, an investigation was conducted into two novel cases of 20q13.33 microdeletion with microduplications in the 17q25.3 and 14q32.31q32.33 regions in the Chinese population. The presence of micropenis may be attributed to the 20q13.33 microdeletion, potentially expanding the phenotypic spectrum associated with this deletion.