Approach to the Patient: Diagnosis and Treatment with Growth Hormone of Turner Syndrome and its Variants.

CONTEXT: Turner syndrome (TS) is characterized by a partial or complete absence of the second X chromosome in female. Here, patients with Xp deletion involving SHOX haploinsufficiency caused by unbalanced X-autosome translocations were discussed and considered as TS variants. OBJECTIVE: This work aimed to expand the current knowledge of TS and unbalanced X-autosome translocations and to suggest the definition, clinical characteristics, diagnosis workflow and growth hormone (GH) treatment strategy of TS and its variants. METHODS: A 9.0-year-old patient of TS variant with tall target height (+2.03SD) but low height velocity (3.6cm/y) and height (-1.33SD) was evaluated as an example. Patients similar to the index patient were systematically searched in MEDLINE and EMBASE and summarized. A diagnosis workflow and scores for risk assessment of GH treatment (RiGHT scores) for TS variants were also proposed in this study. RESULTS: According to the diagnosis workflow, the girl's karyotype was confirmed as 46,X,der(X)t(X;7)(p11.3; p14.1), and was evaluated as low risk using RiGHT scores. After 2-year GH treatment, she had a significantly increased height (-0.94SD). Moreover, a total of 13 patients from 10 studies were summarized, characterized as short stature, growth retardation, craniofacial abnormalities, disorders of intellectual development, and psychomotor delays. Risk assessment of GH treatment using RiGHT scores were also applied in these 13 patients. CONCLUSION: The patients with Xp deletion caused by unbalanced X-autosome translocations should be considered as TS variants. The diagnosis workflow and RiGHT scores is a useful approach for clinicians in addressing complex cases of TS variants with GH treatment in clinical practice.

Bullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?

Congenital pulmonary anomalies in Turner syndrome (TS) are rarely reported. Herein, we describe a female with TS who presented with emphysema in infancy and developed pulmonary hypertension in adulthood. A 4-month-old patient presented with recurrent emesis and failure to thrive. Diagnostic testing indicated cardiomegaly and echocardiogram revealed abnormalities including left aortic arch with aberrant right subclavian artery, aortic coarctation, and left ventricular (LV) dysfunction. At 19-months, she underwent surgical intervention through a lateral thoracotomy which exposed numerous small air-filled blebs over the left lung. She had persistent LV dysfunction postoperatively. At 12-years-old, genetic testing revealed 45,X/46,Xidic(Y)(q11.22) and she subsequently received routine treatment for Turner syndrome. At 23-years-old, this patient presented to the emergency department with dyspnea, worsening cough, and edema. Echocardiogram demonstrated a reduced LVEF, aortic valve insufficiency, and pulmonary artery (PA) hypertension. CT chest showed multiple apical blebs and cardiac catheterization demonstrated pulmonary hypertension. She was treated with intravenous diuresis and cessation of Humira, which normalized LVEF and reduced PA pressure. Repeat cardiac catheterization 6 months later indicated elevated LVEDP, pulmonary vascular resistance, and mean PA pressures. Altered lymphatic drainage in utero of patients with TS may lead to emphysematous changes in the lungs. These changes may not raise concern in infancy but can possibly contribute to cardiopulmonary pathology in the future. We recommend ongoing routine care to monitor for acquired cardiopulmonary co-morbidities. Bullous lung disease may occur due to altered lymphatic drainage in patients with TS and may be a risk factor for developing or contributing to pulmonary hypertension.

49,XXXXY PATIENT AND INCIDENTAL FINDING OF LOW LEVEL MOSAIC 45,X IN THE MOTHER.

