Prepubertal Patient Research Articles

Ovarian Tissue Vitrification as a Method for Ovarian Preservation in Women with Cancer: an Analysis of Granulose Cell Apoptosis

Objective: To obtain the effective method of ovarian function preservation
 with granulose cell apoptosis assessment. Ovarian tissue
 vitrification became a method for ovarian function preservation in
 women with cancer. This technique can be done anytime without
 delay on cancer therapy both in prepubertal and unmarried patient.
 It can also store many primordial follicles. Ovarian tissue vitrification
 study is still limited to animal test and there are no data about apoptosis
 assessment after ovarian vitrification in human ovary.
 Method: This quasi experimental study was held in Department of
 Obstetrics and Gynecology Faculty of Medicine University of Indonesia
 - Dr. Cipto Mangunkusumo General Hospital and Fatmawati
 Hospital Jakarta from March 2012 to May 2015. Ovaries from thirteen
 women between 31 and 37 years old who underwent oophorectomy
 with gynecological indication were examined.
 Result: There was no morphological difference between follicles
 from fresh and warmed-vitrified ovaries. The mean protein Bax
 expression on the fresh ovaries assessed in the form of H-score
 was 1.66 (SD 0.14) compared with 1.68 (SD 0.13) on the warmedvitrified
 group (p=0.165). The mean protein Bcl-2 expression on the
 fresh ovaries examined in the form of H-score was 1.73 (SD 0.10)
 compared with 1.71 (SD 0.10) on the warmed-vitrified group
 (p=0.068).
 Conclusion: Ovarian tissue vitrification does not affect the Bax and
 Bcl-2 expression on human ovary.
 [Indones J Obstet Gynecol 2016; 4-2: 88-92]
 Keywords: apoptosis, bax, Bcl-2, ovarian tissue vitrification

Ovarian Tissue Vitrification as a Method for Ovarian Preservation in Women with Cancer: an Analysis of Granulose Cell Apoptosis

<p class="ParaAttribute48">The aim of this study was to obtain the effective method of ovarian function preservation with granulose cell apoptosis assessment. Ovarian tissue vitrification became a method for ovarian function preservation in women with cancer. This technique can be done anytime without delay on cancer therapy, in prepubertal and unmarried patient. It also can store many primordial follicles. Ovarian tissue vitrification study is still limited to animal test and there was no data about apoptosis assessment after ovarian vitrification in human ovary. This is a quasi experimental study which was held in Department of Obstetrics and Gynecology Faculty of Medicine Universitas Indonesia - Dr. Cipto Mangunkusumo General Hospital and Fatmawati Hospital Jakarta from March 2012 to May 2015. Ovaries from thirteen women between 31-37 years of age who underwent oophorectomy with gynecological indication were examined. There were no difference morphologically between follicles from fresh and warmed-vitrified ovaries. The mean protein Bax expression on the fresh ovaries which assessed in the form of H-score was 1,66 ± 0,14 compared to 1,68 ± 0,13 on the warmed-vitrified grup (p = 0,165). The mean protein Bcl-2 expression on the fresh ovaries which assessed in the form of H-score was 1,73 ± 0,10 compared to 1,71 ± 0,10 on the warmed-vitrified grup (p = 0,068). As a conclusion, it was shown that vitrification did not affect Bax and Bcl-2 expression on human ovary.</p>

Pathological features and clinical associations of 58 small incidental angiomyolipomas of the kidney

Although angiomyolipoma (AML) of the kidney is a well-described and broadly studied neoplasm, little is known about clinical and morphological features of small incidental tumors occurring sporadically. Sections from 58 small AMLs found in 37 patients from 402 consecutive unselected autopsies were studied. A female predominance and a bimodal age distribution (30-50 and >70 years) were observed. No AML was found in a prepubertal patient. Six patients had multiple and bilateral AMLs (2-8 tumors per patient). Overall, the tumors ranged in size from 0.1 to 10 mm (mean=1.5 mm) and were variably composed of smooth muscle and fat. Abnormal blood vessels were seen in only 4 tumors (7%). Most AMLs were located just beneath the renal capsule or at the corticomedullary junction. Pure leiomyoma-like (25 tumors) and lipoma-like (1 tumor) AMLs were found in patients younger than those with AMLs consisting of a mixture of components (P=.03). AMLs located in the subcapsular and cortical parenchyma were mainly composed of smooth muscle (P=.004), whereas fat predominated in AMLs in the medulla and corticomedullary junction (P=.004). No correlation between morphology and size was found. In summary, this study demonstrates that 9% of an unselected population had AMLs. Their frequent location just beneath the capsule and in the corticomedullary junction suggests that these areas might promote their development. Finally, the proportions of smooth muscle and fat appear to be associated with their location in the renal parenchyma and with the patients' ages.

