Van Wyk Grumbach Syndrome: A Rare Consequence of Hypothyroidism

Reddy, Pavan; Tiwari, Kritika; Kulkarni, Abhishek; Parikh, Ketan; Khubchandani, Raju

doi:10.1007/s12098-018-2704-2

Cited by 15 publications

(13 citation statements)

References 8 publications

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“…However, rarely, in long-standing and severe hypothyroidism, we may get incomplete precocity. [ 18 19 ] In the present study, puberty was delayed in 4% children with OH. One girl (1.4%) with OH presented with precocious puberty.…”

Section: Discussionsupporting

confidence: 49%

Juvenile hypothyroidism: A clinical perspective from Eastern India

Raychaudhuri

Sanyal

2020

Indian J Endocr Metab

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Introduction: Juvenile hypothyroidism (JH) can have deleterious effects on growth, pubertal development, and scholastic performance of children. In India, there is a paucity of data on acquired hypothyroidism in children, in contrast to congenital hypothyroidism. Our objective was to assess the profile of JH in a referral clinic from eastern India. Materials and Methods: For this study, 100 patients with documented acquired hypothyroidism (subclinical and overt) (aged <18 years), from eastern India, were evaluated retrospectively. Evaluation included history as well as clinical, biochemical, and ultrasonography parameters. Results: Out of the 100 participants, 74% had overt hypothyroidism (OH), while 26% had subclinical hypothyroidism (SCH). The majority of the participants were females (66%). The mean age at detection was 8.95 ± 3.96 years in the SCH group and 8.38 ± 3.29 years in the OH group. A family history of thyroid disorder and/or goiter was present in 35% of the patients. Goiter was the most common presentation in both SCH and OH, with overall prevalence of 58%. Height below 3 rd percentile was significantly higher (28%) in OH group compared to 4% in SCH group. Five percent of OH subjects were obese. Worsening school performance was reported in only 9% of subjects. Only 4% (all males) presented with delayed puberty, while one female (1%) presented with precocious puberty. Sixty-four percent of OH group were TPOAb positive compared to only 15% in SCH group. Five percent of our study population had type-1 diabetes mellitus (T1DM) and 7% had Down syndrome (DS). Conclusion: In our study, JH showed significantly higher female preponderance and TPOAb positivity in OH group, in comparison to SCH group. Family history of thyroid disorder and/or goiter was present in a significant proportion of patients. Goiter was the most common presentation of JH. Height deceleration, weight gain, and fatigue were the other common presentations. Prevalence of short stature was significantly higher in OH group. Interestingly, in contrast to prevalent notion, only 5% of OH were obese and worsening school performance was observed to be rare. Puberty disorders (both delayed and precocious) may occur in JH as seen here. Because of strong association, those with T1DM or DS should be screened for JH and vice versa in TIDM.

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Section: Discussionsupporting

confidence: 49%

Juvenile hypothyroidism: A clinical perspective from Eastern India

Raychaudhuri

Sanyal

2020

Indian J Endocr Metab

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“…In rare cases, it may be accompanied by precocious puberty, such as VWGS. 8,11,12,19) Most cases of VWGS have been reported in prepubertal girls, while male cases are rarer and present with testicular enlargement. 9,10) There are several hypotheses to explain these paradoxical symptoms.…”

Section: Discussionmentioning

confidence: 99%

“…9,10) In male VWGS patients, testicle volume increases without any virilization due to FSH-R continuous activation and Sertoli cell proliferation. 19) Hyperlipidemia is also thought to be caused by hypothyroidism. Hypothyroidism can have an important effect on lipid profiles.…”

Section: Discussionmentioning

confidence: 99%

“…Hypothyroidism, if left untreated for a long period, may lead to delayed puberty. In rare cases, it may be accompanied by precocious puberty, such as VWGS [ 8 , 11 , 12 , 19 ]. Most cases of VWGS have been reported in prepubertal girls, while male cases are rarer and present with testicular enlargement [ 9 , 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…TSH continuously stimulates FSH-R to induce pubertal changes [ 9 , 10 ]. In male VWGS patients, testicle volume increases without any virilization due to FSH-R continuous activation and Sertoli cell proliferation [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

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An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism

Lee

Moon

Lee

et al. 2020

Ann Pediatr Endocrinol Metab

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Alport syndrome (AS) is a rare genetic disorder that causes progressive nephritis and is more common among males. Studies have reported an association between thyroid antibodies and hypothyroidism in patients with AS, but the relevance of this relationship is under debate. Prolonged untreated hypothyroidism induces short stature, abnormal pubertal development, and various other symptoms. However, children with long-standing hypothyroidism rarely present with signs of precocious puberty, or Van Wyk-Grumbach syndrome (VWGS). We report the case of a boy, 8 years and 4 months old, who had VWGS caused by prolonged untreated congenital hypothyroidism and AS. The boy had repeated gross hematuria and proteinuria and was diagnosed with AS by renal biopsy and genetic testing. He had normal renal function but severe growth retardation and hypothyroidism. Obesity, bone age delay, hyperlipidemia, and abnormal increased testicle size were also present due to prolonged untreated hypothyroidism. His thyroid antibody titer elevation was unclear, although ultrasonography and thyroid scanning showed a decrease in thyroid volume. We diagnosed the patient with congenital hypothyroidism caused by thyroid dysgenesis. VWGS was diagnosed due to hypothyroidism, delayed bone age, and pseudoprecocious puberty. To the best of our knowledge, this is the first report of a prepubertal Korean boy with prolonged untreated congenital hypothyroidism complicated by VWGS in AS.

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