Context: 49,XXXXY syndrome is an aneuploidy that affects males and is commonly referred to as a variant of Klinefelter Syndrome. It presents a frequency of 1:85,000 to 100,000 births and an etiology related to non-disjunction of homologous chromosomes. Findings include skeletal abnormalities, hypogonadism, and cognitive impairment. Turner syndrome is also an aneuploidy of the sex chromosomes, which affects women, and has a prevalence of 1:2000 to 2500 births and a phenotype characterized by short stature and sexual infantilism. Objective: The objective of this article was to study the literature, investigate the family members and report the case. Subjects and Methods: Data collection was based on medical records, family history, karyotype analysis, and FISH analysis. Results: The karyotype of the proband revealed mos 49, XXXXY[45]/46, XY[5]. The patient's mother is affected by mosaic Turner Syndrome low level and the maternal grandmother by inversion of chromosome 9. The father, the younger brother, and the paternal grandmother present variations in the normality of their chromosomes. Conclusions: It is important to highlight that the early diagnosis of the syndrome and the initiation of therapy reduce biopsychosocial impairment. Investigation of other family members makes genetic counseling more effective.

Immune triggers preceding neuralgic amyotrophy.

BACKGROUND AND PURPOSE: Infections and vaccinations have been identified as potential immunological triggers of neuralgic amyotrophy (NA), but the exact type and frequency of the preceding agents is unknown. METHODS: This was a multicentre, prospective, observational, matched case-control study. NA was diagnosed by neuromuscular experts according to validated clinical criteria and electrodiagnostic studies. Clinical data and biological samples of NA patients were collected within 90 days from disease onset between June 2018 and December 2023. All NA patients were asked about prior infection and vaccination in the month before disease onset. Serological tests for hepatitis E virus, human immunodeficiency virus, severe acute respiratory syndrome coronavirus 2, Epstein-Barr virus, cytomegalovirus, parvovirus B19, varicella-zoster virus, Borrelia burgdorferi, Mycoplasma pneumoniae and Bartonella henselae were performed in a central laboratory. Each case was matched with a healthy control for age, sex, place of residence and time of blood collection. RESULTS: Fifty-seven patients and corresponding controls were included. The mean age was 45 years for both groups. NA onset was preceded by a symptomatic infectious trigger confirmed by microbiological tests in 15/57 (26.3%) patients. Coronavirus disease 2019 vaccination was considered a potential trigger in 7/57 (12.3%) subjects. An acute viral infection was associated with a bilateral involvement of the brachial plexus (p = 0.003, Cramèr's V = 0.43). CONCLUSIONS: Confirmed immune triggers (infection or vaccination) preceded disease onset in 22/57 (38.6%) NA cases. We suggest to test NA patients in the acute phase for intracellular antigens, especially in the case of concomitant bilateral involvement and hepatitis.

Visual Impairment in Women with Turner Syndrome-A 49-Year Literature Review.

Aim: Among the severe organ complications occurring in patients with Turner syndrome (TS), ophthalmic dysmorphia and visual impairment are usually marginalized. There are only a few studies that take into account the prevalence of ophthalmic disorders in female patients with TS. Material and methods: Articles in PubMed, Scholar, and Website were reviewed, considering the prevalence of various ocular disorders in patients with X chromosome deficiency. Current standards for the management of patients with TS in the context of the prevalence of ophthalmic disorders were also analyzed. Results: Identification of visual impairment in people is important because it significantly impairs quality of life (QoL) along with other health problems. QoL affects cognitive and behavioral functioning and significantly increases self-esteem, acceptance of treatment, and, consequently, physical and mental health. Low self-esteem makes patients feel helpless and unable to plan their social development. Patients with TS are relatively more frequently diagnosed with various eye defects compared to the healthy population. Therefore, special attention should be paid to the early assessment of the visual system in people with TS to eliminate any factors that could potentially impair their QoL. Conclusions: Patients with TS should be referred to specialist ophthalmologists, pediatricians, or optometrists for preventive care or early treatment of visual impairment. The authors point out the need for comprehensive ophthalmological examinations as standard management in patients with TS.

White matter microstructure and functional connectivity in the brains of infants with Turner syndrome.