The Relationship of Metabolic Syndrome and Body Composition in Children with Premature Adrenarche: Is It Age Related?

Background: Studies that evaluate both body composition and metabolic syndrome (MeS) risk in prepubertal children with premature adrenarche (PA) are limited. Methods: Fifty-eight prepubertal children (aged 5-9 years, 33 female and 25 male), 30 with PA and 28 controls, were evaluated for the presence of MeS as defined by age-modified National Cholesterol Education Program Adult Treatment Panel III criteria. A subset had dual-energy X-ray absorptiometry and bone markers (n = 23/58) to evaluate the effect of hyperandrogenism on metabolic abnormalities and body composition. Results: There was no difference in the prevalence of MeS between PA and controls (p = 0.138). Children with MeS were obese with an increased waist circumference (WC) and decreased high-density lipoprotein levels. Androgens were not associated with having more than one criterion for MeS (p = 0.08) but were associated with triglycerides and WC (p = 0.029 and p = 0.041, respectively). Lean mass was greater in PA subjects (p = 0.039), and androgens correlated with bone mineral density (p = 0.029) and total body fat (p = 0.008). Subjects with a higher percent of body fat were more likely to have more than one MeS risk factor (p = 0.005). Conclusions: MeS was seen only in obese subjects whether or not they had PA. Thus, it appears that obesity drives metabolic risk in the prepubertal population rather than PA. Our findings are important in determining how the prepubertal patient with PA should be evaluated for metabolic risk.

V7-14 ROBOT-ASSISTED LAPAROSCOPIC NEPHROURETERECTOMY IN A 9-YEAR-OLD GIRL WITH OBSTRUCTED HEMIVAGINA IPISILATERAL RENAL ANOMALY

You have accessJournal of UrologyPediatrics1 Apr 2015V7-14 ROBOT-ASSISTED LAPAROSCOPIC NEPHROURETERECTOMY IN A 9-YEAR-OLD GIRL WITH OBSTRUCTED HEMIVAGINA IPISILATERAL RENAL ANOMALY Amanda Saltzman and Christopher Roth Amanda SaltzmanAmanda Saltzman More articles by this author and Christopher RothChristopher Roth More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2015.02.1945AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Obstructed hemivagina ipsilateral renal anomaly (OHVIRA) is a rare Mullerian duct abnormality with renal manifestations (renal agenesis, hypoplasia, ectopic ureter, multicystic dysplastic kidney). Classically, this presents after menarche with abdominal pain, but because of its rarity, diagnosis is often delayed. There have been less than 20 reported cases of prepubertal OHVIRA, with most involving neonates. In the infant female, diagnosis can sometimes be made with unilateral renal agenesis on prenatal ultrasound and vaginal bulge after birth. Rarely do girls present between the newborn and pubertal period. There are no definitive guidelines for treatment of prepubertal girls with OHVIRA. METHODS We present a case of OHVIRA diagnosis and management in a 9-year-old girl, which came to light via continuous incontinence that developed after incorrect diagnosis and treatment for imperforate hymen. RESULTS A 9-year-old female presented to an outside emergency room with abdominal pain. Abdominal ultrasound showed hydrocolpos and an absent left kidney. The working diagnosis was imperforate hymen with blockage of menses and she underwent “hymenotomy”. Since this procedure, she has had continuous vaginal leakage. Genitourinary exam showed Tanner 1 genitalia, pooling of fluid within the vagina, a circumferentially intact hymenal ring and a deeper area of tissue within the vagina that had previously been incised. There were no abdominal masses and the urethra was normal. Cross sectional imaging revealed uterus didelphys, a normal right kidney and a small left pelvic kidney that took up and excreted contrast into a hydronephrotic left ureter. We took the patient to the operating room with a presumptive diagnosis of OHVIRA with a left atrophic kidney with a presumed ectopic ureter into the left hemivagina that had been incised. We explored the pelvis robotically and identified the dilated left ureter within the pelvis with insertion into the left vagina. Proximally, there was an atrophic pelvic kidney with a series on anomalous vessels. We performed a left nephroureterectomy. The distal ureter was amputated at its entry point into the vagina. The patient recovered uneventfully and went home on post-operative day 1. She was immediately dry after the procedure. CONCLUSIONS OHVIRA is a rare diagnosis that requires a high index of suspicion. When presented with a prepubertal patient with renal abnormalities and a pelvic mass careful work up is important prior to surgical intervention to ensure accurate diagnosis and treatment in the same setting. © 2015 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 193Issue 4SApril 2015Page: e663 Advertisement Copyright & Permissions© 2015 by American Urological Association Education and Research, Inc.MetricsAuthor Information Amanda Saltzman More articles by this author Christopher Roth More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...

