Laron syndrome: A tale of two siblings / Journal of the ASEAN Federation of Endocrine Societies

@#Primary growth hormone (GH) resistance or growth hormone insensitivity syndrome, also called Laron syndrome, is a hereditary disease caused by mutations in the GH receptor or in the post-receptor signaling pathway. This disorder is characterized by postnatal growth failure resembling GH deficiency. Differentiating the two conditions is necessary. We present the cases of two siblings, a 16-year-old female and a 9-year-old male, born from a consanguineous union. Both had normal birth weights with subsequent severe short stature and delayed teeth eruption, with no features suggestive of any systemic illness. Serum insulin-like growth factor 1 (IGF1) and insulin-like growth factor binding protein 3 (IGFBP3) were both low. Suspecting GH deficiency, provocative testing with clonidine was done revealing peak growth hormone >40 ng/mL in both patients. In view of low IGF1 and IGFBP3 and high GH on stimulation, IGF1 generation test was done for both siblings, with values supporting the diagnosis of GH insensitivity or Laron syndrome.

Swyer syndrome presenting as dysgerminoma: A case report / Journal of the ASEAN Federation of Endocrine Societies

@#Complete gonadal dysgenesis with 46,XY karyotype is a clinical condition characterized by the absence of testicular tissue but typical Mullerian structures in a phenotypically female individual. The condition presents as primary amenorrhoea or delayed puberty. Eventually, malignant neoplasms may arise. We report a case of a 16-year-old patient with Swyer syndrome presenting with primary amenorrhoea and with previous diagnosis four years earlier of a malignant dysgerminoma in the right ovary.

Rare Site Of Presentation Of A Rare Manifestation Of Graves’ Disease

Infiltrative dermopathy is an uncommon manifestation of Graves’ disease frequently involving the lower extremities. The pretibial area is most commonly involved. Rarely the fingers, hands, elbows, arms, or face are affected. Skin thickening is the characteristic abnormality. Localized myxedema is an autoimmune manifestation of Graves’ disease. Here, we report the case of a 45-year-old who presented with thyroid-associated orbitopathy and localized myxoedema over both the shoulders. In a patient who has long-standing hyperthyroidism, the diagnosis of infiltrative dermopathy is usually confirmed by the location, non-pitting nature, and distinct borders of the lesions. As most of these lesions are asymptomatic, no specific therapy is required

Retinal findings in Bardet-Biedl Syndrome / Journal of the ASEAN Federation of Endocrine Societies

@#We report three cases of Bardet-Biedl syndrome (BBS) among which a young female and two siblings from a separate family, presented with common features of obesity, postaxial (ulnar) polydactyly, speech delay, developmental delay with learning difficulties and progressive deterioration of vision. Fundus examination revealed maculopathy and other remarkable findings in these patients. In this image of endocrinology, we describe the BBS phenotypes of these cases highlighting the fundus photography features with a plan for close follow up on obesity and endocrine complications.

Remarkable calcifications in medullary thyroid carcinoma / Journal of the ASEAN Federation of Endocrine Societies

@#Various patterns of calcifications may be seen in thyroid cancers on ultrasonography (USG) of thyroid.1 Coarse calcifications seen in medullary thyroid carcinoma (MTC) are generally associated with posterior shadowing on thyroid ultrasound.2 We briefly report this case of MTC with an emphasis on its radiological features.