Turner syndrome, caused by complete or partial loss of an X-chromosome, is often accompanied by specific cognitive challenges. Magnetic resonance imaging studies of adults and children with Turner syndrome suggest these deficits reflect differences in anatomical and functional connectivity. However, no imaging studies have explored connectivity in infants with Turner syndrome. Consequently, it is unclear when in development connectivity differences emerge. To address this gap, we compared functional connectivity and white matter microstructure of 1-year-old infants with Turner syndrome to typically developing 1-year-old boys and girls. We examined functional connectivity between the right precentral gyrus and five regions that show reduced volume in 1-year old infants with Turner syndrome compared to controls and found no differences. However, exploratory analyses suggested infants with Turner syndrome have altered connectivity between right supramarginal gyrus and left insula and right putamen. To assess anatomical connectivity, we examined diffusivity indices along the superior longitudinal fasciculus and found no differences. However, an exploratory analysis of 46 additional white matter tracts revealed significant group differences in nine tracts. Results suggest that the first year of life is a window in which interventions might prevent connectivity differences observed at later ages, and by extension, some of the cognitive challenges associated with Turner syndrome.

Isochromosome Mosaic Turner Syndrome With Concomitant Hypopituitarism and Multiple Meningiomas.

Isochromosome mosaic Turner syndrome (IMTS) is a rare genetic variant of Turner syndrome (TS). The diagnosis of TS can be missed until adolescence or early adulthood in females with minimal symptoms. The clinical features of mosaic TS can be atypical and should be evaluated thoroughly to detect potential complications. Here, we describe a unique report of a 47-year-old woman diagnosed with IMTS, hypogonadotropic hypogonadism, and multiple meningiomas. She presented with decreased responsiveness and decreased appetite. She had primary amenorrhea, hearing loss, and visual impairment for which focused medical care was not sought. Physical examination revealed short stature, short neck, Tanner stage 3 breast, Tanner stage 1 vaginal development, and absent axillary and pubic hair, which led us to a clinical diagnosis of TS. A transabdominal ultrasound revealed a hypoplastic uterus with no visualized ovaries. A slit lamp examination revealed bilateral immature cataracts and optic atrophy. An audiogram confirmed sensorineural hearing loss. The intelligence quotient was below average. Hormonal assays showed hypogonadotropic hypogonadism and secondary adrenal insufficiency, which is not a feature of TS. This abnormal hormonal assay prompted us to do magnetic resonance imaging of the brain, which showed meningiomas in the suprasellar region and left cerebellopontine angle. Karyotyping revealed 46,X,i(X)(q10)(37)/45,X(3), which was suggestive of IMTS. The patient required a multidisciplinary approach in the evaluation, diagnosis, and management, which included hormone replacement therapy and supportive and psychological care.

Left pulmonary vein anatomical variation in Turner syndrome. Benefits of three-dimensional visualization for surgical planning.

A 41 year-old female with a medical history of Turner syndrome underwent a chest computed tomography (CT) scan which revealed a varicose left pulmonary vein and an endobronchial tumor of the left lower lobe. As venous drainage of each lobe seemed to be respected, surgical resection was considered. During surgical exploration, the absence of fissure and a unique venous trunk was observed. Surgical resection was aborted as only pneumonectomy was possible in this context. Endobronchial resection was performed. To better understand this particular anatomy, a three-dimensional (3D) reconstruction was performed a posteriori. This technique is already commonly used in the preoperative planning of pulmonary segmentectomy. Here, we have shown its interest in a lung malformative context.

A mathematical framework for genetic relatedness analysis involving X chromosome aneuploidies.