Clinical Recommendation: Pediatric Lichen Sclerosus

Lichen sclerosus is a chronic inflammatory condition affecting the anogenital region that may present in the prepubertal or adolescent patient. Clinical presentations include significant pruritus, labial adhesions, and loss of pigmentation. Treatment includes topical anti-inflammatory agents and long-term follow-up as there is a high risk of recurrence and an increased risk of vulvar cancer in adult women with history of lichen sclerosus. These recommendations are intended for pediatricians, gynecologists, nurse practitioners and others who care for pediatric/adolescent girls in order to facilitate diagnosis and treatment.

Sonography of Female Genital Hernias Presenting as Labia Majora Masses

Inguinal herniation of the ovary or uterus presenting as a labia majora mass is a rare congenital condition that may be complicated by strangulation, torsion, and infertility. A labial mass in a prepubertal female patient can represent an inguinal hernia, a hydrocele of the canal of Nuck, a congenital labial cyst, leiomyoma, an abscess, lipoma, or lymphangioma. With a large differential diagnosis and an often limited physical examination, imaging plays an importance diagnostic role. We present 3 cases in which a labial mass contained an ovary alone and both ovaries and the uterus. We demonstrate sonographic findings and discuss the utility of sonography in the diagnosis of genital hernias and in detecting potential complications.

Fertility preservation of pre-pubertal cancer patient boys before aggressive chemotherapy. peliminary results from in vitro cultue of fresh testicular tissue from three pre-pubertal patients

To evaluate the possibility of inducing growth, proliferation and differentiation of testicular germ cells form prepubertal cancer patients (PBCP) in a novel three-dimensional Methylcellulose- Culture System (MCS).

Fertility preservation strategies for male patients with cancer

With the increasing number of patients surviving cancer, there is increasing interest in long-term quality of life, especially with respect to cancer-related infertility. Although infertility most commonly occurs as the result of treatment with gonadotoxic agents, it can also manifest before treatment has commenced. Current fertility preservation strategies for the postpubertal male patient with cancer focus on sperm cryopreservation before therapy. Sperm acquisition techniques should be discussed with the patient as early as possible, by either an oncologist or a specialist in male reproduction. For patients rendered infertile by cancer treatment who did not cryopreserve sperm beforehand, there are no techniques currently available to restore fertility. For the prepubertal male patient, cryopreservation of sperm is impossible. However, emerging research--primarily in animal models--into promising fertility preservation and restoration strategies might provide a clinical solution in the future. Advances in the protection and cryopreservation of spermatogonial stem cells (SSCs) might translate into clinical options for fertility preservation before treatment. Restoring fertility after treatment might also be possible via SSC autotransplantation or in vitro maturation of SSCs. Before any of these techniques become clinically viable, a number of scientific, logistical and ethical issues will need to be resolved.

AB1184 Effects of infliximab treatment on growth in children with juvenile idiopathic arthritis (JIA)

BackgroundInfliximab (a human murine chimeric anti-tumour necrosis factor alpha monoclonal antibody) is known to decrease disease activity of juvenile idiopathic arthritis (JIA) but its effect on longitudinal growth in relation...

