Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis.

The objective of the study is to summarize the clinical characteristics of 33 patients' cohort (46,XX pure gonadal dysgenesis, 46,XX PGD), discuss the management, and propose treatment suggestions. Patients' information, medical history, and medical records were obtained. All patients were closely followed up. At the time of diagnosis, the patients presented 19.53 ± 3.60 years old, 165 ± 6.49 cm height, breast development of Tanner stage I, and infantile female genitalia. High level of follicle-stimulating hormone (87.41 ± 21.50 mIU/mL) and LH (27.10 ± 8.47 mIU/mL) and low level of E2 (8.85 ± 6.13 pg/mL) were observed. Individualized hormone replacement therapy (HRT) was initiated after diagnosis. After 2 years of treatment, all patients had obvious breast development; the uterus showed (2.38 ± 0.60) × (1.38 ± 0.70) × (1.38 ± 0.55) cm growth. The incidence of osteopenia changed from 69.70% to 22.22% and that of osteoporosis changed from 18.18% to 0. Dysgeminoma was found in one patient. We concluded that gonadal dysgenesis in 46,XX PGD causes secondary sexual characteristic absence, tendency of taller, osteoporosis, infertility, and sexual health problems. There is minor chance of tumor occurrence for the patients. Optimal care including HRT and close follow-up are required.

A rare case of rudimentary uterus with absence of both ovaries and 46,XX normal karyotype without mosaicism.

OBJECTIVE: We report an 18-year-old patient with bilateral ovarian agenesis, rudimentary uterus and normal fallopian tubes, and with normal 46,XX karyotype (without mosaicism). CASE REPORT: The patient was admitted to our clinic with primary amenorrhea. Secondary sexual characteristics (thelarche and pubarche) were both Tanner classification stage 1. With the help of vaginoscopy, vaginal depth was measured without distorting the hymenal ring and was found to be 8 cm. The laboratory findings were as follows: follicle-stimulating hormone 85 IU/L, luteinizing hormone 40 IU/L, and estradiol 14 pg/dL. Genetic investigation revealed a 46,XX karyotype without any mosaicism. Diagnostic laparoscopy was performed. During laparoscopic pelvic exploration, a rudimentary uterus without ovaries and normal bilateral fallopian tubes were observed. Bone mineral densitometry measurements were in the normal range. The patient was given oral contraceptives for hormone replacement. CONCLUSION: If gonadal agenesis is thought to be the cause of primary amenorrhea in patients with defective secondary sexual characteristics, we believe that laparoscopic evaluation is the gold standard in diagnosis.

Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome.

The Turner syndrome (TS) is a complex disorder associated with almost invariant short stature and gonadal dysgenesis, as well as a variety of other major organ malformations. Recently, a homeobox-containing gene entitled short-stature homeobox-containing gene (SHOX), was isolated from a minimal short stature gene interval from the pseudoautosomal region of Xp (and Yp). Together with the demonstrable escape of SHOX from X-inactivation, this suggested SHOX to be a strong candidate gene for the short stature component of TS, and as SHOX haploinsufficiency appears to be the molecular basis of a mesomelic short statured skeletal dysplasia (Leri-Weill syndrome), this suggested that SHOX protein expression levels may confer a dosage effect on human stature. However, in this communication we report a normal statured female with gonadal dysgenesis, due to the inheritance of a recombinant duplication-deletion X-chromosome. The karyotype of the proband was 46,X,rec(X)dup(Xp)inv(X)(p11.22q21.2)mat and fluorescent in situ hybridization of her metaphases with a SHOX cosmid confirmed the proband to be trisomic for SHOX. This communication suggests the relationship between levels of SHOX expression and human stature to be more complex than envisaged previously. The presence of normal stature in our patient rather than tall stature is likely to represent the natural variation seen in patients with transcription factor disorders.