The unique features of the X chromosome can be crucial to complement autosomal profiling or to disentangle complex kinship problems, providing in some cases a similar or even greater power than autosomes in paternity/maternity investigations. While theoretical and informatics approaches for pairwise X-linked kinship analyses are well established for euploid individuals, these are still lacking for individuals with an X chromosome aneuploidy. To trigger the fulfilment of this gap, this research presents a mathematical framework that enables the quantification of DNA evidence in pairwise kinship analyses, involving two non-inbred individuals, one of whom with a non-mosaic X chromosome aneuploidy: Trisomy X (47, XXX), Klinefelter (47, XXY) or Turner (45, X0) syndrome. As previously developed for a regular number of chromosomes, this approach relies on the probability of related individuals sharing identical-by-descent (IBD) alleles at one specific locus and it can be applied to any set of independently transmitted markers, with no gametic association in the population. The kinship hypotheses mostly considered in forensic casework are specifically addressed in this work, but the reasoning and procedure can be applied to virtually any pairwise kinship problem under the referred assumptions. Algebraic formulae for joint genotypic probabilities cover all the possible genotypic configurations and pedigrees. Compared with the analyses assuming individuals with a regular number of chromosomes, complicating factors rely on the different possibilities for both the parental origin of the error (either maternal or paternal), and the type of error occurred (either meiotic or post-zygotic mitotic). These imply that a non-inbred female with Triple X or a male with Klinefelter syndrome may carry two IBD alleles at the same locus. Thus, and contrarily to what occurs for the standard case, IBD partitions depend not only on the kinship hypothesis under analysis but also on the genotypic configuration of the analyzed individuals. For some cases, parameters of interest can be inferred, while for others recommended values based on the available literature are provided. This work is the starting point to analyze X-chromosomal data under the scope of kinship problems, involving individuals with aneuploidies, as it will enhance the quantification of the DNA evidence not only in forensics but also in the medical genetics field. We hope it will trigger the development of approaches including other complicating factors, as a greater number of individuals, possibility of the occurrence of mutations and/or silent alleles, as well as the analysis of linked markers.

High-resolution ultrasound and superb microvascular imaging findings in a case of post-COVID-19 vaccine parsonage-turner syndrome with multiple nerves involvement.

Parsonage-Turner syndrome (PTS) is an idiopathic condition that may be triggered by vaccination against SARS-CoV-2. High-resolution ultrasound can support the diagnosis and monitoring of PTS patients by demonstrating specific nerve abnormalities. The recently implemented superb microvascular imaging technology can help stratify the prognosis of these patients, with the potential to contribute to the clinical management of PTS.

Metabolic Risk in Patients with a Diminished Ovarian Reserve and Premature Ovarian Insufficiency.

Objective: Diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI) represent conditions of different severity, characterized by an earlier-than-expected decrease in ovarian activity. The present study aims to compare metabolic disturbances between women with DOR and patients with POI from a different origin. Materials and methods: A total of 226 women (28 healthy women; 77 individuals with DOR, and 121 patients with POI/36 with Turner syndrome [TS] and 85 with non-TS POI/) have been studied retrospectively. Data concerning anthropometric indices, and metabolic parameters were collected. Results: Patients with DOR, non-TS POI, and TS had increased blood pressure and liver enzymes, pronounced insulin resistance, and worse lipid profiles than controls (p < 0.008 for all). TS patients had significantly higher ASAT, GGT, and TSH levels compared to non-TS POI and DOR individuals. The prevalence of type 2 diabetes tended to be higher in TS women compared to other groups. The prevalence of previously diagnosed polycystic ovarian syndrome was lower in the non-TS POI patients than in the DOR patients (p = 0.005). Conclusions: patients with decreased ovarian function suffer from insulin resistance, abnormal lipid profile, and subtle hepatic disturbances, irrespective of the severity of the condition and the presence of chromosomal aberrations.

Live birth rate after oocyte donation in females diagnosed with turner syndrome: a systematic review and meta-analysis.

