A case of Van Wyk-Grumbach syndrome: clinical analysis / 中华全科医师杂志

The clinical data of a child with Van Wyk-Grumbach syndrome (VWGS) who visited Capital Institute of Pediatrics in 2019 were retrospectively analyzed. The patient was a seven year old girl, her main clinical manifestations included short stature (well below -2 standard deviations), obesity and breast development. The results of laboratory testing indicated that the level of thyrotropin (TSH)>100 mIU/L and the level of free thyroxine (FT 4) was 5.15 pmmol/L; serum estradiol and prolactin levels were significantly elevated; the gonadotropin-releasing hormone(GnRH) stimulation test showed that the gonad axis was not activated. She had giant ovarian cyst, pituitary hyperplasia, anemia and pericardial effusion. Bone age was delayed; and her blood lipids had increased. Therefore, she was diagnosed as Van Wyk-Grumbach syndrome. The patient received the treatment of levothyroxine, the drug does was gradually increased from 25 μg per day to 75 μg per day, vaginal bleeding was followed by medication for 3 days. Three months later, her thyroid function was back to normal, and giant ovarian cyst regressed, but the ovaries were bulky,pericardial effusion was absorbed. The levothyroxine dose was adjusted to 50 μg per day according to the test result of thyroid function. And 1 year late the thyroid function was normal, pituitary magnetic resonance imaging(MRI) showed the hyperplastic adenohypophysis was back to normal, no more vaginal bleeding occurred, and the giant ovarian cyst was shrunk.

Van Wyk Grumbach Syndrome: A rare cause of precocity in a common condition

hypothyroidism, precocious puberty, multicyctic ovaries, Van Wyk Grumbach Syndrome@#

Síndrome de Van Wyk-Grumbach / Van Wyk-Grumbach syndrome

RESUMEN El síndrome de Van Wyk-Grumbach se caracteriza por hipotiroidismo primario de larga duración asociado a pubertad precoz. Se presenta una paciente de 7 años, mestiza, que acude por sangrado vaginal, acompañado de hiperpigmentación de las areolas sin galactorrea, abdomen globuloso, mixedema, hirsutismo, baja talla, astenia y retraso escolar. La química sanguínea mostró anemia, hipercolesterolemia y hipertransaminasemia; los estudios de imágenes constataron derrame pericárdico, retraso marcado de la edad ósea, incremento de las dimensiones de la silla turca y gran quiste del ovario con aparente criterio quirúrgico. Los estudios hormonales confirmaron la sospecha de hipotiroidismo primario asociado a hiperprolactinemia. El tratamiento sustitutivo con levotiroxina sódica revirtió los signos y síntomas de pubertad precoz, lo que evitó la cirugía del quiste de ovario; la recuperación en el ambiente escolar y social fue indiscutible. Reconocer esta entidad evita tratamientos absolutamente contraindicados, como la extirpación de los quistes o el tratamiento quirúrgico de la hiperplasia hipofisaria(AU)

ABSTRACT Van Wyk-Grumbach syndrome is characterized by long-lasting primary hypothyroidism associated with precocious puberty. A case of a 7-year-old female mestizo patient is reported. She came to consultation for vaginal bleeding, accompanied by hyperpigmentation of the areolas without galactorrhea, globular abdomen, myxedema, hirsutism, short stature, asthenia and school delay. Blood chemistry showed anemia, hypercholesterolemia and hypertransaminasemia. Imaging studies showed pericardial effusion, marked delay in bone age, increased dimensions of Turkish chair and large ovarian cyst with apparent surgical criteria. Hormonal studies confirmed the suspicion of primary hypothyroidism associated with hyperprolactinemia. Substitute treatment with levothyroxine sodium reversed the signs and symptoms of precocious puberty, which prevented ovarian cyst surgery; the recovery in the school and social environment was certain. Recognizing this entity avoids absolutely contraindicated treatments, such as the removal of cysts or the surgical treatment of pituitary hyperplasia(AU)

Van Wyk-Grumbach syndrome in children:a case report and literature review / 临床儿科杂志

Objective To explore the early diagnosis and treatment of Van Wyk-Grumbach syndrome (VWGS). Methods The clinical data of a child with VWGS were retrospectively analyzed. The related literatures were reviewed. Results Nine-year-old female presented with growth retardation and obesity for 3 years, combined with breast development for 6 months and vaginal bleeding for 3 month. The level of free thyroxine (FT4) was 0.46 ng/dL and thyrotropin (TSH)>150 mIU/L. The GnRH stimulation test showed that the gonad axis was not activated. The serum prolactin and estradiol were significantly increased. Bone age was delayed. Color Doppler ultrasound showed enlarged uterus and enlarged ovary, and ovarian cyst was seen. Pituitary MRI showed hyperplasia of the pituitary gland. The patient received the treatment of Euthyrox, and 2 months later, thyroid function was back to normal, ovaries were significantly reduced by reexamine of color doppler ultrasound, body weight was reduced by 6 kg, and there was no vaginal bleeding. Three months later, both ovaries returned to normal size, and pituitary MRI showed hyperplasia of adenohypophysis was improved. After 6 months, both of uterus and ovary were turn to normal size, ovarian cyst disappeared, and pituitary MRI showed normal. Conclusions VWGS is a rare complication of severe primary hypothyroidism untreated for long time and it mainly occurs in adolescent girls. Thyroid replacement therapy is effective.

Unusual manifestations associated with primary hypothyroidism: Experience from a tertiary care health center / Journal of the ASEAN Federation of Endocrine Societies

@#Hypothyroidism is a commonly diagnosed endocrine disorder. Typical signs and symptoms of hypothyroidism include lethargy, cold intolerance, hoarseness, dry skin, constipation, delayed relaxation phase of deep tendon reflexes, and bradycardia. However, some patients may present with unusual signs and symptoms of hypothyroidism which can result in diagnostic confusion. Besides the usual clinical manifestations of primary hypothyroidism, some signs are very unusual and not commonly recorded. The treating physician may not be familiar with them. Hence, timely identification of these unusual presentations is very important for early intervention and treatment.

A Case of Van Wyk-Grumbach Syndrome / 대한소아내분비학회지

Van Wyk-Grumbach Syndrome is an advanced sexual development in association with primary hypothyroidism. The clinical feature in this syndrome is more consistent with stimulation of the FSH receptor by the markedly elevated TSH levels. Treatment of the hypothyroidism results in a rapid return to normal of the biochemical and clinical manifestations. We experienced a case of Van Wyk-Grumbach Syndrome and report with the brief review of related literature.