“Habitual Adnexal Torsions”—Recurrence after Two Oophoropexies in a Prepubertal Girl: A Case Report and Review of the Literature

BackgroundRecurrent adnexal torsion rarely affects girls. Various surgical techniques for its prevention are available. We describe a case of recurrent asynchronous bilateral torsions in a prepubertal patient. CaseAn 8-year-old girl first presented with a right adnexal torsion and underwent a laparoscopic untwisting. During the following 3 years, 4 additional laparoscopies were required for treatment of left adnexal torsions. Although undergoing bilateral utero-ovarian ligament plication twice, torsion recurred. After examining the various options, we fixated the left ovary to the sidewall just below the pelvic brim. Summary and ConclusionIn the absence of clear evidence, treatment should be flexible and dependent on the individual case. Thorough patient education is imperative in order to prevent a delay in diagnosis and treatment of recurrent adnexal torsion.

Dysgerminoma and gonadal dysgenesis: The need for a new diagnosis tree for suspected ovarian tumours

Purpose Diagnosis of dysgerminoma in the paediatric age group is uncommon, and most cases arise from dysgenetic gonads of 46, XY pure gonadal dysgenesis (PGD) patients. Bilateral gonadectomy is mandatory in these patients. So, the preoperative diagnosis of PGD is important in order to avoid multiple surgical procedures and delayed patient information in the case of a suspected ‘ovarian’ tumour. Our aim was to discuss preoperative clues that can lead to suspicion of dysgerminoma in the context of PGD. Materials and methods We reviewed the charts of six patients treated for dysgerminoma associated with 46, XY PGD. We focused on particularities of clinical and biological evaluations. Results Median age at diagnosis was 11 years. Pubertal development was absent or incomplete even at late ages. Dysgerminoma was associated with gonadoblastoma foci in all cases. Tumoral marker profile was a normal alfafetoprotein level, a high lactate dehydrogenase level and normal or moderate human chorionic gonadotropin (βHCG) secretion, except for one patient who had a mixed tumour with notably a choriocarcinoma share (high βHCG). Follicle-stimulating hormone (FSH) level was very high in all patients tested and, interestingly, also in one prepubertal patient. Conclusions In the case of a suspected ovarian tumour, delayed pubertal development, moderate βHCG level and elevated FSH level are clinical and biological clues to a diagnosis of dysgerminoma in the context of PGD and should prompt karyotype analysis before surgery. Because FSH is an efficient indirect marker of this condition, we suggest including this analysis in the management of gonadal tumours.

Bilobar agenesis of thyroid gland with colloidal change of the isthmus and subclinical hypothyroidism: A case report

Abstract Congenital thyroid abnormalities mostly include unilateral lobar agenesis, with or without involving the isthmus. Here we present only the third case of bilobar thyroid agenesis with residual isthmus as the only functioning thyroid tissue, and the first such case in a pre-pubertal male patient presenting early with a colloid goiter, with features of subclinical hypothyroidism as was evident from his biochemical profile. Subsequent CT scan, followed by radionucleotide scanning revealed hypertrophied isthmus, with empty paratracheal fossae, suggesting the diagnosis as bilobar thyroid agenesis. The child was managed conservatively with thyroxin with encouraging results.

Paediatric vaginal discharge

Vaginal discharge in the prepubertal patient is a common symptom, and can be a source of distress for the caregiver and concern for the healthcare worker. Several factors predispose these patients to the development of recurrent vaginal discharge. Unless noticed by the caregiver, this problem can persist for long periods of time.Making a diagnosis in the prepubertal patient requires physician skills different from those required for diagnosis in the adult population. The history may often be difficult to obtain, and at times inaccurate or inconsistent. Common anatomical variants have to be considered during examination. Sexual abuse of children continues to be a serious problem in our society. Vaginal discharge is often the only presenting symptom. A high index of suspicion is required in order to make a diagnosis. Common causes of vaginal discharge in this group of patients will be looked at. Physical examination techniques and treatment of specific causes will not be discussed here.