BACKGROUND: An enduring challenge for women diagnosed with Turner syndrome (TS) is infertility. Oocyte donation (OD) offers a chance of pregnancy for these patients. However, current data on pregnancy outcomes are inadequate. Hence, this systematic review aims to explore the clinical outcomes of OD in patients with TS. METHODS: A systematic search was conducted in PubMed, Web of Sciences, Scopus, and Embase for relevant papers from 1 January 1990 to 30 November 2023. Our primary research objective is to determine the live birth rate among women with TS who have undergone in vitro fertilization (IVF) using OD for fertility purposes. Specifically, we aim to calculate the pooled live birth rates per patient and per embryo transfer (ET) cycle. For secondary outcomes, we have analyzed the rates of clinical pregnancy achievement per ET cycle and the incidence of gestational hypertensive complications per clinical pregnancy. Prevalence meta-analyses were performed using STATA 18.0 by utilizing a random-effects model and calculating the pooled rates of each outcome using a 95% confidence interval (CI). RESULTS: A total of 14 studies encompassing 417 patients were systematically reviewed. Except for one prospective clinical trial and one prospective cohort study, all other 12 studies had a retrospective cohort design. Our meta-analysis has yielded a pooled live birth rate per patient of 40% (95% CI: 29-51%; 14 studies included) and a pooled live birth rate per ET cycle of 17% (95% CI: 13-20%; 13 studies included). Also, the pooled clinical pregnancy achievement rate per ET cycle was estimated at 31% (95% CI: 25-36%; 12 studies included). Moreover, the pooled rate of pregnancy-induced hypertensive disorders per clinical pregnancy was estimated at 12% (95% CI: 1-31%; 8 studies included). No publication bias was found across all analyses. CONCLUSIONS: This study demonstrated promising pregnancy outcomes for OD in patients with TS. Further studies are essential to address not only the preferred techniques, but also the psychological, ethical, and societal implications of these complex procedures for these vulnerable populations. TRIAL REGISTRATION: This systematic review was registered in the International Prospective Register of Systematic Reviews (PROSPERO) under the registration code CRD42023494273.

Neuralgic amyotrophy of Parsonage and Turner. Which nerves are most frequently involved in daily practice? Data from 355 patients.

OBJECTIVES: The aim of this study was to conduct a retrospective analysis of clinical patterns associated with neuralgic amyotrophy of Parsonage and Turner (NAPT) in a series of 355 patients seen in "ambulatory care". METHODS: Clinical, epidemiological and electrodiagnostic (EDX) data were collected by means of an electrodiagnosis consultation. Data were obtained on age, sex, body mass index, side involved, nerves involved, number of nerves involved per attack, number of attacks per patient, number of bilateral, recurrent, and hereditary cases. RESULTS: Mean age was 42.7 years, 218 patients (61%) were male, mean body mass index was 23.8; the right side was involved in 232 cases (65%). Inflammatory mononeuropathy (MN) was the most frequent elementary nerve lesion. It was unique (UMN) in 253 patients (71%), and multiple (MMN) in 102 (29%), with a total of 495 neuropathies, and a mean of 2.38 nerves involved in one patient with multiple mononeuropathy (MMN). Five nerves are more frequently involved: long thoracic (n=138), suprascapular (n=129), anterior interosseous (n=53), spinal accessory (SAN) (n=51), lateral antebrachial cutaneous (n=41) nerves. Other nerves (axillary, posterior interosseous, sensory median, phrenic, ulnar and medial antebrachial cutaneous nerves, and lumbo-sacral plexus) are less frequently involved, and less suggestive for NAPT diagnosis. Bilateral, recurrent and hereditary cases were observed in 22, 10 and 0 cases, respectively. CONCLUSIONS: The clinical patterns of NAPT in ambulatory care thorough an EDX consultation have showed that unique mononeuropathy (UMN) are more frequent than MMN, what results in milder cases; and that five nerves lesions are more frequent and more suggestive of NAPT.

Anti-N-methyl-D-aspartate Receptor Encephalitis in Turner Syndrome with 45,X/46,X,idic(X)(p11.4) Mosaics.

