Complex Mullerian Malformation: A Rare Case of Hypoplastic Noncavitated Uterus in the Middle with Two Rudimentary Horns on Either Side.

Mullerian anomalies which cause infertility in women were described by different classification systems. We report a rare case of uterine anomaly in a 16-year-old patient presented with primary amenorrhea. Her diagnostic laparoscopy findings revealed two uterine rudimentary horns on either side of the upper pelvis with a hypoplastic noncavitated central uterus. The pathogenesis of this anomaly may not be clearly defined but it was stated that these occur due to the developmental defects in embryo. This case report is one of the rarest cases presented and may signify the Mullerian duct anomaly.

An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative).

A 3-year-old Arabian mare underwent medical examinations due to the presence of abnormalities of the reproductive apparatus and stallion behavior (nervous temperament, aggressiveness, masculine attitude). During the clinical visit, an anovulvar distance shorter than normal was observed; moreover, vulvar lips were dorsally fused except for the lower neckline, showing a blind ending from which a penis-like structure protruded. The ultrasound examination revealed the presence of a cervix and corpus of a uterus, hypoplastic uterine horns, and small gonads with an echogenicity similar to a testis. Blood testosterone levels ranged from 0.4 to 0.6 ng/mL. Cytogenetic analysis showed a normal female karyotype (2n = 64,XX), while PCR amplification of SRY and ZFY genes revealed the absence of a Y chromosome. At necroscopic examination, internal genitalia arising from the genital ridge in the form of masculine type structures were found, while those deriving from the Mullerian ducts were of feminine type. In addition, an infundibular portion of the salpinx at the cranial pole of the gonads was found. This is the first case in equine species of DSD 2n = 64,XX SRY-negative, with the simultaneous presence of male (hypoplastic testicles, epididymal portions, and a penis-like structure) and female (cervix, horn and body of a hypoplastic uterus) genital structures.

Dysmorphic Uteri: Obstetric Results after Hysteroscopic Office Metroplasty in Infertile and Recurrent Pregnancy Loss Patients. A Prospective Observational Study.

To compare the obstetric results achieved after hysteroscopic office metroplasty (HOME-DU) in infertile and recurrent pregnancy loss (RPL) patients diagnosed with dysmorphic uterus, women hysteroscopically diagnosed with dysmorphic uterus who underwent uterine-enlargement metroplasty were prospectively enrolled from June 2016 until April 2020. Patients were followed up and obstetric outcomes were recorded (pregnancy and live birth rate). Sixty-three women (30 infertile; 33 RPL) were enrolled, of which 48 became pregnant post-HOME-DU, with an overall pregnancy rate of 76.2% (66.7% among infertile participants; 84.9% among those with RPL). Overall, 64.3% (n = 36/63) achieved live birth. Among infertile women, 62.07% (n = 18/29) achieved live birth, as well as 66.7% of women with RPL (n = 18/27). The difference in live birth rates between both cohorts was 4.6% (p > 0.05). The rate of miscarriage amongst infertile patients was 3.3% (n = 1/30) and 12.1% amongst women with RPL (n = 4/33). Office metroplasty via the HOME-DU technique improves obstetric results (namely increasing live birth rate) in patients with dysmorphic uterus and a history of reproductive failure. No significant difference was found in the clinical efficacy of HOME-DU in infertile and RPL patients.

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.

SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to various systemic features. We investigated a 26-year-old female patient suffering from spastic paraparesis, hypoplasia of corpus callosum, hypogonadotropic hypogonadism (HH) and intellectual disability, who was monitored for over 20 years, allowing a detailed genotype-phenotype correlation along time. Whole exome sequencing on the patient and her relatives identified a de novo SOX2 c.70del20 variant, which has been frequently reported in individuals with SOX2-related anophthalmia. Importantly, our patient lacked major ocular phenotype but showed vaginal agenesis, a feature never reported before. Although the involvement of male urogenital tract (cryptorchidism, hypospadias, small penis), is a well known consequence of SOX2 variants, their effect on the female genitalia has never been properly addressed, even considering the paradoxical female excess of SOX2 cases in the literature. Our findings emphasize the importance of testing for SOX2 variants in individuals with HH and genital anomalies even though anophthalmia or microphthalmia are not observed. Moreover, our case strengthens the role of SOX2 as a master regulator of female gonadal differentiation, as widely demonstrated for other SOX genes related to 46, XX sex reversal, such as SOX3 and SOX9.