High TGFβ1, Estrogen Receptor, and Aromatase Gene Expression in a Large Cell Calcifying Sertoli Cell Tumor (LCCSCT): Implications for the Mechanism of Oncogenesis

Large cell calcifying Sertoli cell tumors (LCCSCT) are associated with Carney complex and Peutz-Jeghers syndrome. The mechanisms linking these 2 genetic defects to the genesis of this tumor are obscure. Studies of CYP19 (aromatase) and transforming growth factor (TGF)-beta1 messenger RNA (mRNA) abundance, estrogen receptor (ER), TGFbeta1, and TGFbeta type II receptor (R) immunochemistry were carried out in the testis of a patient with this tumor to gain information on possible mechanisms of cell tumor development. Testicular tissue of a prepubertal patient, collected at gonadectomy, was separated into 2 macroscopically distinct fractions: tumoral nodules (Tu) and extratumoral, normal-looking testicular tissue (ExTu). The patient was a 9.5-year-old boy with a 5-year history of bilateral gynecomastia (Tanner stage 4), no pubic hair, incipient genital development, and bilateral testicular nodules. Multiple pigmented lesions of the skin were present. Bilateral mammectomy and gonadectomy was performed. RNA was extracted from Tu and ExTu for semiquantitative reverse transcriptase-polymerase chain reaction of CYP19 and TGFbeta1. Protein expression of ER, TGFbeta1, and TGFbeta type II R in Tu and ExTu was detected by immunohistochemistry. Cell proliferation was estimated by Ki-67 antigen immunochemistry and apoptosis using a modified TUNEL assay. Mean expression of aromatase and TGFbeta1 mRNAs in Tu was 6- and 2.3-fold higher than in ExTu, respectively (P<0.05). Tumoral cells exhibited ER staining with a predominant extranuclear localization. Positive staining of Sertoli cells in Tu was higher than in ExTu. TGFbeta1 immunostaining of the interstitial cells in Tu was higher than in ExTu. TGFbeta type II R immunostaining was detected in most Sertoli and interstitial cells, but intensity in ExTu was lower than in Tu. No significant difference was detected in the proliferation index, but in Tu, the percentage of Sertoli cells in apoptosis (1.4%) was significantly lower (P<0.01) than in ExTu (14.0%). The following hypothesis is proposed. The congenital gene defects of Carney complex or of Peutz-Jeghers syndrome might trigger a cascade of intracellular events that leads to overexpression of aromatase in Sertoli cells, favoring the development of a LCCSCT. At some point in the evolution of the disease, a mutational event might induce a higher expression of the ER. Also, TGFbeta1 protein expression is increased in neighboring cells. In this environment, TGFbeta1 might switch from tumor suppressor to oncogenic factor and, along with estrogen-ER complexes, might favor tumor progression by inhibiting apoptosis.

Anorexia nervosa and obsessive-compulsive disorder in a prepubertal patient with bone dysplasia: A case report

The current article describes the case of a 13-year-old girl with body dysplasia, anorexia nervosa, and obsessive-compulsive disorder (OCD). She was given cognitive-behavioral therapy and pharmacologic treatment for the obsessive-compulsive symptomatology and exogenous growth hormone to increase her height. She experienced an adequate weight and height increase and remission of obsessive-compulsive symptomatology, and reestablished adequate social and academic functioning. After a follow-up of almost 2 years, she had had her menarche, continued her positive eating habits, and had not relapsed into OCD.

VULVOVAGINITIS BACTERIANA EN LA PREPÚBER

SUMMARY Having into account the high frequency of vulvovaginitis in the pediatric and adolescent gynecology setting and the unique aspects of the microbiology and endocrinology of the pre pubertal patient, we present a review of the most relevant aspects in the last 5 years, concerning epidemiology, etiology, diagnosis and treatment of specific bacterial vulvovaginitis in the pre pubertal girl. There’s no consensus regarding the normal vaginal microflora, which makes difficult the interpretation of swabs. According to actual evidence we could say that in approaching prepubertal vulvovaginitis we must consider as main etiologic agents: respiratory, enteric and epidermic pathogens; deficient hygiene, foreign bodies, irritants, vulvar dermatologic diseases, anatomical abnormalities and sexual abuse. Group A - hemolytic Streptococcus and Haemophilus influenzae are prevalent pathogens.

