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Endocrine Abstracts (2021) 73 AEP598 | DOI: 10.1530/endoabs.73.AEP598

1Lithuanian University of Health Sciences, Medical Academy, Kaunas, Lithuania; 2Lithuanian University of Health Sciences, Institute of Endocrinology, Lithuania


Partial gonadal dysgenesis (PGD) is one of the rare 46, XY disorders of sex development (DSD), associated with variable degrees of impaired testicular development and function. Phenotypic appearance is related to the level of functional testicular hormones. Usually PGD is diagnosed in infancy because of significant genital anomaly at birth, however, spontaneous puberty is seen in up to 57% of all 46, XY PGD cases. Bilateral gonadectomy is performed in order to avoid malignancy and insufficient function of gonads, which leads to infertility. We are presenting a patient with diagnosed PGD in puberty and successful twin delivery after in vitro fertilization (IVF).

A case.

A 16-year-old female was referred to the pediatric endocrinologist due to primary amenorrhea. The patient’s height was 180 cm (SDS: +2.12), weight 62 kg, BMI 19.1 kg/m2 (SDS: –0.63), puberty development B4P4 Tanner stage. The ultrasound examination of minor pelvis revealed the uterus matched to a 12–13-year-old and ovaries of normal volume without follicles. The patient’s FSH was 130 U/l, LH 35.6 U/l (NR 4.5–11 and 1.7–13.3 respectively), estradiol 72 pmol/l (NR 55–368), testosterone 2.1 nmol/l (NR 0.38–2.74) and prolactin 120 mU/l (NR 57–418). Human Chorionic Gonadotropin (hCG) stimulation test was negative. According to karyotype of peripheral lymphocytes, 46, XY DSD was diagnosed with suspected complete gonadal dysgenesis followed by laparoscopic bilateral gonadectomy. A histological analysis revealed Sertoli-like cells, a small amount of Leydig cells in the stroma with fine, round nuclei and eosinophilic cytoplasm, and no primary follicles were found. A diagnosis of PGD was confirmed. The hormone replacement therapy (HRT) was prescribed. At the age of 24 the patient underwent IVF using her cousin’s donor oocytes and became pregnant with twins. The pregnancy was supported with exogenously administered hormones for the first trimester. The course of pregnancy was complicated: severe hypertension and pre-eclampsia developed (severe hypoalbuminemia with the need of albumin transfusions, pericardial effusion), one of the twins appeared in breech position. The fetuses underwent lung maturation with dexamethasone. During C-section at 29 gestational weeks, male twins weighing 1351 g and 1448 g and the APGAR score of 8 were delivered. The postnatal period was fluent.


The clinical case represents a rare, very phenotypically expressed and late diagnosed partial gonadal dysgenesis. As in most DSD cases, the patient’s pregnancy after IVF was associated with complications, however, a successful delivery of twins was achieved.

Volume 73

European Congress of Endocrinology 2021

22 May 2021 - 26 May 2021

European Society of Endocrinology 

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