Síndrome de Turner mixoploide: aberración estructural del cromosoma Y y su correlación con los dermatoglifos / Mixoploid turner Syndrome with a Y-chromosome structural aberration and its correlation with dermatoglyphs

Resumen ANTECEDENTES El análisis citogenético del síndrome de Turner suele ser una línea monosómica X. Son raros los casos reportados con más de una línea celular y aún menos con aberraciones estructurales del cromosoma Y. No es común que se incluyan análisis dermatoglíficos. CASO CLÍNICO Paciente de 8 años de edad, que al examen físico no evidenció ninguna característica fenotípica propia del síndrome de Turner, excepto talla baja, 1.28 cm (por debajo del percentil 3). La laparoscopia exploradora mostró al útero hipoplásico, trompas rudimentarias, cintillas ováricas hipoplásicas delgadas y anillos inguinales normales sin evidencia de hernias, no se detectó tejido testicular. El resultado de la citogenética convencional en sangre periférica fue de: 46,XY; bandeo "C" 46,XY; FISH 45,X[230]/46,XY[117]/46,X,dic.Y[64]. La dactiloscopia con aumento de verticilos coincidió con el aumento del número de crestas mayor al reportado como normal (127 ± 0.8), en quiroscopia ángulo ATD (92°), número de crestas a-b (86) y el porcentaje de t (24.3%). CONCLUSIÓN Se discute uno de los pocos casos reportados en la bibliografía de síndrome de Turner con tres líneas celulares diferentes, resultantes de un evento no disfuncional poscigótico y estructural cromosómico, así como el análisis de la dactiloscopia y quiroscopia y los aspectos genéticos, medio ambientales y bioquímicos de los dermatoglifos, coincidentes con los del síndrome clásico.

Abstract BACKGROUND Usually, cytogenetic analysis of Turner´s syndrome is presented as a single monosomic X cell line. Are rare the reported cases in which there are multiple cell lines and even less frequent descriptions of structural chromosomal aberrations of the Y-chromosome. Additionally, the cases reported to date do not include finger/palm process analysis. We present an infrequent case of a Turner syndrome with three different cell lines including a structural aberration of the Y-chromosome and to correlate with finger process and palm process analysis. CLINICAL CASE A 8-year-old female patient who did not show any Turnerian syndrome phenotypic characteristics except low height, 1.28 cm (under 3th percentile). Exploratory laparoscopy shows hypoplastic uterus, with rudimentary tubes, thin hypoplastic ovaries and normal inguinal rings without evidence of hernias. No testicular tissue was detected. Conventional cytogenetic findings in peripheral blood are: 46, XY; "C" banding 46, XY; FISH 45, X [230] / 46, XY [117] /46,X,dic.Y [64]. Finger process with increase of whorls was observed, coinciding with the increase in the number of ridges higher than that reported as normal (127 ± 0.8) and in the palm process the atd angle (92º), number of a-b crests (86) and the percentage of t (24.3%). CONCLUSION We discuss one of the few cases reported in the scientific literature of Turner syndrome with three different cell lines results from a non-dysfunctional post-zygotic etiology and its chromosomic structure; as well as the results of genetic, environmental and biochemical aspects of the finger/palm process and their correlation with the classical syndrome.

Efficacy of kidney-tonifying traditional Chinese medicine prescriptions in hypoplastic uterus treatment: a systematic review and meta-analysis.

AIM: To review and evaluate the efficacy of kidney-tonifying traditional Chinese medicine prescriptions (KT-TCMP) in hypoplastic uterus (HU) treatment. METHODS: We searched MEDLINE, the Cochrane Library, CNKI (China National Knowledge Infrastructure), WANFANG and VIP databases until 14 December 2013 independently with two investigators. Randomized controlled trials (RCT) involving KT-TCMP as a combined or monotherapy in the treatment of HU were reviewed and analyzed. Meta-analysis was performed by Review Manager (version 5.2). RESULTS: Nine RCT of 1745 patients were eligible for this review and meta-analysis, of which eight RCT described the primary outcome of clinical efficacy and three RCT drew the secondary outcome of uterine size. Meta-analyzed 'recovery' clinical efficacy of KT-TCMP in seven RCT was conducted which considered diethylstilbestrol therapy alone as control, as well as three RCT that meta-analyzed the effect of KT-TCMP on uterine diameter enlargement. As a result, KT-TCMP therapy had a significantly improved difference in increasing 'recovery' clinical efficacy (risk ratio, 2.34; 95% confidence interval [CI], 1.90-2.89) and enlarging the uterine diameter (standardized mean difference, 1.62; 95% CI, 1.39-1.84). One study reported adverse reactions as an important outcome and found it was safe during KT-TCMP therapy. CONCLUSION: The therapy of applying KT-TCMP as a combined or monotherapy in the treatment of HU may be more efficacious. However, these RCT were of moderate methodological quality and small sample size; thus, the results should be confirmed with more rigorously controlled further studies.

Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus.

Swyer syndrome or pure 46, XY gonadal dysgenesis is a condition in which the individuals have female appearance. They classically present as sexually infantile phenotypic females with primary amenorrhoea. People with this disorder have female external genitalia but the uterus and fallopian tubes are underdeveloped. However, they do not have functional gonads (ovaries or testes). Instead, they have streak gonads. We are reporting a case of Swyer syndrome with partially developed breasts, hypoplastic uterus, and absent streak gonads. The patient was treated with hormonal therapy and few years after her presentation, breast and uterine development were noted. In view that the patient is already married, the option of fertility was discussed with her. This case illustrates a rare case of gonadal dysgenesis and demonstrates the importance of counseling on the options of treatment, especially regarding fertility.