UNASSIGNED: To highlight the challenges in diagnosing 46, XY disorder of sex development related to MYRF mutation.
UNASSIGNED: We present an unusual case of a 12-year-old female child came for enlargement of clitoris and initially diagnosed as partial androgen insensitivity syndrome (AIS).
UNASSIGNED: On examination, the patient\'s vulva was found virilized with 3cm-long clitoris. Her peripheral blood karyotype was 46, XY. The ultrasound showed an empty pelvis and hormone results confirmed hyperandrogenism. Therefore, the partial AIS was suspected, but the following whole exon sequencing indicates a pathological missense mutation in MYRF. Further investigation and surgery did not reveal any brain, heart, lung or diaphragm lesions related to MYRF, but only maldeveloped internal genitalia and a persistent urachus. Her serum testosterone dropped to normal after surgical removal of the remaining ipsilateral testis and epididymitis without spermatogenesis as shown by pathology.
UNASSIGNED: Due to the karyotype, hyperandrogenism, empty pelvis but a virilism after puberty, the patient was initially diagnosed as partial AIS. This misleading clinical diagnose will not be verified as the MYRF mutation if without the whole exon sequencing, particularly in the absence of obvious brain, heart, lung and diaphragm lesions as in this case.

Disorders of sex development (DSDs) are very frequently encountered in ancient Greek mythology. One of the most striking types of DSD described in many myths is gender transformation wherein a female becomes a male or vice versa. Herein, we present via the marvelous myth of Poseidon and Caeneus a case of pubertal gender inversion. A medical interpretation of the myth whereby we attempt to form a diagnosis of this case of DSD is also presented.

A rare disorder of sex development (DSD) linked to a 46,XX karyotype is characterized by male external genitalia, which can range from typical to atypical, often accompanied by testosterone deficiency. A 3-year-old child who appeared phenotypically male was brought to the hospital by his parents due to concerns about ambiguous genitalia. A comprehensive series of pathological tests and radiological imaging studies were conducted to ascertain the underlying cause of his presentation. Karyotyping revealed a 46,XX genotype, while magnetic resonance imaging (MRI) results indicated the presence of both testes and a Müllerian remnant. Consequently, the diagnosis was established as the de la Chapelle syndrome. This case report aims to highlight various imaging findings associated with this syndrome.

Macroadenoma is a tumor that typically develops in the epithelial cells of the pituitary gland. Patients suffering from the condition are often asymptomatic with complaints that are caused by hormonal imbalance. Therefore, chromosome analysis needs to be done to females aged >16 years presenting with amenorrhea. Karyotype 46,XY is a disorder of sex development (DSD) that is caused by the complex process of gene interactions, androgen synthesis, and hormone regulation. The patient initially came to the hospital for a scheduled transsphenoidal surgery due to pituitary macroadenoma, and later complained of primary amenorrhea and atypical external genital. Furthermore, physical examination of genitalia revealed mild clitoromegaly without obvious introitus vagina. Laboratory testing showed elevated prolactin and testosterone level, while ultrasonography imaging revealed the absence of the uterus and ovaries. The brain magnetic resonance imaging (MRI) demonstrated a pituitary adenoma, and cytogenetic analysis showed 46,XY karyotype. Subsequently, hyperprolactinemia, imaging, and histopathology examination were used to confirm pituitary macroadenoma in the patient. It was assumed that the undermasculinized genitalia was caused by hormonal disorders including the deficiency of androgen action or 5-alpha-reductase enzyme. 46,XY DSD has many different symptoms, hence, clinicians need to be aware of potential multifactorial aetiologies. Imaging of internal genitalia, hormonal and chromosomal analysis should be carried out to assess patients with unknown causes of the disorder. Molecular analysis needs to be carried to exclude the possible gene mutation.

The 17-beta-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) enzyme converts androstenedione to testosterone and is encoded by the HSD17B3 gene. Homozygous or compound heterozygous HSD17B3 mutations block the synthesis of testosterone in the fetal testis, resulting in a Disorder of Sex Development (DSD). We describe a child raised as a female in whom the discovery of testes in the inguinal canals led to a genetic study by whole exome sequencing (WES) and to the identification of a compound heterozygous mutation of the HSD17B3 gene (c.608C>T, p.Ala203Val, and c.645A>T, p.Glu215Asp). Furthermore, we review all HSD17B3 mutations published so far in cases of 17-β-HSD3 deficiency. A total of 70 different HSD17B3 mutations have so far been reported in 239 patients from 187 families. A total of 118 families had homozygous mutations, 63 had compound heterozygous mutations and six had undetermined genotypes. Mutations occurred in all 11 exons and were missense (55%), splice-site (29%), small deletions and insertions (7%), nonsense (5%), and multiple exon deletions and duplications (2%). Several mutations were recurrent and missense mutations at codon 80 and the splice-site mutation c.277+4A>T each represented 17% of all mutated alleles. These findings may be useful to those involved in the clinical management and genetic diagnosis of this disorder.

Background: Androgen insensitivity syndrome (AIS) is a disorder of sexual differentiation caused by complete or partial resistance to the biological action of androgens. The common malignant tumors associated with this syndrome are seminomas. However, the risk of malignancy in childhood remains low. Case Report: A 8-month-old child with a female phenotype and a 46, XY karyotype, presented with bilateral inguinal hernia. The patient underwent right radical inguinal orchiectomy with high ligation of the spermatic cord and laparoscopic percutaneous extra-peritoneal herniorrhaphy. Final pathology confirmed a pure yolk sac tumor (YST) from the right testis. Androgen receptor (AR) gene mutation was found in the children. The follow-up ultrasonography shown no recurrence, with serum AFP returned to normal within 3 months. Conclusion: The case we presented is relatively infrequent in the literature with yolk sac tumor in a AIS children presented with a palpable lump inguinal region.