Conflict of interest: No potential conflict of interest relevant to this article was reported. Case Report. Published online: December 31, Abstract Turner syndrome is the most common chromosomal disorder in girls. Introduction Mixed gonadal dysgenesis MGD is a disorder of the sexual differentiation characterized primarily by dysgenetic testicular tissue on one side and a streak gonad on the other.
The clinical phenotype varies considerably and depends on the amount of secreted testosterone by fetal testis. Thus, the phenotype ranges from normal male through patients with ambiguous external genitalia to females 1. MGD is heterogeneous in its etiology and that incomplete development of the testis can be due to an error in either testis determination or differentiation. Mutations in testis determining gene such as SRY are not generally found in this condition 2.
Dysgerminoma and clitoromegaly were reported as clinical evidence of Y chromosome material in 45,X Turner patients, whose SRY gene was detected in polymerase chain reaction-amplified DNA test 3. Unrecognized Y-derived material is known to increase the risk of gonadal neoplasia, especially gonadoblastoma, therefore every effort should be paid for the detection of Y-derived material in Turner patients 4 5 6. Case report Ten years and 3 month-old girl was brought to endocrine clinic for short stature.
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She was delivered uneventfully at 40 weeks of gestation with 3. She had neither cubitus valgus deformity nor webbed neck.
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Knuckle sign was negative. Multiple freckles were found at back area. Audiometry, echocardiography, kidney ultrasonography were all normal. Her karyotyping revealed 45,X. After diagnosis of Turner syndrome, growth hormone had been given for the treatment of short stature, and estradiol replacement was started at Because SRY gene was positive, she was scheduled to perform laparascopic gonadectomy at 14 years of age.
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On pelvic laparoscopy, the uterus and both fallopian tubes looked normal, but both gonads looked streak in appearance Fig. Both adnexa were removed. On pathologic exam, salpinx was observed with dysgenetic gonad Fig. The dysgenetic gonad had stroma of whirling pattern with primordial follicles resembling ovarian stroma Fig. Vas deference was seen as tubular structures surrounded by fibromuscular stroma in certain part of stroma Fig.
Sertoli cells and spermatogonia were seen in the seminiferous tubules without spermatogenesis Fig. On the other side of adnexa, dysgenetic ovarian stroma with whirling pattern, vas deference, and Leydig cell cluster were also observed. Pathologic findings were compatible to mixed gonadal dysgeneis. Discussion This case is genetically Turner syndrome with karyotype of 45,X, but pathologically mixed gonadal dysgeneis. The positive SRY gene is an evidence of unrecognized Y material which was not found in karyotyping. Our case revealed 45,X in standard karyotyping, but positive SRY was the hallmark of the presence of cryptic Y material.
The clinical phenotype may range from almost normal female external genitalia with mild clitoromegaly, through ambiguous genitalia, to isolated hypospadias or normal male external genitalia. Explain the pathophysiology of hyperthyroidism and determine which labs to order to confirm diagnosis. This module serves as a useful tool to understand the subspecialty of pediatric endocrinology. The compilation of case studies, along with intervening physiology presented in this resource, can supplement a user's pediatric rotation.
Exposure to pediatric endocrinology is somewhat limited at most institutions, so this module will be able to give a well-rounded introduction to this field. Common pediatric endocrinology cases, primarily related to thyroid disease and diabetes, are explored within this module. The reason for highlighting these conditions is that they represent a high occurrence of pediatric endocrine cases encountered in clinical settings. Medical students who are planning on rotating with a pediatric endocrinologist during their clinical years are a subset of the main target audience.
Pediatric residents can also benefit from this module because it encompasses the biopsychosocial model of care, including information on how to advise on diet and exercise, how patients manage their medical care at school, and how families cope with a diagnosis of a chronic illness. These principles have the utility to be applied to multiple fields throughout pediatrics. Keeping that in mind, this module can also target students belonging to various branches of the health science field, including nursing, nurse practitioner, physician assistant, and social work students.