A 46-year-old woman with Turner syndrome (TS) (45,X/46,X,idic (X) (p11.4) mosaic) presented with a fever, unresponsiveness, hyperhidrosis, and rigidity approximately one month after episodes of confusion and suicide attempts, prompting a diagnosis of schizophrenia. Cerebrospinal fluid (CSF) showed mild hypercellularity with oligoclonal bands. Brain and abdominal magnetic resonance imaging showed no abnormalities. Bizarre upper-extremity movements and spasms followed the trial administration of acyclovir, and autoimmune encephalitis was suspected. Intensive immunotherapy was initiated, and the symptoms improved. Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis was diagnosed based on the presence of anti-NMDAR antibodies in her spinal fluid. This case represents a rare presentation of anti-NMDAR encephalitis in TS, which is susceptible to autoimmune disease complications.

Diagnostic challenge of cutis Verticis Gyrata (CVG) in a patient presenting clinical features of Noonan or turner syndrome.

Cutis Verticis Gyrata (CVG) is an uncommon condition, often classified as primary (idiopathic) or secondary to other diseases or syndromes. Its pathogenesis remains poorly understood, and its association with genetic syndromes is particularly rare. Noonan and Turner syndromes are distinct genetic disorders with characteristic phenotypes and multiple systemic involvements. This report aims to highlight the diagnostic complexities when CVG presents in the backdrop of these syndromes. A 38 years old patient was presented with chief complaints of receding hairline, dropping eyelids, cerebral deformations with deep furrows and thickened dermis. On the basis of patient's complaints, Noonan or turner syndrome was considered as possible diagnosis. This particular report presents a case of patient suffering from CVG having history of noonan and turner syndrome. With the detailed MRI, histology etc. CVG was finally confirmed. The novelty of this case lies in its rarity, diagnostic complexity, and the need for a multidisciplinary approach to unravel and manage the intersecting conditions. It contributes valuable insights to the existing medical literature, enhancing our understanding of the interplay between dermatological and genetic conditions. Patients with Noonan and turner syndrome exhibit clinical signs and symptoms that are strikingly similar to those of CVG, suggesting that this presents a significant diagnostic problem. An unfavorable outcome could arise from delayed or incorrect diagnosis. Because of this, it is recommended that healthcare fraternities should include uncommon illnesses like CVG as differential diagnosis. Considering CVG in differential diagnosis is crucial for early identification, accurate diagnosis, and comprehensive management. It ensures that associated systemic and genetic conditions are not overlooked and that patients receive holistic and personalized care.

Parsonage-Turner Syndrome Following AstraZeneca COVID-19 Vaccination.

INTRODUCTION: Parsonage-Turner Syndrome is an uncommon cause of shoulder pain. CASE REPRESENTATION: Herein, we present the case of a male in his 40s, who was presented with a 3-month history of acute onset of intense shoulder pain, which decreased rapidly leaving behind a residual upper limb weakness. The diagnosis of Parsonage-Turner Syndrome following COVID-19 vaccination was made based on electroneuromyography and magnetic resonance imaging findings. The patient responded well to analgesics and rehabilitation. CONCLUSION: A better knowledge of this disease and early recognition are crucial to prevent unnecessary tests and interventions.

A Case Report of Verheij Syndrome.

Verheij syndrome (VRJS) is a rare genetic disorder characterized by a range of developmental issues and physical abnormalities. This condition is caused by mutations or deletions in the PUF60 (poly-U-binding factor 60 kDa) gene, which is located on the long arm of chromosome 8, specifically in the q24.3 region. We present a unique case of an 11-year-old girl child with VRJS. The child presented with absence seizures. She was noted to have short stature, spina bifida of the lower cervical vertebrae, and a smaller right kidney on ultrasonography. This case expands the phenotypic spectrum of VRJS by demonstrating a milder presentation, highlighting the importance of a high index of suspicion for the diagnosis, even in atypical presentations. Whole exome sequencing identified the causative mutation, confirming the diagnosis. Growth hormone therapy was initiated for short stature but discontinued due to the subsequent development of idiopathic intracranial hypertension. Additionally, this report represents the first documented case of VRJS in India, emphasizing the importance of global data sharing and collaboration for improving the understanding and management of rare genetic disorders.

