Hyperphosphatemic familial tumoral calcinosis (HFTC) presents with varied neurological manifestations that have been reported in the literature like facial palsy, vision and hearing impairment, stroke, and headache. In this article, we reported a 12-year-old girl child patient with recurrent facial weakness with bilateral hearing impairment and multiple ulcerative lesions on lower limbs and elbows. On examination, she had lower motor neuron (LMN) facial palsy with conductive hearing loss. The investigations showed hyperphosphatemia (9.3 mg/dL) with normal serum calcium (10.4 mg/dL), alkaline phosphatase (147.9 U/L), parathyroid hormone (23.12 pg/mL), and renal function tests. Elevated serum calcium and phosphorus product (96.72 mg2/mL2) and elevated renal tubular reabsorption of phosphate (TMPxGFR) value (9.16) were noted. Skeletal survey showed hyperostosis in the long bone diaphysis, vertebrae, ribs, pelvic bone, skull, and facial bones with narrowing of cranial ostium, characteristically without any peri-articular soft tissue calcifications. An angiogram showed multiple intravascular calcifications. She was managed with a low-phosphate diet, sevelamer, niacinamide, acetazolamide, sucroferric oxyhydroxide to lower serum phosphate level, and topical sodium thiosulfate ectopic cutaneous calcification. Exome sequencing showed novel homozygous inframe deletion of ACG in FGF23 gene exon 3 at c.374_376 delins position (p. Asp125del) in the proband and a mutation in the heterozygous state in the mother and elder sibling, thus confirming a molecular diagnosis of HFTC. Our case had a unique neurological presentation of recurrent bilateral lower motor nerve facial palsy, hearing loss, multiple ectopic cutaneous calcifications without peri-articular deposits, multiple intravascular, intracranial, and vertebral endplate calcification, which has not been reported earlier. The proband showed a novel pathogenic variant suggesting an expanding phenotype of HFTC.

<b><i>Background:</i></b> Turner syndrome (TS) is the commonest chromosomal abnormality in females with an incidence of 25–50 per 100,000 females. Girls with TS universally have short stature (95%), along with gonadal failure (&#x3e;90%) and infertility (99%); however, the ethnic differences are not well elaborated. <b><i>Objectives:</i></b> This study has been planned to evaluate the presentation and course of Indian girls with TS. <b><i>Methods:</i></b> Patients with TS presenting to our referral endocrinology clinic were included in this study. Diagnosis of TS was done by karyotyping. A retrospective chart review of these patients formed the basis of this study. <b><i>Results:</i></b> A total of 55 patients with TS karyotype were seen, and the mean age at diagnosis was 12.3 years. The commonest presenting features were short stature alone seen in 37 (65.45%) and short stature with delayed puberty in 18 (32.72%). The earliest age at presentation was 4.5 years who presented with short stature. The mean height was 124.17 cm and mean BMI 17.54 kg/m². The most common karyotype was 45, XO found in 34 (61.6%) of the cases. 15 (27.27%) the cases were started on growth hormone therapy. 26 cases (47.27%) required pubertal induction. <b><i>Conclusion:</i></b> A vast number of cases with TS in India remain undiagnosed until puberty or present very late. A high degree of clinical suspicion can help us diagnose these children earlier. If TS is diagnosed earlier, growth can be achieved up to their maximum potential. Early identification and management will help us provide multidisciplinary care and hence prevent complications.

Biotinidase deficiency (BD) is a rare treatable cause of neurometabolic disorders. It is an autosomal recessive disorder that manifests with cutaneous and neurological manifestations. Spinal cord involvement is uncommon with only a few cases reported in the literature. A 6-year-old female child presented with progressive difficulty in walking since 2 months. At 6 months of age, the child was elsewhere evaluated for global developmental delay and suspected as metabolic disorders and started on megavitamins, following which the child was improved. For the past 2 years, she has stopped medicines. On examination, irritable, alopecia, eczema, hypotonia, and power of two-fifths in all four limbs, and exaggerated deep tendon reflexes. The magnetic resonance imaging (MRI) brain and spine showed T2/fluid-attenuated inversion recovery (FLAIR) hyperintensities in periaqueductal gray matter, dorsal midbrain, pons, medulla, and cervical cord. She was suspected to have BD and confirmed by low enzyme levels and pathogenic variant in BTD. She was started on biotin supplements that resulted clinically dramatic improvement and MRI became normal within 4 weeks. Any child presenting with acute flaccid paralysis with brainstem and spinal cord noncompressive lesions on MRI, rare treatable conditions like BD should be considered in developing countries, like India, where still no universal newborn screening facilities are available.

“Hyperandrogenism” is one of the commonest reasons for consultation in the adolescent age group. The most common reason being polycystic ovarian syndrome (PCOS) caused due to the changing lifestyle and adopting to a more sedentary type of living. PCOS is an endocrine disorder becoming increasingly common in adolescent, with an incidence of 6–18% in the female population. HAIR-AN syndrome being a specific subtype of PCOS consists of hyperandrogenism (HA), insulin resistance (IR) and acanthosis nigricans (AN) with adipose tissue dysfunction as the initial pathophysiological stimulant. We report a 16-year-old developmentally normal adolescent girl with excessive facial hair growth, an irregular menstrual cycle, and hyperpigmentation who attained menarche at the age of 12. On clinical examination, she had features suggestive of HA and IR. Biochemical investigations showed highly elevated serum insulin with elevated testosterone and normal blood glucose.A multidisciplinary approach with lifestyle modifications combined with hormonal medications like oral contraceptive pills with metformin and spironolactone were required to control the disease and prevent the systemic manifestation and decrease the degree of virilization. As HAIR-AN syndrome is a disorder characterized by high IR, pediatricians, adolescent specialists, and obstetricians should be familiar with this condition in order to assess and manage it efficiently.

KBG syndrome is a rare, genetic disorder characterizedby cognitive impairment, short stature, skeletal (mainly costovertebral) anomalies and a distinct craniofacial appearance. It is usually autosomal dominant in nature with a wide range of expressivity in its clinical features. We describe what appears to be the third case reported from India.The aim of this article is to review familiar clinical features and to highlight the endocrine management of KBG syndrome. We are hereby reporting a case of 17 year 10 months old adolescent who had neurocognitive impairment and a characteristic appearance, which led to the diagnosis of this genetic condition.