A prerequisite of an endocrinology course is needed to utilize this resource to its fullest capacity. In relation to other existing resources that review pediatric endocrinology cases, there are myriad textbooks and journals dedicated to publishing up-to-date research, which we referenced when conducting a literature review to develop this resource.
The interactive approach allows a user to learn the basics of the disease process, make decisions regarding the patient's care, and also think about the long-term outcomes of different treatment plans. This module serves as a convenient and interactive way to review a range of endocrinology cases, as well as other important aspects of patient care. Creation of this module was brought about by our participation in the Texas Tech Apprenticeship Program, designed to allow first- and second-year medical students early clinical exposure and contact with faculty.
The program consisted of an apprenticeship in a pediatric endocrinology clinic and a role serving as a counselor at a pediatric diabetes summer camp. The material and case studies presented are based on these firsthand experiences, as well as an extensive literature review. Key aspects of the module's design include self-pacing and user interaction. The presentation Appendix A aims to simulate a rotation in a pediatric endocrinology clinic by presenting common topics followed by real-world case studies. A generalized understanding of endocrine disorders is needed to fully utilize this material; however, no additional resources are necessary.
This module was created using Microsoft PowerPoint.
By viewing the module in presentation mode, the user is able to navigate through certain subsections, answer questions, and proceed through the rest of the presentation. This presentation can be used by a single user or in a small-group setting or can be presented to a larger group for more of a discussion-based interaction.
Since the Results section below presents the analyzed data, we have also included a file depicting the raw data Appendix B. This file was made available in case users wish to see the raw data to draw their own conclusions about the efficacy of this resource.
The interactive module was tested by utilizing a focus group of medical students along with pre- and postsurveys. At the time of survey initiation, first-year medical students had completed a basic endocrinology physiology course. Details of the quantitative analysis of the study are shown in the Table. As is evident in the Table , all the p values comparing both the pre- and postsurveys were less than. Although it is not appropriate to state that this change is statistically significant based on the small sample size of 28 and no sample-size calculation, a general trend of these data can still illustrate the utility of this module.
The general trend shown is that users become more confident in their knowledge base after completing the interactive module and appear to feel more comfortable in clinical skills as well. Users ranked the usefulness of the module as 4. Blank cells indicate questions that were included in either the pre- or postsurvey, but not in both; p values are available only for those questions included in both the pre- and postsurveys. Qualitative metrics were also obtained in the form of a question inquiring about suggestions for improvement. One user suggested adding a voice-over to explain certain parts of the presentation.
This interactive module was created to accomplish a few goals, namely, to review endocrine physiology, understand the biopsychosocial model of children diagnosed with an endocrine disorder, and utilize simulated case studies to become familiar with patient management. A culmination of personal experiences in a pediatric endocrinology clinic and diabetes summer camp, as well as an extensive literature review, served as the inspiration for designing the module. When a user walks through the interactive learning module, he or she is able to learn the basic science and clinical skills needed to excel in a pediatric endocrinology rotation.
Testing this module using a cohort of medical student peers proved to be very successful. Survey data showed that students were amenable to using a resource outside of their school materials to study for pediatric endocrinology. It is encouraging that this same group of students rated this specific resource highly in both utility and satisfaction. The main target audience includes medical students who will rotate with a pediatric endocrinologist, but pediatric residents would most likely also benefit from this content. As stated in the Introduction, the fact that this module presents extra information in addition to case studies allows the user to have the full range of information available in just one resource.
A medical student can learn the basics of a disease process, then attempt to manage a case based on what has been learned. The survey results indicate that users experienced an increase in both basic science and clinical skills components. Find out more about cookies Continue. Search Menu. Exhibitions and Events Events Exhibitions Previous events.
Support Borrowing and reservations Literature searching and training Keeping up to date Accessibility. Children and Young People: Endocrinology and Diabetes. Key Resources National Institute for Health and Care Excellence Human growth hormone somatropin for the treatment of growth failure in children. NICE guidance is officially England only.