Microsurgical latissimus dorsi flap in a case of breast aplasia caused by radiation therapy

The use of ionizing radiation in the breast region while a patient is at developmental age is still responsible for most monolateral hypoplasias and iatrogenic-based breast asymmetries. These alterations often involve several anatomical structures, thus causing severe hypoplasia of the breast and muscle tissues and stiffness of soft tissues, with atrophic and cicatricial skin. Reconstruction methods vary from case to case, but most of the time reconstruction with a homolateral latissimus dorsi with or without a breast implant seems most suitable. In some cases, however, this is not a viable alternative due to particular general and local conditions, making it necessary to consider other solutions. We present the case of a young prepubertal patient who came under our observation due to a radiotherapy outcome in the right breast and thoracic region; she had been previously subjected to breast reconstruction elsewhere, with the fitting of a subcutaneous prosthesis. Due to the patient's particular general and local conditions and the pathological involvement of the homolateral thoracic musculature, to improve the clinical picture, we deemed it appropriate to use the microsurgical reinnervated contralateral latissimus dorsi muscle, which so far has enabled us to obtain considerable and lasting results.

Abnormal steroidogenesis in three patients with Antley–Bixler syndrome: Apparent decreased activity of 17α‐hydroxylase, 17,20‐lyase and 21‐hydroxylase

Antley-Bixler syndrome (ABS) is characterized mainly by abnormal skeletal morphogenesis such as craniosynostosis and radiohumeral synostosis, and by ambiguous genitalia in some cases. The mechanisms resulting in these deformities have not been determined. The adrenal and gonadal function of three Japanese ABS patients were evaluated. Patient 1 (17-year-old-male) had bilateral cryptoorchidism, delayed puberty and symptoms of glucocorticoid deficiency. Patient 2 (14-year-old male) and patient 3 (4-year-old female) presented with emaciation. Additionally, patient 3 had partial labial fusion and common urogenital sinus. In each patient, blood sampling for steroid analysis before and after rapid adrenocorticotropic hormone (ACTH) stimulation was carried out. Additionally, urinary steroids were quantified. Molecular analysis of CYP17 and CYP21A2 were also performed. All patients showed elevated basal 17alpha-deoxysteroid levels. Although the 17alpha-deoxysteroid levels further increased after rapid ACTH stimulation, 17alpha-hydroxysteroids including cortisol did not respond, suggesting impaired 17alpha-hydroxylation. Patient 1 and patient 2 showed low adrenal androgen blood levels both before and after rapid ACTH stimulation. Patient 3 showed lower than normal excretions of urinary androgens. Additionally, a prolonged ACTH stimulation in patient 3 failed to elicit significant increase of adrenal androgens. These findings suggested impaired 17,20-lyase activity. In contrast to attenuated 17alpha-hydroxycorticosteroids, notably cortisol, elevated 17alpha-hydroxyprogesterone (17OHP) levels were observed, not only in pubertal patients (1 and 2) but also in prepubertal patient 3, indicating impaired 21-hydroxylation. This assumption was supported by increased urinary 21-deoxycortisol metabolite excretion in patients 2 and 3. With the exception of a heterozygous mutation of CYP17 in one of the patients, other mutations of this gene or CYP21A2 were identified in any of the patients. Combined decreased 17alpha-hydroxylation, 17,20-lyase activity and 21-hydroxylation was detected in three ABS patients. Considering that the enzymes responsible are all cytochrome P450 enzymes and that another cytochrome P450 enzyme, lanosterol 14alpha-demethylase, has recently been shown to be impaired in an ABS patient, we speculate that dysfunction of a system which commonly regulates cytochrome P 450 activity may be responsible for the ABS phenotype.

DIAGNOSIS AND MANAGEMENT OF TERATOMAS AND EPIDERMOID CYSTS

One can strongly suspect a benign lesion in a prepubertal child on the basis of preoperative sonographic, biochemical, and clinical evaluation; however, when considering a testis-sparing enucleation, the definitive diagnosis must be established by pathologic frozen section of the tumor. The high incidence of benign testicular lesions in the prepubertal patient, the absence of associated carcinoma in situ in prepubertal germ cell tumors, and the universally benign behavior of the specific tumors described in this article are supportive evidence for testis-sparing surgery versus orchiectomy, for these benign lesions.