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SummarySpondylocarpotarsal synostosis is a very rare skeletal disorder characterized by vertebral malsegmentation defects. Apart from severe vertebral defects, the disease is associated with carpal and tarsal synostosis which is quite characteristic for the disease. We report a case of young child who presented with short stature and congenital scoliosis. The radiological and clinical findings were compatible with the above diagnosis. Apart from the classical findings, the patient had evidence of odontoid aplasia which has not earlier been described in association with this disorder. We report this case for rarity of this disorder and the associated novel finding.

Objective: Acromegaly is a classic endocrine disorder caused by a growth hormone (GH)-secreting pituitary adenoma in an overwhelming majority of patients. The diagnosis may be delayed by several years due to the slow growing and insidious nature of the disease. Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by multiple renal cysts and various other systemic manifestations. The purpose of this article is to report a rare case of acromegaly with coexistent ADPKD.Methods: We report a case of 42-year-old female with acromegaly and ADPKD along with a brief review of literature.Results: The patient was referred to us for evaluation of progressive acral enlargement and coarsening of facial features. Endocrine evaluation confirmed the diagnosis of acromegaly due to an underlying GH-secreting pituitary macroadenoma. She was also found to have ADPKD. We discuss the clinical features and management of the patient.Conclusion: The association of pituitary adenomas and ADPKD is very rare and interesting. All affected individuals with pituitary adenomas and ADPKD in the literature are women. Furthermore, all reported pituitary adenomas in these individuals (including ours) are functional GH-secreting ones. These findings argue against a mere chance association between the two diseases. (AACE Clinical Case Rep. 2019;5:e302-e306) Abbreviations: ADPKD = autosomal dominant polycystic kidney disease; GH = growth hormone; IGF-1 = insulin-like growth factor 1 DISCLOSUREThe authors have no multiplicity of interest to disclose.

BACKGROUND Amenorrhea refers to the absence of menstrual periods and may result from a number of different conditions. The normal menstrual cycle involves complex interactions between the hypothalamic pituitary axis, the ovaries and the outflow tract, thus disruption at any level can result in abnormal menstruation and amenorrhea. Amenorrhea is broadly classified into primary or secondary. Amenorrhea is classified as primary if menstrual bleeding has never occurred in the absence of hormonal treatment. The clinical significance of lack of regular menstrual cycles extends beyond reproductive concerns and include implications on bone and cardiovascular health. The aim of this study was to evaluate the clinical profile and etiology, mean age of presentation of common etiologies, common age group of presentation, variation of gonadotropin levels, of patients of primary amenorrhea presenting to Endocrine OPD of a tertiary care hospital.

Turner syndrome occurs in one out of every 2500-3000 live female births and the diagnosis is usually based on the clinical presentation. It is a genetic condition in which a female does not have the usual pair of two X chromosomes. Deletions of proportions of the X chromosome result in various Turner variants who have varied spectrum of clinical presentation. We report on a rare variant of deletion on long arm of X chromosome in a 35-year-old female with short stature, lack of secondary sexual characters, primary amenorrhea, average intelligence and diabetes mellitus. Chromosomal analysis using GTG-banding showed 46, X, del (X), (q13) in all cell lines. Hence, suspicion of rare variants of Turner syndrome in females must be done who present at a later age with atypical features. A 35-year-old female presented to us for evaluation of primary amenorrhea. She was diagnosed with T2DM two years ago with poor compliance to OAD. She also was detected with primary hypothyroidism 3 months before presenting to us and had been on levothyroxine supplementation since then. She is a first order child born of a nonconsanguineous marriage at 40 wks. of gestation, delivered at term in hospital by normal vaginal delivery. Her fathers and mothers age during her delivery was 28yearsand 22years, respectively. Clinical examination revealed height 130.8cm (<3 rd centile ht. SDS-4.6), weight 31kg (<3 rd centile, wt. SDS-1.94).Pubertal status was A1B1P2, arm span 136cmwith US:LS ratio of 0.85.General examination revealed normal placement of posterior hairline, neck length to height ratio of 1:11, right and left carrying angle of 11 degrees and 14 degrees, respectively (Figure 1a, 1b). She was hypertensive with all peripheral pulses being well palpable. Systemic examination were within normal limits. Routine haemogram revealed microcytic anaemia. Biochemical parameters revealed elevated FPG and PPPG and elevated S.urea and creatinine level. Urine ACR was 5000mg/gm. Fundoscopy revealed modNPDR.2D echo (transthoracic) was normal.