Lymphedema in Turner syndrome: correlations with phenotype and karyotype.

OBJECTIVES: Lymphedema (LD) in Turner syndrome (TS) is a commonly reported comorbidity, though its associations with karyotype and other comorbidities are poorly understood. Characteristics of patients with TS and LD, including correlation with phenotype and karyotype, are described. METHODS: Medical records of patients with TS seen in two pediatric institutions from 2002 to 2020 were retrospectively reviewed. Demographic data (age, presentation onset, clinical features, genetics, LD presence, investigations, treatments) were collected. RESULTS: 393 girls with TS with mean age of 12.5 years (SD: 5.7) were identified. LD was noted in 37 % of patients (n=146). Among the 112 patients with TS and documentation of onset of LD, LD was noted within the first year of life in 78.6 % (n=88). 67.6 % (n=96) of total patients with TS and LD had non-mosaic 45, X karyotype. Frequency of webbed neck was significantly greater in girls with TS and LD compared with girls without LD (58 vs. 7 %, p<0.001). Congenital heart anomalies, hypertension, and renal anomalies were also more common in girls with LD. Nail abnormalities with presence of hypoplastic or dysplastic nails were significantly associated with LD (OR: 6.784, 95 % CI 4.235-11.046). The number of girls reporting presence of LD decreased with age. CONCLUSIONS: LD in TS often occurs within the first year of life, is less prevalent in older children and adolescents, and is significantly associated with 45, X karyotype, presence of webbed neck, nail changes, congenital heart anomalies, and renal anomalies.

First successful ovarian cortex allotransplant to a Turner syndrome patient requiring immunosuppression: wide implications.

OBJECTIVE: To determine whether we can safely and successfully transplant an ovary tissue allograft from a nonidentical donor to her Turner syndrome sister. DESIGN: Transplantation of cryopreserved ovary tissue, as well as fresh transplantation of ovarian tissue between identical twins, is now well established with numerous reported successful cases. However, there have not yet been any ovary transplants between nonidentical women requiring immunosuppression (ovary allotransplant). This could be a much more common indication for ovary tissue transplantation if safe and reliable immunosuppression were available. SETTING: Infertility Center of St. Louis. PATIENT(S): A 20-year-old amenorrheic woman with nonmosaic 45-XO Turner syndrome requested ovary tissue transplantation from her fertile 22-year-old 46-XX sister. They were an human leukocyte antigens match but were ABO incompatible, a well-known contra-indication to solid tissue or organ transplantation. The Turner syndrome sister strongly preferred to be able to become pregnant naturally without donor egg in vitro fertilization and to avoid hormone replacement therapy. In her religious group, that would also be important for finding a marital match. Despite the poor prognosis associated with ABO incompatibility, an ovary from her 22-year-old nonidentical fertile sister was transplanted to her employing the immunosuppression protocol now used for kidney transplant patients in our centers at Washington University and Johns Hopkins. INTERVENTION(S): Not applicable. MAIN OUTCOME MEASURE(S): Post operatively at 5 months she developed normal monthly menstrual ovarian function, and she became spontaneously pregnant with a normal infant girl. The relation between her postoperation follicle stimulating hormone and antimüllerian hormone levels continue to support the theory that tissue pressure controls primordial follicle recruitment. The fact that ABO incompatibility did not prevent success suggests that diffusion and not revascularization may be all that is required for successful long-term ovarian cortex transplant survival with spontaneous pregnancy. RESULT(S): Ovary allotransplantation with safe immunosuppression allows natural conception, and also normal hormone function obviates the need for hormone replacement therapy. Orthotopic placement of the graft and surgical technique is critical for natural conception and a higher pregnancy rate. CONCLUSION(S): Allotransplantation requiring safe immunosuppression, if successful, maybe a much more commonly used indication for ovary transplantation in the future than frozen ovary grafts or grafts between identical twins.